Sökresultat - "Dafsari, HS"

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

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Clinical Non-Motor Phenotyping of Black and Asian Minority Ethnic Compared to White Individuals with Parkinson's Disease Living in the United Kingdom

Sauerbier, A, Schrag, A, Brown, R, Martinez-Martin, P, Aarsland, D, Mulholland, N, Vivian, G, Dafsari, HS, Rizos, A, Corcoran, B

EuroInf: a multicenter comparative observational study of apomorphine and levodopa infusion in Parkinson's disease

Martinez-Martin, P, Reddy, P, Katzenschlager, R, Antonini, A, Todorova, A, Odin, P, Henriksen, T, Martin, A, Calandrella, D, Rizos, A, Bryndum, N, Glad, A, Dafsari, HS, Timmermann, L, Ebersbach, G, Kramberger, MG, Samuel, M, Wenzel, K, Tomantschger, V, Storch, A, Reichmann, H, Pirtosek, Z, Trost, M, Svenningsson, P, Palhagen, S, Volkmann, J, Chaudhuri, KR

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.

Cheerie D; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address: david.cheerie@sickkids.ca., Meserve MM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Beijer D; Division of Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany., Kaiwar C; Clinical Molecular Geneticist, Department of Pathology and Laboratory Medicine, Precision Diagnostics Laboratory, Children's Hospital Colorado, Aurora, CO 80045, USA., Newton L; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada., Taylor Tavares AL; Genomics England, London E14 5AB, UK; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire CB2 0QQ, UK., Verran AS; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Sherrill E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Leonard S; N=1 Collaborative, 7 Carole Place, Somerville, MA 02143, USA., Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Pediatrics, University of Oxford, Oxford OX3 7TY, UK; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; New York Genome Center, New York, NY 10013, USA., Blake E; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Elkhateeb N; Genomics England, London E14 5AB, UK; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire CB2 0QQ, UK., Gandhi A; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada., Liang NSY; Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Genetic Counselling, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Morgan JT; Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, Leiden 2333 ZA, the Netherlands., Verwillow A; Center for Genomic Medicine, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA., Verheijen J; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA; ARUP Laboratories, Salt Lake City, UT 84108, USA., Giles A; Ambry Genetics, 1 Enterprise, Aliso Viejo, CA 92656, USA., Williams S; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada., Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA., Croft L; Centre for Genomics and Personalised Health, School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD 4001, Australia., Dafsari HS; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany; Max-Planck-Institute for Biology of Ageing and Cologne Excellence Cluster for Ageing-associated Diseases, 50931 Cologne, Germany; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London WC2R 2LS, UK., Davidson AE; University College London Institute of Ophthalmology, London EC1V 9EL, UK; UK Platform for Nucleic Acid Therapies (UpNAT), London, UK., Friedman J; Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Division of Neurology, Rady Children's Hospital, Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Gregor A; Department of Human Genetics, Inselspital University Hospital Bern, University of Bern, 3010 Bern, Switzerland; Department for Biomedical Research, University of Bern, 3010 Bern, Switzerland., Haque B; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada., Lechner R; Department of Clinical Genetics, Erasmus MC, Rotterdam 3015 CN, the Netherlands; Center of Expertise for Neurodevelopmental Disorders (ENCORE), Erasmus MC, Rotterdam 3015 CN, the Netherlands., Montgomery KA; UK Platform for Nucleic Acid Therapies (UpNAT), London, UK; Great Ormond Institute of Child Health and Queen Square Institute of Neurology, University College London, London WC1N 1EH, UK., Ryten M; UK Platform for Nucleic Acid Therapies (UpNAT), London, UK; Dementia Research Institute, University of Cambridge, Cambridge CB2 0AH, UK., Schober E; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany; Max-Planck-Institute for Biology of Ageing and Cologne Excellence Cluster for Ageing-associated Diseases, 50931 Cologne, Germany., Siegel G; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland., Sullivan PJ; Children's Cancer Institute, Lowy Cancer Research Centre, UNSW Sydney, Sydney, NSW 2033, Australia., Whittle EF; UK Platform for Nucleic Acid Therapies (UpNAT), London, UK; Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Zardetto B; Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, Leiden 2333 ZA, the Netherlands., Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Synofzik M; Division of Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany., Aartsma-Rus A; Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, Leiden 2333 ZA, the Netherlands., Costain G; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada., Lauffer MC; Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, Leiden 2333 ZA, the Netherlands. Electronic address: m.c.lauffer@lumc.nl.

