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- [1] A GFPT1 deficient mouse model of congenital myasthenic syndromeNEUROMUSCULAR DISORDERS, 2016, 26 : S33 - S33Issop, Y.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, MRC Ctr Neuromuscular Dis, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, MRC Ctr Neuromuscular Dis, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, EnglandLaval, S. H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, MRC Ctr Neuromuscular Dis, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, MRC Ctr Neuromuscular Dis, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, EnglandLochmueller, H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, MRC Ctr Neuromuscular Dis, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, MRC Ctr Neuromuscular Dis, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England
- [2] Phenotypic variability in congenital myasthenic syndrome with GFPT1 mutationACTA NEUROLOGICA BELGICA, 2025, 125 (01) : 209 - 213Vallepu, Suresh Babu论文数: 0 引用数: 0 h-index: 0机构: G B Pant Hosp, Govind Ballabh Pant Postgrad Inst Med Educ & Res, Dept Neurol, Room 501, New Delhi 110002, India G B Pant Hosp, Govind Ballabh Pant Postgrad Inst Med Educ & Res, Dept Neurol, Room 501, New Delhi 110002, IndiaDhamija, Kamakshi论文数: 0 引用数: 0 h-index: 0机构: MAX Superspecial Hosp, Dept Neurol, New Delhi, India G B Pant Hosp, Govind Ballabh Pant Postgrad Inst Med Educ & Res, Dept Neurol, Room 501, New Delhi 110002, IndiaRajan, Gurdeep Kumar论文数: 0 引用数: 0 h-index: 0机构: G B Pant Hosp, Govind Ballabh Pant Postgrad Inst Med Educ & Res, Dept Neurol, Room 501, New Delhi 110002, India G B Pant Hosp, Govind Ballabh Pant Postgrad Inst Med Educ & Res, Dept Neurol, Room 501, New Delhi 110002, IndiaPanchal, Tarang论文数: 0 引用数: 0 h-index: 0机构: G B Pant Hosp, Govind Ballabh Pant Postgrad Inst Med Educ & Res, Dept Neurol, Room 501, New Delhi 110002, India G B Pant Hosp, Govind Ballabh Pant Postgrad Inst Med Educ & Res, Dept Neurol, Room 501, New Delhi 110002, IndiaSaran, Ravindra Kumar论文数: 0 引用数: 0 h-index: 0机构: Govind Ballabh Pant Postgrad Inst Med Educ & Res, Dept Pathol, New Delhi 110002, India G B Pant Hosp, Govind Ballabh Pant Postgrad Inst Med Educ & Res, Dept Neurol, Room 501, New Delhi 110002, IndiaRoshan, Sujata论文数: 0 引用数: 0 h-index: 0机构: G B Pant Hosp, Govind Ballabh Pant Postgrad Inst Med Educ & Res, Dept Neurol, Room 501, New Delhi 110002, India G B Pant Hosp, Govind Ballabh Pant Postgrad Inst Med Educ & Res, Dept Neurol, Room 501, New Delhi 110002, India
- [3] Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1NEUROLOGY-GENETICS, 2020, 6 (04)Szelinger, Szabolcs论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USAKrate, Jonida论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USARamsey, Keri论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USAStrom, Samuel P.论文数: 0 引用数: 0 h-index: 0机构: Fulgent Genet, Temple City, CA USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USAShieh, Perry B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90024 USA David Geffen Sch Med, Los Angeles, CA USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USALee, Hane论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USA David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USABelnap, Newell论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USABalak, Chris论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USASiniard, Ashley L.论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USARussell, Megan论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USARichholt, Ryan论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USADe Both, Matt论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USAClaasen, Ana M.论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USASchrauwen, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Ctr Stat Genet, New York, NY USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USANelson, Stanley F.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USA David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USAHuentelman, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USACraig, David W.论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Calif, Dept Translat Genom, Los Angeles, CA 90007 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USAYang, Samuel P.论文数: 0 引用数: 0 h-index: 0机构: Providence Sacred Heart Med Ctr & Childrens Hosp, Spokane, WA USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USAMoore, Steven A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Dept Pathol, Iowa City, IA 52242 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USASivakumar, Kumaraswamy论文数: 0 引用数: 0 h-index: 0机构: Neuromuscular Clin & Res Ctr, Phoenix, AZ USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USANarayanan, Vinodh论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USARangasamy, Sampathkumar论文数: 0 引用数: 0 h-index: 0机构: Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA Ctr Rare Childhood Disorders, Neurogen Div, Translat Genom Res Inst, Phoenix, AZ 85004 USA
- [4] Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutationBRAIN & DEVELOPMENT, 2019, 41 (05): : 470 - 473Matsumoto, Chihiro论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Neurol, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, Japan Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Neurol, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, JapanMori-Yoshimura, Madoka论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Neurol, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, Japan Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Neurol, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, Japan论文数: 引用数: h-index:机构:Endo, Yukari论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, Japan Natl Ctr Neurol & Psychiat, Med Genome Ctr, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, Japan Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Neurol, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, JapanOya, Yasushi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Neurol, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, Japan Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Neurol, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, JapanMurata, Miho论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Neurol, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, Japan Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Neurol, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, Japan论文数: 引用数: h-index:机构:Takahashi, Yuji论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Neurol, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, Japan Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Neurol, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878551, Japan
