학술논문
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'학술논문'
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1~20
Academic Journal
Allen, Jeffrey A ; Lin, Jie ; Basta, Ivana ; Dysgaard, Tina ; Eggers, Christian ; Guptill, Jeffrey T ; Gwathmey, Kelly G ; Hewamadduma, Channa ; Hofman, Erik ; Hussain, Yessar M ; Kuwabara, Satoshi ; Le Masson, Gwendal ; Leypoldt, Frank ; Chang, Ting ; Lipowska, Marta ; Lowe, Murray ; Lauria, Giuseppe ; Querol, Luis ; Simu, Mihaela-Adriana ; Suresh, Niraja ; Tse, Anissa ; Ulrichts, Peter ; Van Hoorick, Benjamin ; Yamasaki, Ryo ; Lewis, Richard A ; van Doorn, Pieter A
In The Lancet Neurology October 2024 23(10):1013-1024
Academic Journal
Sabet, A.; George, K.; Roberts, L.; Carne, R.; Blum, S.; Henderson, R.; Van Damme, P.; Demeestere, J.; Larue, S.; D'Amour, C.; Bril, V.; Breiner, A.; Kunc, P.; Valis, M.; Sussova, J.; Kalous, T.; Talab, R.; Bednar, M.; Toomsoo, T.; Rubanovits, I.; Gross-Paju, K.; Sorro, U.; Saarela, M.; Auranen, M.; Pouget, J.; Attarian, S.; Le Masson, G.; Wielanek-Bachelet, A.; Desnuelle, C.; Delmont, E.; Clavelou, P.; Aufauvre, D.; Schmidt, J.; Zschuentssch, J.; Sommer, C.; Kramer, D.; Hoffmann, O.; Goerlitz, C.; Haas, J.; Chatzopoulos, M.; Yoon, R.; Gold, R.; Berlit, P.; Jaspert-Grehl, A.; Liebetanz, D.; Kutschenko, A.; Stangel, M.; Trebst, C.; Baum, P.; Bergh, F.; Klehmet, J.; Meisel, A.; Klostermann, F.; Oechtering, J.; Lehmann, H.; Schroeter, M.; Hagenacker, T.; Mueller, D.; Sperfeld, A.; Bethke, F.; Drory, V.; Algom, A.; Yarnitsky, D.; Murinson, B.; Di Muzio, A.; Ciccocioppo, F.; Sorbi, S.; Mata, S.; Schenone, A.; Grandis, M.; Lauria, G.; Cazzato, D.; Antonini, G.; Morino, S.; Cocito, D.; Zibetti, M.; Yokota, T.; Ohkubo, T.; Kanda, T.; Kawai, M.; Kaida, K.; Onoue, H.; Kuwabara, S.; Mori, M.; Iijima, M.; Ohyama, K.; Baba, M.; Tomiyama, M.; Nishiyama, K.; Akutsu, T.; Yokoyama, K.; Kanai, K.; van Schaik, I.N.; Eftimov, F.; Notermans, N.C.; Visser, N.; Faber, C.; Hoeijmakers, J.; Rejdak, K.; Chyrchel-Paszkiewicz, U.; Casanovas Pons, C.; Alberti Aguiló, M.; Gamez, J.; Figueras, M.; Marquez Infante, C.; Benitez Rivero, S.; Lunn, M.; Morrow, J.; Gosal, D.; Lavin, T.; Melamed, I.; Testori, A.; Ajroud-Driss, S.; Menichella, D.; Simpson, E.; Chi-Ho Lai, E.; Dimachkie, M.; Barohn, R.J.; Beydoun, S.; Johl, H.; Lange, D.; Shtilbans, A.; Muley, S.; Ladha, S.; Freimer, M.; Kissel, J.; Latov, N.; Chin, R.; Ubogu, E.; Mumfrey, S.; Rao, T.; MacDonald, P.; Sharma, K.; Gonzalez, G.; Allen, J.; Walk, D.; Hobson-Webb, L.; Gable, K.; van Schaik, Ivo N ; Bril, Vera ; van Geloven, Nan ; Hartung, Hans-Peter ; Lewis, Richard A ; Sobue, Gen ; Lawo, John-Philip ; Praus, Michaela ; Mielke, Orell ; Durn, Billie L ; Cornblath, David R ; Merkies, Ingemar S J
In The Lancet Neurology January 2018 17(1):35-46
Academic Journal
Cooperstein, Isabelle B.; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N.; Carter, Jennefer N.; Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H; La Spada, Albert R; Huang, Alden; Paul, Alex; Miller, Alexander; Bale, Allen; McConkie-Rosell, Allyn; Krokosky, Alyson; Tran, Alyssa A; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Slavotinek, Anne; Nouraee, Arian; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Iverson, Ayuko; Pusey Swerdzewski, Barbara N; Anguiano, Beatriz; Afzali, Ben; Solomon, Ben; Martin, Beth A; Russell, Bianca E; Wilk, Brandon M; Mitchell, Breanna; Lanpher, Brendan C; Lee, Brendan H; Fogel, Brent L; Bordini, Brett; Graham, Brett H; Tucker, Brianna; Gelb, Bruce; Korf, Bruce; MacRae, Calum A; Toro, Camilo; Skraban, Cara; Bacino, Carlos A; Pardo-Villamizar, Carlos A; Prada, Carlos; Oladele, Carol; Hendry, Caroline; Smith, Carson A; Shyr, Cathy; Esteves, Cecilia; Xiao, Changrui; Cunningham-Rundles, Charlotte; Reuter, Chloe M; Eng, Christine M; Mayhew, Christopher; Chan, Chun-Hung; Wahl, Colleen E; Welt, Corrine K; Tifft, Cynthia J; Kiley, Dana; Sayer, Dana; Rader, Daniel J; Wegner, Daniel; Miller, Danny E; Scott, Daryl A; Viskochil, Dave; Sweetser, David A; Adams, David R; Barbouth, Deborah; Rao, Deepak A; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; velasq, Francisco