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- [1] Autosomal-dominant proximal spinal muscular atrophy caused by mutations in a novel gene-motor adaptor BICD2EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 94 - 94Peeters, K.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-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumLitvinenko, I.论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Dept Pediat, Clin Child Neurol, Sofia, Bulgaria Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumChamova, T.论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Dept Neurol, Univ Hosp Alexandrovska, Fac Med, Sofia, Bulgaria Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumAsselbergh, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2020 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, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2020 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, BelgiumGeuens, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2020 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, M.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-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumIrobi, J.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, E.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-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumDe Winter, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2020 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, T.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-2020 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, I.论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Dept Neurol, Univ Hosp Alexandrovska, Fac Med, Sofia, Bulgaria New Bulgarian Univ, Dept Cognit Sci & Psychol, Sofia, Bulgaria Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumJordanova, A.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-2020 Antwerp, Belgium Med Univ, Mol Med Ctr, Dept Med Chem & Biochem, Sofia, Bulgaria Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium
- [2] 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:
- [3] Autosomal-dominant spinal muscular atrophy due to mutations in BICD2 gene in Bulgarian patientsNEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 888 - 888Peeters, K.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 VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumLitvinenko, I.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Clin Child Neurol, Sofia, Bulgaria Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium论文数: 引用数: h-index:机构:Asselbergh, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumAlmeida-Souza, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumGeuens, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumYdens, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumZimon, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumIrobi, J.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, E.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 VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumDe Winter, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumOoms, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumTimmerman, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumTournev, I.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Univ Hosp Alexandrovska, Sofia, Bulgaria Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumJordanova, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium
- [4] 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
- [5] Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin proteinFRONTIERS IN NEUROSCIENCE, 2015, 9Martinez-Carrera, Lilian A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, Cologne, GermanyWirth, Brunhilde论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, Cologne, Germany Univ Cologne, Inst Genet, Inst Human Genet, Cologne, Germany
- [6] Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutationsMUSCLE & NERVE, 2016, 54 (03) : 496 - 500Rudnik-Schoeneborn, Sabine论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany Med Univ Innsbruck, Div Human Genet, Peter Mayr Str 1, A-6020 Innsbruck, Austria Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyDeden, Florian论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyEggermann, Katja论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyEggermann, Thomas论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Essen Gesamthsch, Inst Human Genet, Essen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanySellhaus, Bernd论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Neuropathol, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyYamoah, Alfred论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Neuropathol, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyGoswami, Anand论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Neuropathol, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyClaeys, Kristl G.论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Neuropathol, Aachen, Germany Uniklin RWTH Aachen, Dept Neurol, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyWeis, Joachim论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Neuropathol, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyZerres, Klaus论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany
- [7] Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2CONGENITAL ANOMALIES, 2023, 63 (02) : 52 - 53Matsui, Sachiko论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Neonatol, Kobe, Hyogo, Japan Hyogo Prefectural Kobe Childrens Hosp, Dept Neonatol, Kobe, Hyogo, JapanIwatani, Sota论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Neonatol, Kobe, Hyogo, Japan Hyogo Prefectural Kobe Childrens Hosp, Dept Neonatol, Perinatal Ctr, 1-6-7 Minatojima Minamimachi,Chuo Ku, Kobe, Hyogo 6500047, Japan Hyogo Prefectural Kobe Childrens Hosp, Dept Neonatol, Kobe, Hyogo, JapanMorisada, Naoya论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Clin Genet, Kobe, Hyogo, Japan Hyogo Prefectural Kobe Childrens Hosp, Dept Neonatol, Kobe, Hyogo, Japan论文数: 引用数: h-index:机构:Yoshimoto, Seiji论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Neonatol, Kobe, Hyogo, Japan Hyogo Prefectural Kobe Childrens Hosp, Dept Neonatol, Kobe, Hyogo, Japan
- [8] Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic ParaplegiaAMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (06) : 965 - 973Oates, Emily C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaRossor, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHafezparast, Majid论文数: 0 引用数: 0 h-index: 0机构: Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaGonzalez, Michael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, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaSpeziani, Fiorella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, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaMacArthur, Daniel G.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst Harvard & MIT, Boston, MA 02142 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaLek, Monkol论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst Harvard & MIT, Boston, MA 02142 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaCottenie, Ellen论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaScoto, 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 Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaFoley, A. Reghan论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHurles, Matthew论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England UCL Inst Neurol, Neurogenet Lab, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaGreensmith, Linda论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaAuer-Grumbach, Michaela论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Div Orthopaed, A-1090 Vienna, Austria Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaPieber, Thomas R.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Div Endocrinol & Metab, Dept Internal Med, A-8036 Graz, Austria Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-85748 Garching, Germany Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaSchule, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, D-72074 Tubingen, Germany Univ Tubingen, Ctr Neurol, Dept Neurodegenerat Dis, D-72074 Tubingen, Germany Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHerrmann, 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 Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaSowden, 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 Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaAcsadi, Gyula论文数: 0 引用数: 0 h-index: 0机构: Connecticut Childrens Med Ctr, Dept Neurol, Hartford, CT 06106 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaMenezes, Manoj P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaClarke, Nigel F.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaZuechner, 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, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaMuntoni, 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 Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaNorth, Kathryn N.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia Univ Melbourne, Dept Paediat, Parkville, Vic 3010, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia
- [9] Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotypeJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2014, 85 (05): : 590 - 592Synofzik, Matthis论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany German Res Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, GermanyMartinez-Carrera, Lilian A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, Cologne, Germany Univ Cologne, Ctr Mol Med, D-50931 Cologne, Germany Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, GermanyLindig, Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Radiol Diagnost & Intervent Neuroradiol, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, GermanySchoels, Ludger论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany German Res Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, GermanyWirth, Brunhilde论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, Cologne, Germany Univ Cologne, Ctr Mol Med, D-50931 Cologne, Germany Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany
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