N=1 Collaborative

Journal Article; Review , 2025

Microstructure is associated with motor outcomes following Deep Brain Stimulation in Parkinson's disease.

Loehrer PA; Department of Neurology, Philipps-University Marburg, Marburg, Germany. Loehrer@staff.uni-marburg.de.; MRC Brain Network Dynamics Unit, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK. Loehrer@staff.uni-marburg.de., Freigang J; Department of Neurology, Philipps-University Marburg, Marburg, Germany., Bopp MHA; Department of Neurosurgery, Philipps-University Marburg, Marburg, Germany.; Center for Mind, Brain and Behavior (CMBB), Marburg, Germany., Calvano A; Department of Neurology, Philipps-University Marburg, Marburg, Germany., Dafsari HS; Department of Neurology, University Hospital Cologne, Cologne, Germany., Wichmann J; Department of Neurology, Philipps-University Marburg, Marburg, Germany., Seidel A; Department of Neurology, Philipps-University Marburg, Marburg, Germany., Aberle C; Department of Neurology, Philipps-University Marburg, Marburg, Germany., Knake S; Department of Neurology, Philipps-University Marburg, Marburg, Germany.; Center for Mind, Brain and Behavior (CMBB), Marburg, Germany.; Center for Personalized Translational Epilepsy Research (CePTER) Consortium, Marburg, Germany., Nimsky C; Department of Neurosurgery, Philipps-University Marburg, Marburg, Germany.; Center for Mind, Brain and Behavior (CMBB), Marburg, Germany., Timmermann L; Department of Neurology, Philipps-University Marburg, Marburg, Germany.; Center for Mind, Brain and Behavior (CMBB), Marburg, Germany.; Center for Personalized Translational Epilepsy Research (CePTER) Consortium, Marburg, Germany., Belke M; Department of Neurology, Philipps-University Marburg, Marburg, Germany.; Center for Personalized Translational Epilepsy Research (CePTER) Consortium, Marburg, Germany., Pedrosa DJ; Department of Neurology, Philipps-University Marburg, Marburg, Germany.; Center for Mind, Brain and Behavior (CMBB), Marburg, Germany.

Journal Article , 2025

Subthalamic Deep Brain Stimulation: Mapping Non-Motor Outcomes to Structural Connections.

Meyer GM; Center for Brain Circuit Therapeutics, Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Sahin IA; Movement Disorders and Neuromodulation Unit, Department of Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Einstein Center for Neurosciences Berlin, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Berlin School of Mind and Brain, Humboldt-Universität Zu Berlin, Berlin, Germany., Hollunder B; Movement Disorders and Neuromodulation Unit, Department of Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Einstein Center for Neurosciences Berlin, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Berlin School of Mind and Brain, Humboldt-Universität Zu Berlin, Berlin, Germany., Butenko K; Center for Brain Circuit Therapeutics, Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Rajamani N; Center for Brain Circuit Therapeutics, Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Movement Disorders and Neuromodulation Unit, Department of Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Einstein Center for Neurosciences Berlin, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Berlin School of Mind and Brain, Humboldt-Universität Zu Berlin, Berlin, Germany., Neudorfer C; Center for Brain Circuit Therapeutics, Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hart LA; Center for Brain Circuit Therapeutics, Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Petry-Schmelzer JN; Department of Neurology, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany., Dafsari HS; Department of Neurology, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany., Barbe MT; Department of Neurology, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany., Visser-Vandewalle V; Department of Stereotactic and Functional Neurosurgery, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany., Mosley PE; Clinical Brain Networks Group, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.; Neurosciences Queensland, St Andrew's War Memorial Hospital, Brisbane, Queensland, Australia.; Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia.; Australian eHealth Research Centre, CSIRO Health and Biosecurity, Brisbane, Queensland, Australia., Horn A; Center for Brain Circuit Therapeutics, Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Movement Disorders and Neuromodulation Unit, Department of Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Einstein Center for Neurosciences Berlin, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Journal Article , 2025

