共 50 条
- [21] Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 casesMUSCLE & NERVE, 2018, 57 (05) : E124 - E126Dhawan, Priya S.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Rochester, MN 55905 USALiewluck, Teerin论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Rochester, MN 55905 USAKnapik, Joseph论文数: 0 引用数: 0 h-index: 0机构: St Marys Reg Med Ctr, Dept Neurol & Rehabil, Enid, OK USA Mayo Clin, Dept Neurol, Rochester, MN 55905 USAMilone, Margherita论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Rochester, MN 55905 USA
- [22] Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganizationNEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2011, 37 (03) : 271 - 284Bevilacqua, J. A.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, France Univ Chile, Fac Med, Inst Ciencias Biomed, Santiago 7, Chile Univ Chile, HCUCH, Dept Neurol & Neurocirugia, Santiago 7, Chile Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceMonnier, N.论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble, Lab Biochim & Genet Mol, F-38043 Grenoble, France CHU Grenoble, Ctr Reference Malad Neuromusculaires, F-38043 Grenoble, France Grenoble Inst Neurosci, INSERM, U836, La Tronche, France Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceBitoun, M.论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, CNRS, UPMC, INSERM,UMR S974,UMR 7215, Paris, France Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceEymard, B.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Univ Pitie Salpetriere, AP HP, Ctr Reference Malad Neuromusc Paris Est, F-75013 Paris, France Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceFerreiro, A.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Univ Pitie Salpetriere, AP HP, Ctr Reference Malad Neuromusc Paris Est, F-75013 Paris, France CHU Pitie Salpetriere, INSERM, UMR S787, Paris, France Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceMonges, S.论文数: 0 引用数: 0 h-index: 0机构: Garrahan Natl Paediat Hosp, Dept Neuropaediat, Buenos Aires, DF, Argentina Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceLubieniecki, F.论文数: 0 引用数: 0 h-index: 0机构: Garrahan Natl Paediat Hosp, Dept Pathol, Buenos Aires, DF, Argentina Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceTaratuto, A. L.论文数: 0 引用数: 0 h-index: 0机构: FLENI Inst Neurol Res, Dept Neuropathol, Buenos Aires, DF, Argentina Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceLaquerriere, A.论文数: 0 引用数: 0 h-index: 0机构: Rouen Univ Hosp, Pathol Lab, Rouen, France Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceClaeys, K. G.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, France Grp Hosp Univ Pitie Salpetriere, AP HP, Ctr Reference Malad Neuromusc Paris Est, F-75013 Paris, France Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceMarty, I.论文数: 0 引用数: 0 h-index: 0机构: Grenoble Inst Neurosci, INSERM, U836, La Tronche, France Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceFardeau, M.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, France Grp Hosp Univ Pitie Salpetriere, AP HP, Ctr Reference Malad Neuromusc Paris Est, F-75013 Paris, France Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceGuicheney, P.论文数: 0 引用数: 0 h-index: 0机构: CHU Pitie Salpetriere, INSERM, UMR S956, Paris, France Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceLunardi, J.论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble, Lab Biochim & Genet Mol, F-38043 Grenoble, France CHU Grenoble, Ctr Reference Malad Neuromusculaires, F-38043 Grenoble, France Grenoble Inst Neurosci, INSERM, U836, La Tronche, France Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, FranceRomero, N. B.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, France GHU Pitie Salpetriere, CNRS, UPMC, INSERM,UMR S974,UMR 7215, Paris, France Grp Hosp Univ Pitie Salpetriere, AP HP, Ctr Reference Malad Neuromusc Paris Est, F-75013 Paris, France Grp Hosp Univ Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, France
- [23] Myofibrillar myopathy caused by novel dominant negative αB-crystallin mutationsANNALS OF NEUROLOGY, 2003, 54 (06) : 804 - 810Selcen, D论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Rochester, MN 55905 USAEngel, AG论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN 55905 USA
- [24] Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutationsAUTOPHAGY, 2013, 9 (03) : 422 - 423Kley, Rudolf A.论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Neurol, Neuromuscular Ctr Ruhrgebiet, Univ Hosp Bergmannsheil, Bochum, Germany Ruhr Univ Bochum, Dept Neurol, Neuromuscular Ctr Ruhrgebiet, Univ Hosp Bergmannsheil, Bochum, Germanyvan der Ven, Peter F. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Cell Biol, Bonn, Germany Ruhr Univ Bochum, Dept Neurol, Neuromuscular Ctr Ruhrgebiet, Univ Hosp Bergmannsheil, Bochum, GermanyOlive, Montse论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Bellvitge, Inst Neuropathol, Dept Pathol, Neuromuscular Unit,Dept Neurol,IDIBELL, Barcelona, Spain Hosp Llobregat, CIBERNED, Barcelona, Spain Ruhr Univ Bochum, Dept Neurol, Neuromuscular Ctr Ruhrgebiet, Univ Hosp Bergmannsheil, Bochum, GermanyHoehfeld, Joerg论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Cell Biol, Bonn, Germany Ruhr Univ Bochum, Dept Neurol, Neuromuscular Ctr Ruhrgebiet, Univ Hosp Bergmannsheil, Bochum, GermanyGoldfarb, Lev G.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD 20892 USA Ruhr Univ Bochum, Dept Neurol, Neuromuscular Ctr Ruhrgebiet, Univ Hosp Bergmannsheil, Bochum, GermanyFuerst, Dieter O.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Cell Biol, Bonn, Germany Ruhr Univ Bochum, Dept Neurol, Neuromuscular Ctr Ruhrgebiet, Univ Hosp Bergmannsheil, Bochum, GermanyVorgerd, Matthias论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Neurol, Neuromuscular Ctr Ruhrgebiet, Univ Hosp Bergmannsheil, Bochum, Germany Ruhr Univ Bochum, Dept Neurol, Neuromuscular Ctr Ruhrgebiet, Univ Hosp Bergmannsheil, Bochum, Germany
