Sökresultat - "Kvarnung, Malin"

A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene

Hammar, Björn, Paulsson, Sofia, Helgadottir, Hafdis T., Albinsson, John, Naumovska, Magdalena, Sheikh, Rafi, Kvarnung, Malin

Lund University, Faculty of Medicine, Department of Clinical Sciences, Lund, Section IV, Ophthalmology, Lund, Ophthalmology Imaging Research Group, Lunds universitet, Medicinska fakulteten, Institutionen för kliniska vetenskaper, Lund, Sektion IV, Oftalmologi, Lund, Forskargruppen för oftalmologisk avbildning, Originator, Lund University, Faculty of Medicine, Department of Clinical Sciences, Lund, Section IV, Ophthalmology, Lund, Clinical research in neuro-ophthalmology, Lunds universitet, Medicinska fakulteten, Institutionen för kliniska vetenskaper, Lund, Sektion IV, Oftalmologi, Lund, Klinisk forskning inom neuro oftalmologi, Originator, Lund University, Faculty of Medicine, Department of Clinical Sciences, Lund, Section IV, Ophthalmology, Lund, Lunds universitet, Medicinska fakulteten, Institutionen för kliniska vetenskaper, Lund, Sektion IV, Oftalmologi, Lund, Originator, Lund University, Faculty of Engineering, LTH, LTH Profile areas, LTH Profile Area: Photon Science and Technology, Lunds universitet, Lunds Tekniska Högskola, LTH profilområden, LTH profilområde: Avancerade ljuskällor, Originator

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder

Kvarnung, Malin^{Aff1, Aff2, IDs41431024017228_cor1}, Pettersson, Maria^{Aff1, Aff2}, Chun-on, Pattra^Aff3, Rafati, Maryam, McReynolds, Lisa J., Norberg, Anna, Moura, Pedro Luis, Pesonen, Ida^{Aff7, Aff8}, Chaireti, Roza^{Aff1, Aff9, Aff10}, Grönros Söderholm, Boa, Burlin, Julia, Rydén, Jenny^{Aff6, Aff9}, Lindberg, Eva Hellström^{Aff6, Aff9}, Giri, Neelam, Savage, Sharon A., Agarwal, Suneet, Nordgren, Ann^{Aff1, Aff2, Aff12, Aff13, Aff14}, Tesi, Bianca^{Aff1, Aff2, Aff6}

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Delgado-Vega, Angelica Maria^{Aff1, Aff2, IDs41588024019411_cor1}, Cederroth, Helene, Taylan, Fulya^{Aff1, Aff2}, Ekholm, Katja^{Aff1, Aff2}, Ek, Marlene^{Aff1, Aff2}, Thonberg, Håkan^{Aff1, Aff2}, Jemt, Anders^{Aff4, Aff5}, Nilsson, Daniel^{Aff1, Aff6}, Eisfeldt, Jesper^{Aff1, Aff6}, Bilgrav Saether, Kristine, Höijer, Ida^{Aff7, Aff8}, Akgun-Dogan, Ozlem^{Aff9, Aff10, Aff11}, Asano, Yui, Barakat, Tahsin Stefan^{Aff13, Aff14, Aff15}, Batkovskyte, Dominyka, Baynam, Gareth^{Aff16, Aff17, Aff18, Aff19}, Bodamer, Olaf, Chetruengchai, Wanna^{Aff21, Aff22}, Corcoran, Pádraic^{Aff7, Aff8}, Couse, Madeline, Danis, Daniel, Demidov, German, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, Roberto^{Aff31, Aff32, Aff33, Aff34}, Gonzaga-Jauregui, Claudia, Grigelioniene, Giedre^{Aff1, Aff2}, Groza, Tudor^{Aff16, Aff35, Aff36, Aff37}, Gunnarsson, Cecilia, Hammarsjö, Anna^{Aff1, Aff2}, Hammond, Charles Kumi^{Aff9, Aff39}, Hatirnaz Ng, Özden^{Aff10, Aff11, Aff40}, Hesketh, Sirisha, Hettiarachchi, Dineshani, Johansson Soller, Maria^{Aff1, Aff2}, Kirmani, Umn Ahmed, Kjellberg, Martin, Kvarnung, Malin^{Aff1, Aff2}, Kvlividze, Oleg^{Aff45, Aff46}, Lagerstedt-Robinson, Kristina^{Aff1, Aff2}, Lasko, Paul, Lassmann, Timo, Lau, Lynette Y. S., Laurie, Steven^{Aff50, Aff51}, Lim, Weng Khong^{Aff35, Aff52, Aff53, Aff54}, Liu, Zhandong, Lysenkova Wiklander, Mariya^{Aff8, Aff56}, Makay, Prince, Maiga, Alassane Baneye, Maya-González, Carolina, Meyn, M. Stephen^{Aff59, Aff60}, Neethiraj, Ramprasad^{Aff4, Aff61}, Nigro, Vincenzo^{Aff62, Aff63}, Nordgren, Felix, Nordlund, Jessica^{Aff8, Aff56}, Orrsjö, Sara^{Aff65, Aff66}, Ottosson, Jesper^{Aff65, Aff66}, Ozbek, Ugur^{Aff10, Aff67}, Özdemir, Özkan^{Aff10, Aff40}, Partin, Clyde^{Aff68, Aff69}, Pearce, David A.^{Aff70, Aff71, Aff72, Aff73}, Peck, Raquel, Pedersen, Annie^{Aff65, Aff66}, Pettersson, Maria^{Aff1, Aff2}, Pongpanich, Monnat^{Aff75, Aff76}, Posada de la Paz, Manuel^{Aff77, Aff78}, Ramani, Arun, Romero, Juan Andres, Romero, Vanessa I., Rosenquist, Richard^{Aff1, Aff2, Aff5}, Saw, Aung Min^{Aff81, Aff82}, Spencer, Matthew, Stattin, Eva-Lena, Srichomthong, Chalurmpon^{Aff21, Aff22}, Tapia-Paez, Isabel, Taruscio, Domenica^{Aff85, Aff86}, Taylor, Julie P., Tkemaladze, Tinatin^{Aff88, Aff89, Aff90}, Tully, Ian^{Aff81, Aff91}, Tümer, Zeynep^{Aff92, Aff93}, van Zelst-Stams, Wendy A. G., Verloes, Alain^{Aff95, Aff96}, Västerviga, Emma^{Aff97, Aff98}, Wang, Sailan, Yang, Rachel^{Aff99, Aff100}, Yamamoto, Shinya^{Aff101, Aff102}, Yépez, Vicente A., Zhang, Qing, Shotelersuk, Vorasuk^{Aff21, Aff22}, Wiafe, Samuel Agyei, Alanay, Yasemin^{Aff9, Aff10, Aff11}, Botto, Lorenzo D., Kirmani, Salman, Lumaka, Aimé^{Aff57, Aff107, Aff108}, Palmer, Elizabeth Emma^{Aff109, Aff110}, Puri, Ratna Dua^{Aff30, Aff111}, Wirta, Valtteri^{Aff1, Aff4}, Lindstrand, Anna^{Aff1, Aff2}, Buske, Orion J., Cederroth, Mikk, Nordgren, Ann^{Aff1, Aff2, Aff65, Aff66, IDs41588024019411_cor104}

Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis

Eisfeldt, Jesper, Schuy, Jakob, Stattin, Eva-Lena, Kvarnung, Malin, Falk, Anna, Feuk, Lars, Lindstrand, Anna

Lund University, Faculty of Medicine, Department of Experimental Medical Science, Neural stem cells, Lunds universitet, Medicinska fakulteten, Institutionen för experimentell medicinsk vetenskap, Neurala stamceller, Originator, Lund University, Profile areas and other strong research environments, Strategic research areas (SRA), StemTherapy: National Initiative on Stem Cells for Regenerative Therapy, Lunds universitet, Profilområden och andra starka forskningsmiljöer, Strategiska forskningsområden (SFO), StemTherapy: National Initiative on Stem Cells for Regenerative Therapy, Originator

Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency

Ek, Marlene^{Aff1, Aff2, IDs41598024815077_cor1}, Kvarnung, Malin^{Aff1, Aff2}, Pettersson, Maria^{Aff1, Aff2}, Soller, Maria Johansson^{Aff1, Aff2}, Anderlid, Britt-Marie^{Aff1, Aff2}, Thonberg, Håkan^{Aff1, Aff2}, Eisfeldt, Jesper^{Aff1, Aff2, Aff3}, Lindstrand, Anna^{Aff1, Aff2}

Genomic screening and causes of rare disorders / Malin Kvarnung

Kvarnung, Malin, 1971-

Book , 2016

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

Lindstrand, Anna, Ek, Marlene, Kvarnung, Malin, Anderlid, Britt-Marie, Bjoerck, Erik, Carlsten, Jonas, Eisfeldt, Jesper, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjoe, Anna, Helgadottir, Hafdis T., Hellstroem-Pigg, Maritta, Kuchinskaya, Ekaterina, Lagerstedt-Robinson, Kristina, Levin, Lars-Åke, Lieden, Agne, Lindeloef, Hillevi, Malmgren, Helena, Nilsson, Daniel, Svensson, Eva, Paucar, Martin, Sahlin, Ellika, Tesi, Bianca, Tham, Emma, Winberg, Johanna, Winerdal, Max, Wincent, Josephine, Soller, Maria Johansson, Pettersson, Maria, Nordgren, Ann

electronic

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert BA, Vissers, Lisenka ELM, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, CAUSES Study, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen EH, van Gassen, Koen LI, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, SPARK Consortium, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E

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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette JV, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs WE, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, Eichler, Evan E

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette JV, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs WE, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, Eichler, Evan E

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Ataxia syndrome with hearing loss and nephronophthisis associated with a novel homozygous variant in XPNPEP3

Ben-Shabat, Ilan, Kvarnung, Malin, Sperker, Wolfgang, Bruhn, Helene, Wredenberg, Anna, Wibom, Rolf, Nennesmo, Inger, Engvall, Martin, Paucar, Martin

electronic

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.