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Möller B; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Becker LL; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Institute for Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany., Saffari A; Heidelberg University, Medical Faculty Heidelberg, University Hospital Heidelberg, Center for Pediatrics and Adolescent Medicine, Department of Pediatrics I, Division of Child Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Afenjar A; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Intellectual Disabilities of Rare Causes, Department of Genetics and Medical Embryology, Sorbonne University, Trousseau Hospital Paris, 75012 Paris, France., Coci EG; Department of Paediatrics, Otto-von-Guericke-University Magdeburg, 39120 Magdeburg, Germany.; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark., Williamson R; Akron Children's Hospital Genetic Center, Akron, OH 44308, USA., Ward-Melver C; Akron Children's Hospital Genetic Center, Akron, OH 44308, USA., Gibaud M; Service de pédiatrie, CHU de Nantes, 44000 Nantes, France., Sedláčková L; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic., Laššuthová P; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic., Libá Z; Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic., Vlčková M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic., William N; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55901, USA., Klee EW; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, USA., Gavrilova RH; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, USA., Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France., Capri Y; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France., Scavina M; Division of Neurology, Nemours Children's Health, Wilmington, Delaware 19803, USA., Körner RW; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA., Weiß C; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany., Möller GM; Berlin University of Applied Sciences and Technology, 10587 Berlin, Germany., Frazier Z; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Roberts A; Center for Cardiovascular Genetics, Boston Children's Hospital, Boston, MA 02115, USA., Gener B; Department of Genetics, Cruces University Hospital, Biobizkaia Health Research Institute, Barakaldo 48903, Spain., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Thiel M; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Kamsteeg EJ; Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA., Duboc V; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France., Zaafrane-Khachnaoui K; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France., Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Trust, Cambridge CB2 3EH, UK.; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt., Selim L; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt., Margot H; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France., Marin V; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France., Beneteau C; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France., Isidor B; Genetics Department, Nantes University, CHU de Nantes, 44000 Nantes, France., Cogne B; Genetics Department, Nantes University, CHU de Nantes, 44000 Nantes, France., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, 75013 Paris, France., Küsters B; Department of Pathology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Beggs AH; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA., Sveden A; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Genetti CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA., Nicolai J; Department of Neurology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands., Dötsch J; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Koy A; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA., von der Hagen M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307  Dresden, Germany., von Kleist-Retzow JC; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany., Voermans NC; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6525 Nijmegen, The Netherlands., Jungbluth H; Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK., Dafsari HS; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.

Journal Article , 2025

An update on autophagy disorders.

Dafsari HS; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max-Planck-Institute for Biology of Ageing; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), Cologne, Germany., Martinelli D; Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Saffari A; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany., Ebrahimi-Fakhari D; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Fanto M; Department of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Dionisi-Vici C; Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina London Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.

Journal Article; Review; Research Support, Non-U.S. Gov't , 2025

The first cross-sectional comparative observational study of sexual dysfunction in Emirati and non-Emirati Parkinson's disease patients (EmPark-SD) in the United Arab Emirates.

