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- [21] Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophyACTA NEUROPATHOLOGICA COMMUNICATIONS, 2020, 8 (01)Rossor, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, England UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, EnglandSleigh, James N.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, England UCL, UK Dementia Res Inst, London WC1E 6BT, England UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, EnglandGroves, Michael论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, England UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, EnglandMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England UCL, Inst Child Hlth, Natl Inst Hlth Res, Great Ormond St Hosp,Biomed Res Ctr, London WC1N 1EH, England UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, EnglandReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, England UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, EnglandHoogenraad, Casper C.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Dept Biol, Cell Biol Neurobiol & Biophys, Padualaan 8, NL-3584 CH Utrecht, Netherlands UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, EnglandSchiavo, Giampietro论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, England UCL, UK Dementia Res Inst, London WC1E 6BT, England Discoveries Ctr Regenerat & Precis Med, Univ Coll London Campus, London WC1N 3BG, England UCL, UCL Queen Sq Inst Neurol, Queen Sq, London WC1N 3BG, England
- [22] Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)BMJ CASE REPORTS, 2022, 15 (03)Aziz, Iqra论文数: 0 引用数: 0 h-index: 0机构: Royal North Shore Hosp, St Leonards, NSW, Australia Royal North Shore Hosp, St Leonards, NSW, AustraliaDavis, Mark论文数: 0 引用数: 0 h-index: 0机构: PathWest Lab Med Western Australia, Diagnost Genom, Nedlands, WA, Australia Royal North Shore Hosp, St Leonards, NSW, Australia论文数: 引用数: h-index:机构:
- [23] Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular AtrophyAMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (06) : 946 - 954Neveling, Kornelia论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsMartinez-Carrera, Lilian A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, D-50931 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsHoelker, Irmgard论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, D-50931 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsHeister, Angelien论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsVerrips, Aad论文数: 0 引用数: 0 h-index: 0机构: Canisius Wilhelmina Hosp, Dept Pediat Neurol, NL-6532 SZ Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsHosseini-Barkooie, Seyyed Mohsen论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, D-50931 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6525 GA Nijmegen, Netherlands Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsVermeer, Sascha论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsPennings, Maartje论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsMeijer, Rowdy论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlandste Riele, Margot论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Neurol, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsFrijns, Catharina J. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Neurol, NL-3508 GA Utrecht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsSuchowersky, Oksana论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Dept Med Neurol, Edmonton, AB T6G 2B7, Canada Univ Alberta, Dept Med Genet, Edmonton, AB T6G 2B7, Canada Univ Alberta, Dept Psychiat, Edmonton, AB T6G 2B7, Canada Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsMacLaren, Linda论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Alberta Childrens Hosp, Calgary, AB T2N 4N1, Canada Univ Calgary, Dept Pediat, Alberta Childrens Hosp, Calgary, AB T2N 4N1, Canada Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsRudnik-Schoeneborn, Sabine论文数: 0 引用数: 0 h-index: 0机构: Univ Aachen, Inst Human Genet, D-52057 Aachen, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsSinke, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Dept Genet, NL-9713 GZ Groningen, Netherlands Univ Med Ctr Groningen, NL-9713 GZ Groningen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsZerres, Klaus论文数: 0 引用数: 0 h-index: 0机构: Univ Aachen, Inst Human Genet, D-52057 Aachen, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsLowry, R. Brian论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Alberta Childrens Hosp, Calgary, AB T2N 4N1, Canada Univ Calgary, Dept Pediat, Alberta Childrens Hosp, Calgary, AB T2N 4N1, Canada Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsLemmink, Henny H.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Dept Genet, NL-9713 GZ Groningen, Netherlands Univ Med Ctr Groningen, NL-9713 GZ Groningen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsGarbes, Lutz论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, D-50931 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsVeltman, Joris A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsSchelhaas, Helenius J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Neurol, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsScheffer, Hans论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, NetherlandsWirth, Brunhilde论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, D-50931 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