- [5] THE CLINICAL PHENOTYPIC SPECTRUM OF GFPT1 ASSOCIATED CONGENITAL MYASTHENIC SYNDROMEJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2012, 83 (03):Chaouch, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Oxford OX1 2JD, EnglandMueller, J. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Oxford OX1 2JD, EnglandGuergueltcheva, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Oxford OX1 2JD, EnglandMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Oxford OX1 2JD, EnglandBushby, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Oxford OX1 2JD, EnglandStraub, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Oxford OX1 2JD, EnglandPalace, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Oxford OX1 2JD, EnglandBeeson, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Oxford OX1 2JD, EnglandAbicht, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Oxford OX1 2JD, EnglandLochmuller, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Oxford OX1 2JD, England
- [6] Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsJOURNAL OF NEUROLOGY, 2012, 259 (05) : 838 - 850Guergueltcheva, Velina论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Alexandrovska, Neurol Clin, Sofia, Bulgaria Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMueller, Juliane S.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandDusl, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSenderek, Jan论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Neuropathol, Aachen, Germany Rhein Westfal TH Aachen, Inst Human Genet, Aachen, Germany Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England论文数: 引用数: h-index:机构:Lindbergh, Christopher论文数: 0 引用数: 0 h-index: 0机构: Sahlgrens Univ Hosp, Neuromuscular Ctr, Gothenburg, Sweden Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMaxwell, Susan论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Clin Neurol, Neurosci Grp, Weatherall Inst Mol Med, Oxford, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandColomer, Jaume论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Unit Patol Neuromuscular, Serv Neurol, Barcelona, Spain Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMallebrera, Cecilia Jimenez论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Unit Patol Neuromuscular, Serv Neurol, Barcelona, Spain Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandNascimento, Andres论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Unit Patol Neuromuscular, Serv Neurol, Barcelona, Spain Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandVilchez, Juan J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Polit, Serv Neurol, Cnico Fe & CIBER Enfermedades Neurodegenerat, Valencia, Spain Univ Hosp, Serv Neurol, Valencia, Spain Politecn La Fe, Valencia, Spain CIBER Enfermedades Neurodegenerat CIBERNED, Valencia, Spain Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMuelas, Nuria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Polit, Serv Neurol, Cnico Fe & CIBER Enfermedades Neurodegenerat, Valencia, Spain Univ Hosp, Serv Neurol, Valencia, Spain Politecn La Fe, Valencia, Spain CIBER Enfermedades Neurodegenerat CIBERNED, Valencia, Spain Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandKirschner, Janbernd论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Div Neuropaediat & Muscle Disorders, Freiburg, Germany Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandNafissi, Shahriar论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Dept Neurol, Tehran, Iran Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandKariminejad, Ariana论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandNilipour, Yalda论文数: 0 引用数: 0 h-index: 0机构: Toos Hosp, Neuropathol Lab, Tehran, Iran Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBozorgmehr, Bita论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandNajmabadi, Hossein论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandRodolico, Carmelo论文数: 0 引用数: 0 h-index: 0机构: AOU G Martino, Dept Neurosci, Messina, Italy AOG G Martino, Dept Psychiat, Messina, Italy AOG G Martino, Dept Anaesthesiol, Messina, Italy Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSieb, Joern P.论文数: 0 引用数: 0 h-index: 0机构: Hanse Klinikum, Dept Neurol Geriatr Med & Palliat Care, Stralsund, Germany Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSchlotter, Beate论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSchoser, Benedikt论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHerrmann, Ralf论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Essen, Dept Paediat 1, Essen, Germany Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandVoit, Thomas论文数: 0 引用数: 0 h-index: 0机构: UPMC INSERM CNRS AIM 76, Inst Myol, Unit Mixte Rech, Grp Hosp Pitie Salpetrie,U974,UMR 7215, Paris, France Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSteinlein, Ortrud K.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Inst Human Genet, Munich, Germany Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandNajafi, Abdolhamid论文数: 0 引用数: 0 h-index: 0机构: Azad Univ, Med Branch, Tehran, Iran Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandUrtizberea, Andoni论文数: 0 引用数: 0 h-index: 0机构: Hop Marin, Hendaye, France Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSoler, Doriette M.论文数: 0 引用数: 0 h-index: 0机构: Mater Dei Hosp, Dept Paediat, Msida, Malta Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHanna, Michael G.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandChaouch, Amina论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandStraub, Volker论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBushby, Kate论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandPalace, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England论文数: 引用数: h-index:机构:Abicht, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
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