Metta V; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience and Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK. vinod.metta@nhs.net.; Parkinson's Foundation Centre of Excellence, King's College Hospital London, Dubai, UAE. vinod.metta@nhs.net., Ibrahim H; Parkinson's Association United Arab Emirates, Dubai, UAE., Qamar MA; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience and Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK., Dhamija RK; Institute of Human Behavior and Allied Sciences, Lady Hardinge Medical College and SSK Hospital, New Delhi, India., Popławska-Domaszewicz K; Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland., Benamer HTS; College of Medicine, Mohammed Bin Rashid, University of Medicine and Health Sciences, Dubai, UAE., Loney T; College of Medicine, Mohammed Bin Rashid, University of Medicine and Health Sciences, Dubai, UAE., Mrudula R; Institute of Movement Disorders and Parkinson's Centre, City Neuro Centre, Hyderabad, India., Falup-Pecurariu C; Department of Neurology, Transilvania University of Brasov, Brasov, Romania., Rodriguez-Blazquez C; National Centre of Epidemiology and CIBERNED, Institute of Salud Carlos III, Madrid, Spain., Dafsari HS; University Hospital Cologne, Cologne, Germany., Goyal V; Institute of Movement Disorders and Parkinson's Centre, Medanta Hospitals, Delhi, India., Borgohain R; Institute of Movement Disorders and Parkinson's Centre, Medanta Hospitals, Delhi, India., Almazrouei S; Stemcell Society United Arab Emirates, Abu Dhabi, UAE., Chung-Faye G; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience and Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK., Chaudhuri KR; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience and Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK.

Journal Article; Observational Study; Comparative Study , 2024

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Nakamura Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Shimada IS; Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Fujimoto M; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Sato E; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Takase H; Core Laboratory, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Aoki S; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan., Miyauchi A; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan., Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama 2360004, Japan., Arioka Y; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya 4668550, Japan., Honda M; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.; Laboratory of Molecular and Cellular Physiology, Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima 7398526, Japan., Higashi T; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan., Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, 1608582, Japan., Okubo Y; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 9893126, Japan., Ogawa I; Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 4678603, Japan., Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1516745811, Iran., Alijanpour S; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1516745811, Iran., Ahmadabadi F; Pediatric Neurology Department, Faculty of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1546815514, Iran., Herkenrath P; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany., Dafsari HS; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.; Max-Planck-Institute for Biology of Ageing, Cologne 50931, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne 50931, Germany., Velmans C; Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, University of Cologne, Cologne 50931, Germany., Al Balwi M; Department of Pathology and Laboratory Medicine, College of Medicine, KSAU-HS, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia., Vitobello A; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon 21000, France.; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, University of Burgundy, Dijon 21000, France., Denommé-Pichon AS; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon 21000, France.; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, University of Burgundy, Dijon 21000, France., Jeanne M; Genetics Department, University Hospital of Tours, Tours 37044, France.; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Civit A; Genetics Department, University Hospital of Tours, Tours 37044, France., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Naderi H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan 4918936316, Iran., Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan 4918936316, Iran., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ 85004, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ 85004, USA., Carroll CJ; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London SW17 0RE, UK., Ghayoor Karimiani E; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London SW17 0RE, UK., Khailany RA; Department of Basic Science, Hawler Medical University, Erbil, Kurdistan Region 44001, Iraq., Abdulqadir TA; Department of Pediatrics, College of Medicine, Hawler Medical University, Erbil, Kurdistan Region 44001, Iraq., Ozaslan M; Department of Biology, Division of Molecular Biology and Genetics, Gaziantep University, Gaziantep 27410, Turkey., Bauer P; Centogene GmbH, Rostock 18055, Germany., Zifarelli G; Centogene GmbH, Rostock 18055, Germany., Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran., Al Alam C; Pediatrics and Pediatric Neurology, American Center for Psychiatry and Neurology, Abu Dhabi 108699, UAE., Alvi JR; Department of Pediatric Neurology, the Children's Hospital and the University of Child Health Sciences, Lahore 54600, Pakistan., Sultan T; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Pope SAS; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 9893126, Japan., Matsunaga T; Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 4678603, Japan., Osaka H; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan., Ozaki N; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya 4668550, Japan., Ohkawa Y; Division of Transcriptomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka 8128582, Japan., Oki S; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.; Institute of Resource Development and Analysis, Kumamoto University, Kumamoto 8600811, Japan., Tsunoda T; Laboratory for Medical Science Mathematics, Department of Biological Sciences, School of Science, The University of Tokyo, Tokyo 113-0033, Japan.; Laboratory for Medical Science Mathematics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 113-0033, Japan.; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Taketomi Y; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Murakami M; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan., Kato Y; Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.