- [24] Expanding the phenotype of BICD2 mutations toward skeletal muscle involvementNEUROLOGY, 2016, 87 (21) : 2235 - 2243Unger, Andreas论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyDekomien, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Human Genet, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyGuettsches, Anne论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Neurol, Heimer Inst Muscle Res, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyDreps, Thomas论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyKley, Rudolf论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Neurol, Heimer Inst Muscle Res, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyTegenthoff, Martin论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Neurol, Heimer Inst Muscle Res, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyFerbert, Andreas论文数: 0 引用数: 0 h-index: 0机构: Klinikum Kassel, Kassel Med Sch, Kassel, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyWeis, Joachim论文数: 0 引用数: 0 h-index: 0机构: RWTH Univ Hosp Aachen, Inst Neuropathol, Aachen, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyHeyer, Christoph论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Katholisches Klinikum Bochum, Inst Pediat Radiol, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyLinke, Wolfgang A.论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyMartinez-Carrera, Lilian论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Ctr Mol Med, Inst Human Genet, Cologne, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyStorbeck, Markus论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Ctr Mol Med, Inst Human Genet, Cologne, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyWirth, Brunhilde论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Ctr Mol Med, Inst Human Genet, Cologne, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyHoffjan, Sabine论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Human Genet, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyVorgerd, Matthias论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Neurol, Heimer Inst Muscle Res, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, Germany
- [25] Dominant spinal muscular atrophy with lower extremity predominance Linkage to 14q32NEUROLOGY, 2010, 75 (06) : 539 - 546Harms, M. B.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USA Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USAAllred, P.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USA Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USAGardner, R., Jr.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USA Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USAFilho, J. A. Fernandes论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska, Sch Med, Dept Neurol, Omaha, NE 68198 USA Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USAFlorence, J.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USA Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USA论文数: 引用数: h-index:机构:Al-Lozi, M.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USA Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USABaloh, R. H.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USA Hope Ctr Neurol Disorders, St Louis, MO USA Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USA
- [26] The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyBRAIN, 2015, 138Bansagi, Boglarka论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, MRC,Ctr Neuromuscular Dis, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, MRC,Ctr Neuromuscular Dis, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandGriffin, Helen论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, MRC,Ctr Neuromuscular Dis, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, MRC,Ctr Neuromuscular Dis, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandRamesh, Venkateswaran论文数: 0 引用数: 0 h-index: 0机构: Newcastle Upon Tyne Fdn Hosp NHS Trust, Royal Victoria Infirm, Dept Paediat Neurol, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, MRC,Ctr Neuromuscular Dis, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandDuff, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, MRC,Ctr Neuromuscular Dis, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandPyle, Angela论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, MRC,Ctr Neuromuscular Dis, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandChinnery, Patrick F.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, MRC,Ctr Neuromuscular Dis, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHorvath, Rita论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, MRC,Ctr Neuromuscular Dis, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, MRC,Ctr Neuromuscular Dis, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
- [27] Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant InheritanceAMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (06) : 955 - 964Peeters, Kristien论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumLitvinenko, Ivan论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Pediat, Clin Child Neurol, Sofia 1000, Bulgaria Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumAsselbergh, Bob论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Centralized Serv Facil, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumAlmeida-Souza, Leonardo论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Peripheral Neuropathy Grp, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumChamova, Teodora论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia 1000, Bulgaria Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumGeuens, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Peripheral Neuropathy Grp, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium论文数: 引用数: h-index:机构:Zimon, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumIrobi, Joy论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Centralized Serv Facil, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumDe Vriendt, Els论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumDe Winter, Vicky论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Peripheral Neuropathy Grp, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumOoms, Tinne论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium论文数: 引用数: h-index:机构:Tournev, Ivailo论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia 1000, Bulgaria New Bulgarian Univ, Dept Cognit Sci & Psychol, Sofia 1618, Bulgaria Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium论文数: 引用数: h-index:机构:
