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- [42] Mutational analysis of calpain 3 gene in Korean patients with limb-girdle muscular dystrophy type 2ANEUROMUSCULAR DISORDERS, 2006, 16 : S72 - S73Kim, Dae-Seong论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ Hosp, Med Res Inst, Dept Neurol, Pusan, South KoreaKim, Hyang-Suk论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ Hosp, Med Res Inst, Dept Neurol, Pusan, South KoreaShin, Jin-Hong论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ Hosp, Med Res Inst, Dept Neurol, Pusan, South KoreaPark, Yeong-Eun论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ Hosp, Med Res Inst, Dept Neurol, Pusan, South KoreaLee, Chang-Hoon论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ Hosp, Med Res Inst, Dept Neurol, Pusan, South KoreaKim, Cheol-Min论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ Hosp, Med Res Inst, Dept Neurol, Pusan, South KoreaPark, Kyu-Hyun论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ Hosp, Med Res Inst, Dept Neurol, Pusan, South Korea
- [43] Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2ANEUROLOGY, 2001, 56 (05) : 692 - 693Talim, B论文数: 0 引用数: 0 h-index: 0机构: Ist Ortoped Rizzoli, Lab Neuromuscular Pathol, I-40136 Bologna, ItalyOgnibene, A论文数: 0 引用数: 0 h-index: 0机构: Ist Ortoped Rizzoli, Lab Neuromuscular Pathol, I-40136 Bologna, ItalyMattioli, E论文数: 0 引用数: 0 h-index: 0机构: Ist Ortoped Rizzoli, Lab Neuromuscular Pathol, I-40136 Bologna, ItalyRichard, I论文数: 0 引用数: 0 h-index: 0机构: Ist Ortoped Rizzoli, Lab Neuromuscular Pathol, I-40136 Bologna, ItalyAnderson, LVB论文数: 0 引用数: 0 h-index: 0机构: Ist Ortoped Rizzoli, Lab Neuromuscular Pathol, I-40136 Bologna, ItalyMerlini, L论文数: 0 引用数: 0 h-index: 0机构: Ist Ortoped Rizzoli, Lab Neuromuscular Pathol, I-40136 Bologna, Italy
- [44] A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophyBRAIN, 2011, 134 : 171 - 182Hicks, Debbie论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSarkozy, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMuelas, N.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Fe, Dept Neurol, Valencia, Spain Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandKoehler, K.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Childrens Hosp, Dresden, Germany Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England论文数: 引用数: h-index:机构:Hudson, G.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Ageing & Hlth, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandChinnery, P. F.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Ageing & Hlth, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBarresi, R.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Upon Tyne Hosp Trust, Muscle Immunoanal Unit, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandEagle, M.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandPolvikoski, T.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Ageing & Hlth, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBailey, G.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, No Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMiller, J.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandRadunovic, A.论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, Neurosci Clin Acad Unit, London E1 1BB, England Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHughes, P. J.论文数: 0 引用数: 0 h-index: 0机构: Hurstwood Pk Neurol Ctr, Haywards Heath, W Sussex, England Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandRoberts, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Dundee, Ninewells Hosp & Med Sch, Dundee DD1 9SY, Scotland Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandKrause, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Friedrich Baur Inst, Munich, Germany Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandWalter, M. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Friedrich Baur Inst, Munich, Germany Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandLaval, S. H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandStraub, V.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandLochmueller, H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBushby, K.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
- [45] Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy PatientsFRONTIERS IN NEUROSCIENCE, 2021, 15论文数: 引用数: h-index:机构:Fichna, Jakub Piotr论文数: 0 引用数: 0 h-index: 0机构: Polish Acad Sci, Mossakowski Med Res Inst, Dept Neurodegenerat Disorders, Lab Neurogenet, Warsaw, Poland Med Univ Warsaw, Dept Neurol, Warsaw, PolandTopolewska, Malgorzata论文数: 0 引用数: 0 h-index: 0机构: Polish Acad Sci, Nencki Inst Expt Biol, Lab Mol Basis Cell Motil, Warsaw, Poland Med Univ Warsaw, Dept Neurol, Warsaw, PolandRedowicz, Maria J.论文数: 0 引用数: 0 h-index: 0机构: Polish Acad Sci, Nencki Inst Expt Biol, Lab Mol Basis Cell Motil, Warsaw, Poland Med Univ Warsaw, Dept Neurol, Warsaw, PolandKaminska, Anna M.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Neurol, Warsaw, Poland Med Univ Warsaw, Dept Neurol, Warsaw, PolandKostera-Pruszczyk, Anna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Neurol, Warsaw, Poland Med Univ Warsaw, Dept Neurol, Warsaw, Poland