De Geer, Karl, Löfgren, Stefan, Lindstrand, Anna, Kvarnung, Malin, Björck, Erik

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R, Sanders, Stephan J, Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S, Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H, Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T, Humberson, Jennifer B, Robak, Laurie, Scott, Daryl A, Sutton, Vernon R, Skraban, Cara M, Johnston, Jennifer J, Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H, Bongers, Ernie MHF, Gilissen, Christian, Zarate, Yuri A, Kvarnung, Malin, Lally, Kevin P, Kulch, Peggy A, Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R, Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M, Klee, Eric W, Sapp, Julie C, Zyskind, Jacob, Holla, Øystein L, Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L, Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N, Dewan, Tammie, Coban Akdemir, Zeynep H, Telegrafi, Aida, Zackai, Elaine H, Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M, Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, CAUSES Study, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I, Pichurin, Pavel N, Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L, Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G, Lowenstein, Dan, Posey, Jennifer E, Denommé-Pichon, Anne-Sophie

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DLG4-related synaptopathy: a new rare brain disorder

Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V.A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C.E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A.L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M.B.H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B.A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, Tümer, Zeynep

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Whitman, Mary C.^{Aff1, Aff2}, Barry, Brenda J.^{Aff3, Aff4}, Robson, Caroline D.^{Aff5, Aff6}, Facio, Flavia M., Van Ryzin, Carol, Chan, Wai-Man^{Aff3, Aff4}, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela^{Aff13, Aff35}, FitzGibbon, Edmond J., Lee, Paul R.^{Aff7, Aff15}, Toro, Camilo, Paul, Scott M.^{Aff16, Aff17}, Abdul-Rahman, Omar A.^{Aff18, Aff36, Aff37}, Webb, Bryn D.^{Aff12, Aff19}, Jabs, Ethylin Wang^{Aff19, Aff20, Aff21}, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan^{Aff23, Aff24}, Ragnhild, Glad, Wirgenes, Katrine V.^{Aff26, Aff27}, Tham, Emma^{Aff28, Aff29}, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G.^{Aff1, Aff2}, Collins, Francis S.^{Aff7, Aff32}, Manoli, Irini^Aff7, Engle, Elizabeth C.^{Aff3, Aff4, Aff33, Aff34}

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, Holly AF, Xiong, Bo, Coe, Bradley P, Wang, Tianyun, Hoekzema, Kendra, Fenckova, Michaela, Kvarnung, Malin, Gerdts, Jennifer, Trinh, Sandy, Cosemans, Nele, Vives, Laura, Lin, Janice, Turner, Tychele N, Santen, Gijs, Ruivenkamp, Claudia, Kriek, Marjolein, van Haeringen, Arie, Aten, Emmelien, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Haan, Eric, Shaw, Marie, Gecz, Jozef, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Schwartz, Charles, Kooy, R Frank, Vandeweyer, Geert, Helsmoortel, Celine, Romano, Corrado, Alberti, Antonino, Vinci, Mirella, Avola, Emanuela, Giusto, Stefania, Courchesne, Eric, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Amaral, David G, Scheffer, Ingrid E, Delatycki, Martin B, Lockhart, Paul J, Hormozdiari, Fereydoun, Harich, Benjamin, Castells-Nobau, Anna, Xia, Kun, Peeters, Hilde, Nordenskjöld, Magnus, Schenck, Annette, Bernier, Raphael A, Eichler, Evan E

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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

Méreaux, Jean-Loup^{Aff1, Aff2, Aff3}, Firanescu, Cristina, Coarelli, Giulia^{Aff1, Aff5}, Kvarnung, Malin^{Aff6, Aff7}, Rodrigues, Rita, Pegoraro, Elena, Tazir, Meriem, Taithe, Frédéric, Valter, Rémi^{Aff1, Aff3}, Huin, Vincent, Lidström, Kristina, Banneau, Guillaume, Morais, Sara^{Aff1, Aff3, Aff13}, Parodi, Livia^{Aff1, Aff3, Aff14}, Coutelier, Marie^{Aff1, Aff3}, Papin, Mélanie^{Aff1, Aff3}, Svenningsson, Per^{Aff4, Aff15}, Azulay, Jean-Philippe, Alonso, Isabel^{Aff13, Aff17}, Nilsson, Daniel^{Aff6, Aff7}, Brice, Alexis, Le Guern, Eric, Press, Rayomand^{Aff4, Aff15}, Vazza, Giovanni, Loureiro, José Leal, Goizet, Cyril^{Aff18, Aff19}, Durr, Alexandra^{Aff1, Aff5}, Paucar, Martin^{Aff4, Aff15}, Stevanin, Giovanni^{Aff1, Aff3, Aff12, Aff20}

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Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.

Tvergaard, Nicolai Kohring, Tkemaladze, Tinatin, Stödberg, Tommy, Kvarnung, Malin, Tatton‐Brown, Katrina, Baralle, Diana, Tümer, Zeynep, Bayat, Allan