Journal Article , 2024

Grasping the big picture: impact analysis of screening tools for timely referral for device-aided therapies.

Moes HR; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. h.r.moes@umcg.nl., Dafsari HS; Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Jost WH; Parkinson-Klinik Ortenau, Kreuzbergstr. 12‑16, Wolfach, 77709, Germany., Kovacs N; Department of Neurology, University of Pecs, Medical School, 48-as tér 1, Pecs, Hungary., Pirtošek Z; Department of Neurology, University Medical Center, Ljubljana, Slovenia.; Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Henriksen T; Movement Disorder Clinic, University Hospital of Bispebjerg, Copenhagen, Denmark., Falup-Pecurariu C; Department of Neurology, Faculty of Medicine, County Clinic Hospital, Faculty of Medicine, Transylvania University, Braşov, Romania., Minár M; Second Department of Neurology, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovakia., Buskens E; Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., van Laar T; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Journal Article; Review , 2024

Subthalamic Stimulation Improves Short-Term Satisfaction with Life and Treatment in Parkinson's Disease.

Sauerbier A; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, 50937 Cologne, Germany.; Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK., Bachon P; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, 50937 Cologne, Germany., Ambrosio L; NIHR Applied Research Collaboration Wessex, School of Health Sciences, University of Southampton, Southampton SO17 1BJ, UK., Loehrer PA; Department of Neurology, University Hospital Giessen and Marburg, Campus Marburg, 35043 Marburg, Germany., Rizos A; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, 50937 Cologne, Germany.; Parkinson Foundation International Centre of Excellence, King's College Hospital, London SE5 8AF, UK., Jost ST; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, 50937 Cologne, Germany., Gronostay A; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, 50937 Cologne, Germany., Fink GR; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, 50937 Cologne, Germany.; Cognitive Neuroscience, Institute of Neuroscience and Medicine (INM-3), Research Centre Jülich, 52428 Jülich, Germany., Ashkan K; Parkinson Foundation International Centre of Excellence, King's College Hospital, London SE5 8AF, UK., Nimsky C; Department of Neurosurgery, University Marburg, 35043 Marburg, Germany., Visser-Vandewalle V; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Stereotactic and Functional Neurosurgery, 50937 Cologne, Germany., Chaudhuri KR; Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.; Parkinson Foundation International Centre of Excellence, King's College Hospital, London SE5 8AF, UK., Timmermann L; Department of Neurology, University Hospital Giessen and Marburg, Campus Marburg, 35043 Marburg, Germany., Martinez-Martin P; Center for Networked Biomedical Research in Neurodegenerative Diseases (CIBERNED), Carlos III Institute of Health, 28029 Madrid, Spain., Dafsari HS; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, 50937 Cologne, Germany.

EUROPAR, the Non-Motor Parkinson’s Disease Research Group and the German Parkinson Society Non-Motor Symptoms Study Group

Journal Article , 2024

Stratifying quality of life outcome in subthalamic stimulation for Parkinson's disease.