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- [47] The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular DystrophyCELLS, 2025, 14 (06)Valls, Andrea论文数: 0 引用数: 0 h-index: 0机构: Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, Spain Spanish Natl Hlth Inst Carlos iii, Carlos Hlth Inst 3, CiberNed, Av Monforte de Lemos 3-5, Madrid 28029, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainRuiz-Roldan, Cristina论文数: 0 引用数: 0 h-index: 0机构: Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainImmanuel, Jenita论文数: 0 引用数: 0 h-index: 0机构: Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, Spain Spanish Natl Hlth Inst Carlos iii, Carlos Hlth Inst 3, CiberNed, Av Monforte de Lemos 3-5, Madrid 28029, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainAlonso-Martin, Sonia论文数: 0 引用数: 0 h-index: 0机构: Spanish Natl Hlth Inst Carlos iii, Carlos Hlth Inst 3, CiberNed, Av Monforte de Lemos 3-5, Madrid 28029, Spain Biogipuzkoa Hlth Res Inst, Stem Cells & Aging Grp, Bioengn Area, San Sebastian 20014, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainGallardo, Eduard论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu i St Pau, Dept Genet, Barcelona, Spain Inst Recerca St Pau IR StPau, Barcelona 08041, Spain Ctr Biomed Network Res Rare Dis CIBERER, Carlos Hlth Inst 3, Spanish Minist Sci & Innovat, Madrid 28029, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainFernandez-Torron, Roberto论文数: 0 引用数: 0 h-index: 0机构: Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, Spain Spanish Natl Hlth Inst Carlos iii, Carlos Hlth Inst 3, CiberNed, Av Monforte de Lemos 3-5, Madrid 28029, Spain Hosp Univ Donostia, Osakidetza, Dept Neurol, E-20014 San Sebastian, Guipuzcoa, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainBonilla, Mario论文数: 0 引用数: 0 h-index: 0机构: Biogipuzkoa Hlth Res Inst, Stem Cells & Aging Grp, Bioengn Area, San Sebastian 20014, Spain Osakidetza, Donostialdea Integrated Hlth Org, Dept Traumatol, San Sebastian, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainLersundi, Ana论文数: 0 引用数: 0 h-index: 0机构: Osakidetza, Donostialdea Integrated Hlth Org, Dept Traumatol, San Sebastian, Spain Univ Basque Country UPV EHU, Dept Nusing 2, San Sebastian 20014, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainHernandez-Lain, Aurelio论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Dept Neuropathol, Madrid 28041, Spain Inst Invest Sanitaria Hosp 12 Octubre imas12, Madrid 28041, Spain Complutense Univ Madrid UCM, Fac Med, Dept Pathol, Madrid 28040, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainDominguez-Gonzalez, Cristina论文数: 0 引用数: 0 h-index: 0机构: Ctr Biomed Network Res Rare Dis CIBERER, Carlos Hlth Inst 3, Spanish Minist Sci & Innovat, Madrid 28029, Spain Inst Invest Sanitaria Hosp 12 Octubre imas12, Madrid 28041, Spain Hosp 12 Octubre, Dept Neurol, Neuromuscular Unit, Madrid 28041, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainVilchez, Juan Jesus论文数: 0 引用数: 0 h-index: 0机构: Ctr Biomed Network Res Rare Dis CIBERER, Carlos Hlth Inst 3, Spanish Minist Sci & Innovat, Madrid 28029, Spain Inst Invest Sanitaria La Fe, Neuromuscular & Ataxias Res Grp, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainIruzubieta, Pablo论文数: 0 引用数: 0 h-index: 0机构: Spanish Natl Hlth Inst Carlos iii, Carlos Hlth Inst 3, CiberNed, Av Monforte de Lemos 3-5, Madrid 28029, Spain Biogipuzkoa Hlth Res Inst, RNA Biol & Therapies Grp, Neurogenet, Neurosci Area, San Sebastian 20014, Spain McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ H3A 2B4, Canada Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, Spainde Munain, Adolfo Lopez论文数: 0 引用数: 0 h-index: 0机构: Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, Spain Spanish Natl Hlth Inst Carlos iii, Carlos Hlth Inst 3, CiberNed, Av Monforte de Lemos 3-5, Madrid 28029, Spain Hosp Univ Donostia, Osakidetza, Dept Neurol, E-20014 San Sebastian, Guipuzcoa, Spain Univ Basque Country UPV EHU, Dept Neurosci, San Sebastian 20014, Spain Univ Deusto, Fac Med, Bilbao 48007, Spain Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, Neurosci Area, San Sebastian 20014, SpainSaenz, Amets论文数: 0 引用数: 0 h-index: 0机构: Biogipuzkoa Hlth Res Inst, Neuromuscular Dis Grp, 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