Bustos; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K; Seto, Elaine; Kravets, Elijah; Rosenthal, Elisabeth; Worthey, Elizabeth A; Burke, Elizabeth A; Blue, Elizabeth; Chao, Elizabeth C; Fieg, Elizabeth L; Wohler, Elizabeth; Macnamara, Ellen F; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Mendonca, Eneida; Allenspach, Eric; Gamazon, Eric; Gayle, Eric; Klee, Eric; Vilain, Eric; Davis, Erica; Conboy, Erin; Baldwin, Erin E; McRoy, Erin; Dell'Angelica, Esteban C; Ashley, Euan A; Cole, F Sessions; Vairo, Filippo Pinto E; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M; Marth, Gabor; Jarvik, Gail P; Clark, Gary D; Carvalho, George; Berry, Gerard T; Mirzaa, Ghayda; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Mendez, Hector Rodrigo; Wood, Heidi; Taylor, Herman; Tabor, Holly K; Dai, Hongzheng; Chao, Hsiao-Tuan; Xu, Hua; Bellen, Hugo J; Zhang, Hui; Glass, Ian; Lanza, Ian R; Holm, Ingrid A; Kohane, Isaac S; Ward, Isum; Chinn, Ivan; Pallais, J Carl; Sampson, Jacinda B; Orengo, James P; Verbsky, James; Sninsky, Jared; Hom, Jason; Schend, Jason; Kohler, Jennefer N; Morgan, Jennifer; Schymick, Jennifer; Tousseau, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A; Shin, Jimann; Stoler, Joan M; Jen, Joanna; Gonzalez, Joanna M; Phillips, John A; Carey, John; Gorzynski, John E; Mulvihill, John J; Davis, Joie; Bernstein, Jonathan A; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D; Martínez-Agosto, Julian A; Hoover-Fong, Julie; McCarrier, Julie; Alvey, Justin; Darr, Kahlen; Yap, Kai Lee; Callaway, Kaitlin; Leppig, Kathleen A; Page, Kathleen; Sullivan, Kathleen; Sisco, Kathy; Dipple, Katrina; Treat, Kayla M; Hassey, Kelly; Regan-Fendt, Kelly; Schoch, Kelly; Smith, Kevin S; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Blanco, Kirsten; Latchman, Kumarie; Perera, Lakshitha; Rodan, Lance H; Keehan, Laura; Cobban, Laurel A; Blieden, Lauren; Briere, Lauren C; Jeffries, Lauren; Wiel, Laurens; Abi Farraj, Layal F; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C; Mulvihill, Lindsay; Bastarache, Lisa; Schimmenti, Lisa; Emrick, Lisa T; Botto, Lorenzo; Potocki, Lorraine; Bier, Louise; Rives, Lynette; Wolfe, Lynne A; Barbosa, Mafalda; Steenari, Maija-Rikka; Butte, Manish J; Balwani, Manisha; Delgado, Margaret; Romero, María José Ortuño; Silva, María Paula; Acosta, Maria T; Morimoto, Marie; Nakano-Okuno, Mariko; Shadrina, Mariya; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G; Rodriguez, Martin; Koziura, Mary; Velinder, Matt; Coggins, Matthew; Might, Matthew; Robinson, Matthew; Wheeler, Matthew T; Malicdan, MayChristine V; Bell, Megan; Halley, Meghan C; Walker, Melissa; Levanto, Mia; Bamshad, Michael; Wangler, Michael F; Muriello, Michael; Zimmermann, Michael T; Spencer-Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Hubshman, Monika Weisz; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Sobreira, Nara; Parker, Neil H; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M; Dargie, Nitsuh K; Kaufman, Odelya; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C; Moretti, Paolo; Ward, Patricia A; Dickson, Patricia; McMullen, Patrick; Auwaerter, Paul; Berger, Paul; Fisher, Paul G; Liu, Pengfei; Byers, Peter; Witmer, Philip Dane; Bayrak-Toydemir, Pinar; Lertwilaiwittaya, Pongtawat; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A; Evard, Rachel; Li, Rachel; Quarells, Rakale C; Rajagopalan, Ramakrishnan; Alvarez, Raquel L; Blackburn, Reaford; Spillmann, Rebecca C; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A; Chang, Richard; Maas, Richard L; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Shuman, Saskia; Lalani, Seema R; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R; Kobren, Shilpa N; Yamamoto, Shinya; Mane, Shrikant; Chanprasert, Sirisak; Nelson, Stanley F; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M; Montgomery, Stephen B; Pak, Stephen C; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Shin, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D; Mamidi, Tarun KK; Beagle, Taylor; Maurer, Taylor; Washington, Teneasha; Serrano, Teodoro Jerves; Coakley, Terra R; Cassini, Thomas; Nicholas, Thomas J; Schedl, Timothy; Vogel, Tiphanie P; Jobanputra, Vaidehi; Maduro, Valerie V; Shashi, Vandana; Vasiliou, Vasilis; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A; Byrd, William E; Craigen, William J; Halstead, Winston; Timp, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong-Hui; Manabe, Yuka; Berger, Zackary Dov; Guo, Ziyuan