Gronostay A; Department of Neurology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Jost ST; Department of Neurology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Silverdale M; Department of Neurology and Neurosurgery, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, Greater Manchester, UK., Rizos A; Parkinson Foundation International Centre of Excellence, King's College Hospital, London, UK., Loehrer PA; Department of Neurology, Philipps-University Marburg, Marburg, Germany., Evans J; Department of Neurology and Neurosurgery, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, Greater Manchester, UK., Sauerbier A; Department of Neurology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Parkinson Foundation International Centre of Excellence, King's College Hospital, London, UK., Indi D; Department of Neurology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Leta V; Parkinson Foundation International Centre of Excellence, King's College Hospital, London, UK., Reker P; Department of Neurology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Fink GR; Department of Neurology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Cognitive Neuroscience, Institute of Neuroscience and Medicine (INM-3), Research Center Jülich, Jülich, Germany., Ashkan K; Parkinson Foundation International Centre of Excellence, King's College Hospital, London, UK., Antonini A; Parkinson and Movement Disorders Unit, Department of Neurosciences (DNS), Padova University, Padova, Italy., Nimsky C; Department of Neurosurgery, Philipps-University Marburg, Marburg, Germany., Visser-Vandewalle V; Department of Stereotactic and Functional Neurosurgery, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Martinez-Martin P; Center for Networked Biomedical Research in Neurodegenerative Diseases (CIBERNED), Carlos III Institute of Health, Madrid, Spain., Ray Chaudhuri K; Parkinson Foundation International Centre of Excellence, King's College Hospital, London, UK.; Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Timmermann L; Department of Neurology, Philipps-University Marburg, Marburg, Germany., Dafsari HS; Department of Neurology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany haidar.dafsari@uk-koeln.de.

Journal Article; Multicenter Study , 2024

Predictors of short-term anxiety outcome in subthalamic stimulation for Parkinson's disease.

Sauerbier A; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany. anna.sauerbier@uk-koeln.de.; Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. anna.sauerbier@uk-koeln.de., Herberg J; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Stopic V; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Loehrer PA; Department of Neurology, University Hospital Giessen and Marburg, Campus Marburg, Marburg, Germany., Ashkan K; Parkinson Foundation International Centre of Excellence, King's College Hospital, London, UK., Rizos A; Parkinson Foundation International Centre of Excellence, King's College Hospital, London, UK., Jost ST; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Petry-Schmelzer JN; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Gronostay A; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Schneider C; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Visser-Vandewalle V; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Stereotactic and Functional Neurosurgery, Cologne, Germany., Evans J; Department of Neurology and Neurosurgery, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Greater Manchester, UK., Nimsky C; Department of Neurosurgery, University Hospital Giessen and Marburg, Campus Marburg, Marburg, Germany., Fink GR; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany.; Cognitive Neuroscience, Institute of Neuroscience and Medicine (INM-3), Research Centre Jülich, Jülich, Germany., Antonini A; Parkinson and Movement Disorders Unit, Department of Neurosciences (DNS), University of Padua, Padova, Italy., Martinez-Martin P; Center for Networked Biomedical Research in Neurodegenerative Diseases (CIBERNED), Carlos III Institute of Health, Madrid, Spain., Silverdale M; Department of Neurology and Neurosurgery, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Greater Manchester, UK., Weintraub D; Departments of Psychiatry and Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104-2676, USA., Schrag A; Department of Clinical and Movement Neurosciences, UCL Institute of Neurology, University College London, London, UK., Ray Chaudhuri K; Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.; Parkinson Foundation International Centre of Excellence, King's College Hospital, London, UK., Timmermann L; Department of Neurology, University Hospital Giessen and Marburg, Campus Marburg, Marburg, Germany., Dafsari HS; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany. haidar.dafsari@uk-koeln.de.

EUROPAR, the German Parkinson Society Non-motor Symptoms Study Group, and the International Parkinson and Movement Disorders Society Non-Motor Parkinson’s Disease Study Group

Journal Article , 2024

Evaluation of the effect of bilateral subthalamic nucleus deep brain stimulation on fatigue in Parkinson's Disease as measured by the non-motor symptoms scale.

Lazcano-Ocampo C; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, London, UK.; Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK., van Wamelen D; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, London, UK.; Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK., Samuel M; Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK.; Department of Neurology, King's College Hospital, London, UK., Silverdale M; Salford Royal NHS Foundation Trust, Department of Neurology, Salford, UK., Rizos A; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, London, UK.; Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK., Sauerbier A; Department of Neurology, University Hospital Cologne, Cologne, Germany., Koch J; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, London, UK.; Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK., Podlewska A; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, London, UK.; Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK., Leta V; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, London, UK.; Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK., Dafsari HS; Department of Neurology, University Hospital Cologne, Cologne, Germany., Timmermann L; Department of Neurology, University Hospital Cologne, Cologne, Germany., Ashkan K; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, London, UK.; Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK.; Department of Neurosurgery, King's College Hospital, London, UK., Ray Chaudhuri K; King's College London, Department of Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, London, UK.; Parkinson's Foundation Centre of Excellence, King's College Hospital, London, UK.