- [25] Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French CohortGENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 22 (06) : 374 - 383de Siqueira Carvalho, Alzira Alves论文数: 0 引用数: 0 h-index: 0机构: Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, Brazil Grp Hosp Pitie Salpetriere, Lab Pathol Musculaire Risler, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilLacene, Emmanuele论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Lab Pathol Musculaire Risler, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilBrochier, Guy论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Lab Pathol Musculaire Risler, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilLabasse, Clemance论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Lab Pathol Musculaire Risler, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilMadelaine, Angeline论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Lab Pathol Musculaire Risler, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, Brazilda Silva, Vinicius Gomes论文数: 0 引用数: 0 h-index: 0机构: Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Santo Andre, Brazil Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilCorazzini, Roseli论文数: 0 引用数: 0 h-index: 0机构: Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Santo Andre, Brazil Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilPapadopoulos, Konstantinos论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilBehin, Anthony论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilLaforet, Pascal论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilStojkovic, Tania论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilEymard, Bruno论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilFardeau, Michel论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Lab Pathol Musculaire Risler, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, BrazilRomero, Norma论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Lab Pathol Musculaire Risler, Paris, France Fac Med ABC, Dept Neurociencias, Lab Doencas Neuromusculares, Ave Principe Gales 821, BR-09060650 Santo Andre, Brazil
- [26] Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failureJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2014, 85 (03): : 331 - 338Pfeffer, Gerald论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBarresi, Rita论文数: 0 引用数: 0 h-index: 0机构: NCST Diagnost & Advisory Serv Rare Neuromuscular, Muscle Immunoanal Unit, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandWilson, Ian J.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHardy, Steven A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, 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, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHudson, Judith论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandElliott, Hannah R.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandRamesh, Aravind V.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandRadunovic, Aleksandar论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, London E1 1BB, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandWiner, John B.论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Hosp, Birmingham B15 2TH, W Midlands, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandVaidya, Sujit论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, London E1 1BB, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandRaman, Ashok论文数: 0 引用数: 0 h-index: 0机构: Hull Royal Infirm, Kingston Upon Hull HU3 2JZ, N Humberside, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBusby, Mark论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds, W Yorkshire, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandFarrugia, Maria E.论文数: 0 引用数: 0 h-index: 0机构: So Gen Hosp, Inst Neurol Sci, Glasgow G51 4TF, Lanark, Scotland Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMing, Alec论文数: 0 引用数: 0 h-index: 0机构: Hull Royal Infirm, Kingston Upon Hull HU3 2JZ, N Humberside, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandEverett, Chris论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, London E1 1BB, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandEmsley, Hedley C. A.论文数: 0 引用数: 0 h-index: 0机构: Royal Preston Hosp, Dept Neurol, Preston, Lancs, England Newcastle Univ, Inst Med Genet, Int Ctr Life, 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, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, 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, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, 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, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, 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, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, 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, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSarkozy, Anna论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
- [27] Novel FHL1 mutations in fatal and benign reducing body myopathy, rigid spine and myofibrillar myopathyJOURNAL OF NEUROLOGY, 2010, 257 : S168 - S169Shalaby, S.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Med Univ, Cairo, EgyptQuinzii, C. M.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Med Univ, Cairo, EgyptHayashi, Y. K.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Med Univ, Cairo, EgyptGoto, K.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Med Univ, Cairo, EgyptNonaka, I.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Med Univ, Cairo, EgyptNoguchi, S.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Med Univ, Cairo, EgyptHirano, M.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Med Univ, Cairo, EgyptNishino, I.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Med Univ, Cairo, Egypt