- [28] Management of muscle relaxation with rocuronium in an infant with spinal muscular atrophy with lower extremity predominance type 2BANAESTHESIA REPORTS, 2023, 11 (02)Shimazu, Y.论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Anaesthesiol, Kobe, Japan Sakakibara Heart Inst, Dept Anaesthesiol, Tokyo, Japan Hyogo Prefectural Kobe Childrens Hosp, Dept Anaesthesiol, Kobe, JapanSueda, A.论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Anaesthesiol, Kobe, Japan Hyogo Prefectural Kobe Childrens Hosp, Dept Anaesthesiol, Kobe, JapanKagawa, T.论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Anaesthesiol, Kobe, Japan Hyogo Prefectural Kobe Childrens Hosp, Dept Anaesthesiol, Kobe, Japan
- [29] Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyBRAIN, 2015, 138Rossor, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, England UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandOates, Emily C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Westmead, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Fac Med, Sydney, NSW 2006, Australia UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandSalter, Hannah K.论文数: 0 引用数: 0 h-index: 0机构: MRC, Mol Biol Lab, Div Cell Biol, Cambridge CB2 0QH, England UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandLiu, Yang论文数: 0 引用数: 0 h-index: 0机构: MRC, Mol Biol Lab, Div Cell Biol, Cambridge CB2 0QH, England UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandMurphy, Sinead M.论文数: 0 引用数: 0 h-index: 0机构: Natl Childrens Hosp, Adelaide & Meath Hosp, Dept Neurol, Dublin, Ireland Univ Dublin Trinity Coll, Acad Unit Neurol, Dublin 2, Ireland UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandSchule, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72074 Tubingen, Germany Univ Tubingen, Dept Neurodegenerat Dis, Ctr Neurol, D-72074 Tubingen, Germany UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandGonzales, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, John P Hussman Inst Human Genom, Sch Med, Miami, FL 33136 USA UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandScoto, Mariacristina论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandPhadke, Rahul论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, England UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandSewry, Caroline A.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, England UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, England论文数: 引用数: h-index:机构:Tournev, Iyailo论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia 1000, Bulgaria New Bulgarian Univ, Dept Cognit Sci & Psychol, Sofia, Bulgaria UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandChamova, Teodora论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia 1000, Bulgaria UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandLitvinenko, Ivan论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Paediat, Clin Child Neurol, Sofia 1000, Bulgaria UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandZuchner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, John P Hussman Inst Human Genom, Sch Med, Miami, FL 33136 USA UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandHerrmann, David N.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Pathol, Rochester, NY 14642 USA UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandBlake, Julian论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin Neurophysiol, Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England Norfolk & Norwich Univ Hosp, Dept Clin Neurophysiol, Norwich, Norfolk, England UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandSowden, Janet E.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandAcsadi, Gyuda论文数: 0 引用数: 0 h-index: 0机构: Connecticut Childrens Med Ctr, Dept Neurol, Hartford, CT 06106 USA UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandRodriguez, Michael L.论文数: 0 引用数: 0 h-index: 0机构: Sydney Local Hlth Dist, Dept Forens Med, Glebe, NSW 2037, Australia Univ Sydney, Sydney Med Sch, Discipline Pathol, Sydney, NSW 2006, Australia UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandMenezes, Manoj P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Westmead, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Fac Med, Sydney, NSW 2006, Australia UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandClarke, Nigel F.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Westmead, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Fac Med, Sydney, NSW 2006, Australia UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandGrumbach, Michaela Auer论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Div Orthopaed, A-1090 Vienna, Austria UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandBullock, Simon L.论文数: 0 引用数: 0 h-index: 0机构: MRC, Mol Biol Lab, Div Cell Biol, Cambridge CB2 0QH, England UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, England UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, EnglandNorth, Kathryn N.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Westmead, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Fac Med, Sydney, NSW 2006, Australia Royal Childrens Hospital, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia Univ Melbourne, Dept Paediat, Parkville, Vic 3010, Australia UCL Inst Neurol, Ctr Neuromuscular Dis, MRC, London WC1N 3BG, England
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