Journal Article , 2024

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.

Almannai M; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt., Maroofian R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Saadi NW; College of Medicine, University of Baghdad, Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq., Filimban B; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Dafsari HS; Department of Pediatrics, Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Randall Centre for Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Max-Planck-Institute for Biology of Ageing, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), Cologne, Germany., Rahman F; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Maqbool S; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Faqeih E; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Al Mutairi F; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alsharhan H; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Abdelaty O; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Bin-Hasan S; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Noureldeen MM; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt., Alqattan A; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Hunter JV; Texas Children Hospital, Houston, Texas, USA.; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Genetics Clinics, University Hospital Sharjah, Sharjah, United Arab Emirates.

Journal Article; Research Support, Non-U.S. Gov't , 2024

Microstructure predicts non-motor outcomes following deep brain stimulation in Parkinson's disease.

Loehrer PA; Department of Neurology, Philipps-University Marburg, Marburg, Germany. Loehrer@staff.uni-marburg.de.; MRC Brain Network Dynamics Unit, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom. Loehrer@staff.uni-marburg.de., Bopp MHA; Department of Neurosurgery, Philipps-University Marburg, Marburg, Germany.; Center for Mind, Brain and Behavior (CMBB), Marburg, Germany., Dafsari HS; Department of Neurology, University Hospital Cologne, Cologne, Germany., Seltenreich S; Department of Neurology, Philipps-University Marburg, Marburg, Germany., Knake S; Department of Neurology, Philipps-University Marburg, Marburg, Germany.; Center for Mind, Brain and Behavior (CMBB), Marburg, Germany.; Center for Personalized Translational Epilepsy Research (CePTER) Consortium, Cologne, Germany., Nimsky C; Department of Neurosurgery, Philipps-University Marburg, Marburg, Germany.; Center for Mind, Brain and Behavior (CMBB), Marburg, Germany., Timmermann L; Department of Neurology, Philipps-University Marburg, Marburg, Germany.; Center for Mind, Brain and Behavior (CMBB), Marburg, Germany.; Center for Personalized Translational Epilepsy Research (CePTER) Consortium, Cologne, Germany., Pedrosa DJ; Department of Neurology, Philipps-University Marburg, Marburg, Germany.; Center for Mind, Brain and Behavior (CMBB), Marburg, Germany., Belke M; Department of Neurology, Philipps-University Marburg, Marburg, Germany.; Center for Personalized Translational Epilepsy Research (CePTER) Consortium, Cologne, Germany.

Journal Article , 2024

No evidence for an association of voxel-based morphometry with short-term non-motor outcomes in deep brain stimulation for Parkinson's disease.