Genome Medicine. October 21, 2025, Vol. 17 Issue 1
Academic Journal
Allen JA; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.; Querol L; Department of Neurology, Neuromuscular Diseases Unit, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.; Centro De Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain.; Suresh N; Lakeland Regional Health, Lakeland, FL, USA.; Remmerie A; argenx, Ghent, Belgium.; Mole T; argenx, Ghent, Belgium.; McCoy K; Patient author.; GBS/CIDP Foundation, Conshohocken, PA, USA.; Butler L; GBS/CIDP Foundation, Conshohocken, PA, USA.; van Hoorick B; argenx, Ghent, Belgium.; Kuwabara S; Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.; van Doorn PA; Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands.; Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Publisher: SAGE Country of Publication: England NLM ID: 101480242 Publication Model: eCollection Cited Medium: Print ISSN: 1756-2856 (Print) Linking ISSN: 17562856 NLM ISO Abbreviation: Ther Adv Neurol Disord Subsets: PubMed not MEDLINE
Academic Journal
Kosmanopoulos, Gage P; Donohue, Jack K; Hoke, Maya; Thomas, Simone; Peyton, Margo A; Vo, Linh; Crawford, Thomas O; Sadjadi, Reza; Herrmann, David N; Yum, Sabrina W; Reilly, Mary M; Scherer, Steven S; Finkel, Richard S; Lewis, Richard A; Pareyson, Davide; Pisciotta, Chiara; Walk, David; Shy, Michael E; Sumner, Charlotte J; Network, Inherited Neuropathies Consortium - Rare Disease Clinical Research
Academic Journal
Beheshti ST; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Westerfield LE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, 77030, USA.; Munderloh C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Kalra D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Wu Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Chen Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Gingras MC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Yilmaz S; Dr. Sare Nur Yilmaz, Independent Practice, Istanbul, 34758, Turkey.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Lead Contact.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Record, Christopher J; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna M E; Lloyd, Thomas E; Horvath, Rita; Sadjadi, Reza; Herrmann, David N; Li, Jun; Walk, David; Yum, Sabrina W; Lewis, Richard A; Day, John; Burns, Joshua; Finkel, Richard S; Saporta, Mario A; Ramchandren, Sindhu
Academic Journal
Diaz F; Board of Governors Regenerative Medicine Institute, Cedars-Siniai Medical Center, Los Angeles, California, USA.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Thornton JS; Neuroradiological Academic Unit, UCL Queen Square Institute of Neurology, London, UK.; Wastling SS; Neuroradiological Academic Unit, UCL Queen Square Institute of Neurology, London, UK.; Asaab A; Neuroradiological Academic Unit, UCL Queen Square Institute of Neurology, London, UK.; Morrow JM; Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Zafeiropoulos N; Neuroradiological Academic Unit, UCL Queen Square Institute of Neurology, London, UK.; Bresee C; Biostatistics Shared Resources, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Allred P; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Novartis Institutes for Biomedical Research, Cambridge, Massachusetts, USA.; Avalos P; Board of Governors Regenerative Medicine Institute, Cedars-Siniai Medical Center, Los Angeles, California, USA.; Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Baloh RH; Board of Governors Regenerative Medicine Institute, Cedars-Siniai Medical Center, Los Angeles, California, USA.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Novartis Institutes for Biomedical Research, Cambridge, Massachusetts, USA.; Svendsen CN; Board of Governors Regenerative Medicine Institute, Cedars-Siniai Medical Center, Los Angeles, California, USA.