- [28] Dominant collagen XII mutations cause a distal myopathyANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2019, 6 (10): : 1980 - 1988Mohassel, Payam论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USALiewluck, Teerin论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAHu, Ying论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAEzzo, Daniel论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAOgata, Tracy论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USASaade, Dimah论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USANeuhaus, Sarah论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USABolduc, Veronique论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAZou, Yaqun论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USADonkervoort, Sandra论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAMedne, Livija论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Div Human Genet, Philadelphia, PA 19104 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USASumner, Charlotte J.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USADyck, P. James B.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAWierenga, Klaas J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Jacksonville, FL 32224 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USATennekoon, Gihan论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAFinkel, Richard S.论文数: 0 引用数: 0 h-index: 0机构: Nemours Children Hlth Syst, Dept Pediat, Orlando, FL USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAChen, Jiani论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genom Diagnost, Philadelphia, PA 19104 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAWinder, Thomas L.论文数: 0 引用数: 0 h-index: 0机构: Invitae Corp, San Francisco, CA USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAStaff, Nathan P.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAFoley, A. Reghan论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USAKoch, Manuel论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Ctr Biochem, Med Fac, Inst Dent Res & Oral Musculoskeletal Biol, Cologne, Germany NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USABonnemann, Carsten G.论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA NINDS, NIH, NNDCS, 35 Convent Dr,Bldg 35,2A116, Bethesda, MD 20892 USA
- [29] NOVEL DOMINANT POLG MUTATIONS CAUSE DISTAL MYOPATHYJOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S119 - S119Pitceathly, R. D. S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Cen Neur Dis, London, England UCL Inst Neurol, MRC Cen Neur Dis, London, EnglandTomlinson, S. E.论文数: 0 引用数: 0 h-index: 0机构: Uni Syd, Syd Med Scho, Sydney, NSW, Australia UCL Inst Neurol, MRC Cen Neur Dis, London, EnglandHargreaves, I论文数: 0 引用数: 0 h-index: 0机构: Nat Hosp Neur Neurosurg, Neuromet Unit, London, England UCL Inst Neurol, MRC Cen Neur Dis, London, EnglandBhardwaj, N.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Chil Heal, Dub Neuro Ctr, London, England UCL Inst Neurol, MRC Cen Neur Dis, London, EnglandHolton, J. L.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Cen Neur Dis, London, England UCL Inst Neurol, MRC Cen Neur Dis, London, EnglandEvans, J.论文数: 0 引用数: 0 h-index: 0机构: Oxf Rad Hosp, Oxf Reg Molec Gen Lab, Oxford, England UCL Inst Neurol, MRC Cen Neur Dis, London, EnglandSmith, C.论文数: 0 引用数: 0 h-index: 0机构: Oxf Rad Hosp, Oxf Reg Molec Gen Lab, Oxford, England UCL Inst Neurol, MRC Cen Neur Dis, London, EnglandFratter, C.论文数: 0 引用数: 0 h-index: 0机构: Oxf Rad Hosp, Oxf Reg Molec Gen Lab, Oxford, England UCL Inst Neurol, MRC Cen Neur Dis, London, EnglandWoodward, C.论文数: 0 引用数: 0 h-index: 0机构: Nat Hosp Neur Neurosur, Neurogen Unit, London, England UCL Inst Neurol, MRC Cen Neur Dis, London, EnglandSweeney, M. G.论文数: 0 引用数: 0 h-index: 0机构: Nat Hosp Neur Neurosur, Neurogen Unit, London, England UCL Inst Neurol, MRC Cen Neur Dis, London, EnglandHanna, M. G.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Cen Neur Dis, London, England UCL Inst Neurol, MRC Cen Neur Dis, London, EnglandRahman, S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Chil Heal, Mito Res Grp, London, England UCL Inst Neurol, MRC Cen Neur Dis, London, England
- [30] Mutations in dynamin 2 cause dominant centronuclear myopathyNATURE GENETICS, 2005, 37 (11) : 1207 - 1209Bitoun, M论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceMaugenre, S论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceJeannet, PY论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceLacène, E论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceFerrer, X论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceLaforêt, P论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceMartin, JJ论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceLaporte, J论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceLochmüller, H论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceBeggs, AH论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceFardeau, M论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceEymard, B论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceRomero, NB论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, FranceGuicheney, P论文数: 0 引用数: 0 h-index: 0机构: UPMC, Grp Hosp Pitie Salpetriere, IFR14, Inst Myol,INSERM,U582, F-75651 Paris, France