Loehrer PA; Department of Neurology, Philipps-University Marburg, Marburg, Germany. loehrer@staff.uni-marburg.de., Schumacher W; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany.; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Pediatrics, Cologne, Germany., Jost ST; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Silverdale M; Department of Neurology and Neurosurgery, Salford Royal Foundation Trust, Greater Manchester, United Kingdom., Petry-Schmelzer JN; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Sauerbier A; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany.; National Parkinson Foundation Centre of Excellence, King's College Hospital, London, United Kingdom., Gronostay A; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Visser-Vandewalle V; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Stereotactic and Functional Neurosurgery, Cologne, Germany., Fink GR; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany.; Cognitive Neuroscience, Institute of Neuroscience and Medicine (INM-3), Research Center Jülich, Jülich, Germany., Evans J; Department of Neurology and Neurosurgery, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Greater Manchester, United Kingdom., Krause M; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany.; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Radiation Oncology, Cyberknife Center, Cologne, Germany., Rizos A; National Parkinson Foundation Centre of Excellence, King's College Hospital, London, United Kingdom., Antonini A; Department of Neuroscience, University of Padua, Padua, Italy., Ashkan K; Department of Neurosurgery, King's College Hospital, London, United Kingdom., Martinez-Martin P; Center for Networked Biomedical Research in Neurodegenerative Diseases (CIBERNED), Carlos III Institute of Health, Madrid, Spain., Gaser C; Department of Psychiatry and Psychotherapy, Jena University Hospital, Jena, Germany.; Department of Neurology, Jena University Hospital, Jena, Germany.; German Center for Mental Health (DZPG), Site Jena-Magdeburg-Halle, Germany.; Center for Intervention and Research on adaptive and maladaptive brain Circuits underlying mental health (C-I-R-C), Jena-Magdeburg-Halle, Germany., Ray Chaudhuri K; National Parkinson Foundation Centre of Excellence, King's College Hospital, London, United Kingdom.; The Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom., Timmermann L; Department of Neurology, Philipps-University Marburg, Marburg, Germany., Baldermann JC; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany.; Klinik für Psychiatrie und Psychotherapie, Universitätsklinikum Freiburg, Freiburg im Breisgau, Germany., Dafsari HS; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany. haidar.dafsari@uk-koeln.de.

EUROPAR and the International Parkinson and Movement Disorders Society Non-Motor Parkinson’s Disease Study Group

Journal Article , 2024

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60 -Related Disorders.

Baum E; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany., Huang W; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany., Vincent-Delorme C; Clinical Genetics Unit Guy Fontaine, University Hospital of Lille, F-59037 Lille, France., Brunelle P; Institut de Génétique Médicale, University of Lille, ULR7364 RADEME, CHU Lille, F-59000 Lille, France., Antebi A; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany., Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.; Department of Pediatric Neurology, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London WC2R 2LS, UK.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.

Journal Article , 2024

Neurostimulation for Advanced Parkinson Disease and Quality of Life at 5 Years: A Nonrandomized Controlled Trial.

Jost ST; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Aloui S; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Evans J; Department of Neurology and Neurosurgery, Salford Royal NHS Foundation Trust, Manchester, UK., Ashkan K; Parkinson Foundation International Centre of Excellence, King's College Hospital, London, UK.; Academic Health Science Centre, University of Manchester, Greater Manchester, UK., Sauerbier A; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Rizos A; Parkinson Foundation International Centre of Excellence, King's College Hospital, London, UK.; Academic Health Science Centre, University of Manchester, Greater Manchester, UK., Petry-Schmelzer JN; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Gronostay A; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany., Fink GR; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany.; Cognitive Neuroscience, Institute of Neuroscience and Medicine (INM-3), Research Centre Jülich, Jülich, Germany., Visser-Vandewalle V; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Stereotactic and Functional Neurosurgery, Cologne, Germany., Antonini A; Department of Neurosciences (DNS), Padova University, Padova, Italy., Silverdale M; Department of Neurology and Neurosurgery, Salford Royal NHS Foundation Trust, Manchester, UK., Timmermann L; Department of Neurology, University Hospital Giessen and Marburg, Campus Marburg, Marburg, Germany., Martinez-Martin P; Center for Networked Biomedical Research in Neurodegenerative Diseases (CIBERNED), Carlos III Institute of Health, Madrid, Spain., Chaudhuri KR; Parkinson Foundation International Centre of Excellence, King's College Hospital, London, UK.; Academic Health Science Centre, University of Manchester, Greater Manchester, UK.; Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.; NIHR Mental Health Biomedical Research Centre and Dementia Biomedical Research Unit, South London and Maudsley NHS Foundation Trust and King's College London, London, UK., Dafsari HS; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany.

International Parkinson and Movement Disorders Society Non-Motor Parkinson’s Disease Study Group and EUROPAR

Controlled Clinical Trial; Observational Study; Journal Article; Research Support, Non-U.S. Gov't , 2024