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE
Academic Journal
Bertini A; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England.; Pisciotta C; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Previtali SC; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Neurology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.; Parman Y; Neuromuscular Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.; Battaloglu E; Bogazici University, Department of Molecular Biology and Genetics, Istanbul, Turkey.; Laurà M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England.; Blake J; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norfolk, UK.; Sacconi S; Université Côte d'Azur, Service Système Nerveux Périphérique, Muscle et SLA, Centre Hospitalier Universitaire de Nice, Nice, France.; Attarian S; Reference Center for Neuromuscular Disorders and ALS, CHU la Timone, Aix-Marseille University, Marseille, France.; Stojkovic T; APHP, Sorbonne Université, Hôpital Pitié-Salpêtrière, Centre de référence Des Maladies Neuromusculaires Nord/Est/Ile de France, Paris, France.; Bellatache M; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria.; Nouioua S; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria.; Tazir M; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria.; Cakar A; Neuromuscular Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.; Gambardella A; Department of Neurology, Università Magna Graecia di Catanzaro, Catanzaro, Italy.; Valentino P; Department of Neurology, Università Magna Graecia di Catanzaro, Catanzaro, Italy.; Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Zambon AA; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Neurology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.; Sabatelli M; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Centro Clinico Nemo Adulti Rome, Rome, Italy.; Luigetti M; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, UOC Neurologia, Rome, Italy.; Università Cattolica del Sacro Cuore, Sede di Roma, Rome, Italy.; Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy.; Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy.; Herrmann DN; Department of Neurology, University of Rochester, Rochester, New York, USA.; Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Kressin N; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Ward K; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Bolino A; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Shy ME; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Pareyson D; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE
Academic Journal
Khan K; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Tavares E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Bishara K; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Ozanturk A; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Qebibo L; Malformations and Cerebellar Congenital Diseases Reference Center, Sorbonne Université, Hôpital Trousseau, Paris, France.; Pediatric Molecular Neurogenetics Laboratory, Genetics Department, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France.; Frangakis S; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Meunier I; Institute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.; Bocquet B; Institute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.; Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw Poland.; Al Khateeb MA; Women's Wellness Research Center and Neonatal Intensive Care Unit, Hamad Medical Corporation, Weill Cornell Medicine, Doha, Qatar.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Mansard L; Molecular Genetics Laboratory, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Auragen Laboratory, Plan France Medecine Genomique 2025, Lyon, France.; Damaj L; Department of Clinical Genetics, Competence Center of Inherited Metabolic Disorders, Rennes Hospital, Rennes, France.; Lewis RA; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Arbogast T; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Ogden JP; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Harion M; Malformations and Cerebellar Congenital Diseases Reference Center, Sorbonne Université, Hôpital Trousseau, Paris, France.; Neuropediatrics Department, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France.; Willems M; Institute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.; Department of Medical Genetics, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Roux AF; Molecular Genetics Laboratory, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Auragen Laboratory, Plan France Medecine Genomique 2025, Lyon, France.; Lupski JR; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw Poland.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Ramond F; Auragen Laboratory, Plan France Medecine Genomique 2025, Lyon, France.; Department of Genetics, Centre Hospitalier Universitaire de Saint-Étienne, Saint-Étienne, France.; Heon E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Burglen L; Pediatric Molecular Neurogenetics Laboratory, Genetics Department, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR1163, 75015 Paris, France.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE
Academic Journal
Lewis, Richard A; Laing, Emma; Allenby, Nicholas; Bucca, Giselda; Brenner, Volker; Harrison, Marcus; Kierzek, Andrzej M; Smith, Colin P
Academic Journal
Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana SA; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran B; Karimiani, Ehsan G; Maroofian, Reza; Schaefer, Gerald B; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E; Carvill, Gemma L; Mefford, Heather; Acosta, MT; Adam, M; Adams, DR; Alvarez, RL; Alvey, J; Amendola, L; Andrews, A; Ashley, EA; Bacino, CA; Bademci, G; Balasubramanyam, A; Baldridge, D; Bale, J; Bamshad, M; Barbouth, D; Bayrak-Toydemir, P; Beck, A; Beggs, AH; Behrens, E; Bejerano, G; Bellen, HJ; Bennett, J; Berg-Rood, B; Bernstein, JA; Berry, GT; Bican, A; Bivona, S; Blue, E; Bohnsack, J; Bonner, D; Botto, L; Boyd, B; Briere, LC; Brown, G; Burke, EA; Burrage, LC; Butte, MJ; Byers, P; Byrd, WE; Carey, J; Carrasquillo, O; Cassini, T; Chang, TCP; Chanprasert, S; Undiagnosed Diseases Network, .
Academic Journal
van Doorn PA; Department of Neurology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Van den Bergh PYK; Neuromuscular Reference Centre, Department of Neurology, University Hospital Saint-Luc, Brussels, Belgium.; Hadden RDM; Department of Neurology, King's College Hospital, London, UK.; Avau B; Cochrane Belgium, CEBAM, Leuven, Belgium.; CEBaP, Belgian Red Cross, Mechelen, Belgium.; Vankrunkelsven P; Department of Public Health and Primary Care KU Leuven, Cochrane Belgium, CEBAM, Leuven, Belgium.; Attarian S; Centre de Référence des Maladies Neuromusculaires et de la SLA, APHM, CHU Timone, Marseille, France.; Blomkwist-Markens PH; Patient Representative GBS/CIDP Foundation International, International Office, Conshohocken, Pennsylvania, USA.; Cornblath DR; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Goedee HS; Department of Neurology, University Medical Center Utrecht, Brain Center UMC Utrecht, Utrecht, The Netherlands.; Harbo T; Department of Neurology, Aarhus University Hospital, Aarhus, Denmark.; Jacobs BC; Department of Neurology and Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Kusunoki S; Department of Neurology, Faculty of Medicine, Kindai University, Osaka, Japan.; Lehmann HC; Department of Neurology, Medical Faculty Köln, University Hospital Köln, Cologne, Germany.; Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Lunn MP; Department of Neurology and MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.; Nobile-Orazio E; Neuromuscular and Neuroimmunology Service, IRCCS Humanitas Research Institute, Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.; Querol L; Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.; Rajabally YA; Neuromuscular Service, Neurology, Queen Elizabeth Hospital Birmingham, Birmingham, UK.; Umapathi T; Department of Neurology, National Neuroscience Institute, Singapore.; Topaloglu HA; Department of Pediatrics, Yeditepe University, Istanbul, Turkey.; Willison HJ; Glasgow Biomedical Research Centre, University of Glasgow, Glasgow, UK.
Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE
Academic Journal
Kramer C; F. Hoffmann-La Roche Ltd. Pharma Research and Early Development, Basel 4070, Switzerland.; Chodera J; Memorial Sloan Kettering Cancer Center, New York, New York 10065, United States.; Damm-Ganamet KL; In Silico Discovery, Therapeutics Discovery, Johnson & Johnson Innovative Medicine, San Diego, California 92121, United States.; Gilson MK; Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, California 92093-0736, United States.; Günther J; Bayer AG, Drug Discovery Sciences, 13353 Berlin, Germany.; Lessel U; Medicinal Chemistry, Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss 88397, Germany.; Lewis RA; Global Discovery Chemistry, Novartis Pharma AG, Basel 4002, Switzerland.; Mobley D; Departments of Pharmaceutical Sciences and Chemistry, University of California Irvine, Irvine, California 92697, United States.; Nittinger E; Medicinal Chemistry, Research and Early Development, Respiratory and Immunology (R&I), BioPharmaceuticals R&D, AstraZeneca, 43183 Gothenburg, Sweden.; Pecina A; Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences, Prague 16000, Czech Republic.; Schapira M; Structural Genomics Consortium and Department of Pharmacology & Toxicology, University of Toronto, Toronto, Ontario M5G 1L7, Canada.; Walters WP; Computation, Relay Therapeutics, Cambridge, Massachusetts 02141, United States.
Publisher: American Chemical Society Country of Publication: United States NLM ID: 101230060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-960X (Electronic) Linking ISSN: 15499596 NLM ISO Abbreviation: J Chem Inf Model Subsets: MEDLINE
Academic Journal
Swart G; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Skolka MP; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Shelly S; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Neurology, Rambam Health Care Clinic, Haifa, Israel.; Lewis RA; Department of Neurology, Cedars Sinai, Los Angeles, California, USA.; Allen JA; Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.; Dubey D; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Niu Z; Department of Neurology, Cedars Sinai, Los Angeles, California, USA.; Spies J; Royal Prince Alfred Hospital, University of Sydney, Sydney, Australia.; Laughlin RS; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Thakolwiboon S; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Santilli AR; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Rashed H; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Mirman I; Department of Neurology, The University of Tennessee Medical Center, Knoxville, Tennessee, USA.; Swart A; Department of Neurosurgery, Mayo Clinic, Rochester, Minnesota, USA.; Berini SE; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Shouman K; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Pinto MV; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Mauermann ML; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Mills JR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Dyck PJB; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Harmsen WS; Clinical Trials and Biostatistics, Mayo Clinic, Rochester, Minnesota, USA.; Mandrekar J; Clinical Trials and Biostatistics, Mayo Clinic, Rochester, Minnesota, USA.; Klein CJ; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE
Academic Journal
Panrudkevich A; Mayo Clinic Alix School of Medicine, Rochester, Minnesota, USA.; Jabari D; Department of Neurology, Cedars Sinai, Los Angeles, California, USA.; Putko B; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Daley C; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Lewis RA; Department of Neurology, Cedars Sinai, Los Angeles, California, USA.; Dubey D; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Pinto MV; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE
Academic Journal
Wiessner, Manuela; Maroofian, Reza; Zhu, Changlian; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, Jan; Uhrova Meszarosova, Anna; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T; Strom, Tim M; De Jonghe, Peter; Ni, Meng-Yuan; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P; Portier, Ruben; Bergmann, Carsten; Ghasemi Firouzabadi, Saghar; Pedroni, Andrea; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Müller, Juliane S; Wood, Nick W; Tran Mau-Them, Frederic; Haack, Tobias; Genomics England Research Consortium, PREPARE network; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Stucka, Rolf; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laëtitia; Schmitt, Emmanuelle; Beetz, Christian; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J H; Grand, Katheryn; Graham, John M; Lewis, Richard A; Millan, Francisca; Efthymiou, Stephanie; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schöls, Ludger; Nürnberg, Peter; Nürnberg, Gudrun; Catala Bordes, Andrea; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Santorelli, Filippo M; Rebelo, Adriana; Bouçanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S; Shamseldin, Hanan; Al Tala, Saeed; Rezazadeh Varaghchi, Jamileh; Najafi, Maryam; Alfares, Ahmed A; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca
Brain 144(5), 1422-1434 (2021). doi:10.1093/brain/awab041
Brain, 144, 5, pp. 1422-1434
Brain
Brain, vol 144, iss 5
Brain, 144, 5, pp. 1422-1434
Brain
Brain, vol 144, iss 5
Academic Journal
Pipis, Menelaos; Feely, Shawna M E; Polke, James M; Skorupinska, Mariola; Perez, Laura; Shy, Rosemary R; Laura, Matilde; Morrow, Jasper M; Moroni, Isabella; Pisciotta, Chiara; Taroni, Franco; Vujovic, Dragan; Lloyd, Thomas E; Acsadi, Gyula; Yum, Sabrina W; Lewis, Richard A; Finkel, Richard S; Herrmann, David N; Day, John W; Li, Jun
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