메뉴 건너뛰기




Volumn 28, Issue 8, 2018, Pages 702-710

229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; CALPAIN 3;

EID: 85050392528     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2018.05.007     Document Type: Conference Paper
Times cited : (256)

References (30)
  • 1
    • 0000042975 scopus 로고
    • On the classification, natural history and treatment of the myopathies
    • Walton, JN, Nattrass, FJ, On the classification, natural history and treatment of the myopathies. Brain 77 (1954), 169–231.
    • (1954) Brain , vol.77 , pp. 169-231
    • Walton, J.N.1    Nattrass, F.J.2
  • 2
    • 0029334512 scopus 로고
    • The limb-girdle muscular dystrophies – proposal for a new nomenclature
    • Bushby, KM, Beckmann, JS, The limb-girdle muscular dystrophies – proposal for a new nomenclature. Neuromuscul Disord 5 (1995), 337–343.
    • (1995) Neuromuscul Disord , vol.5 , pp. 337-343
    • Bushby, K.M.1    Beckmann, J.S.2
  • 3
    • 84900524773 scopus 로고    scopus 로고
    • Genetic basis of limb-girdle muscular dystrophies: the 2014 update
    • Nigro, V, Savarese, M, Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 33 (2014), 1–12.
    • (2014) Acta Myol , vol.33 , pp. 1-12
    • Nigro, V.1    Savarese, M.2
  • 4
    • 84990981830 scopus 로고    scopus 로고
    • A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
    • Servián-Morilla, E, Takeuchi, H, Lee, TV, Clarimon, J, Mavillard, F, Area-Gómez, E, et al. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med 8 (2016), 1289–1309.
    • (2016) EMBO Mol Med , vol.8 , pp. 1289-1309
    • Servián-Morilla, E.1    Takeuchi, H.2    Lee, T.V.3    Clarimon, J.4    Mavillard, F.5    Area-Gómez, E.6
  • 5
    • 84962639586 scopus 로고    scopus 로고
    • The classification, natural history and treatment of the limb girdle muscular dystrophies
    • Murphy, AP, Straub, V, The classification, natural history and treatment of the limb girdle muscular dystrophies. J Neuromuscul Dis 2 (2015), S7–s19.
    • (2015) J Neuromuscul Dis , vol.2 , pp. S7-s19
    • Murphy, A.P.1    Straub, V.2
  • 6
    • 84962054136 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophies – international collaborations for translational research
    • Thompson, R, Straub, V, Limb-girdle muscular dystrophies – international collaborations for translational research. Nat Rev Neurol 12:5 (2016), 294–309.
    • (2016) Nat Rev Neurol , vol.12 , Issue.5 , pp. 294-309
    • Thompson, R.1    Straub, V.2
  • 8
    • 84941114402 scopus 로고    scopus 로고
    • Glycobiology of α-dystroglycan and muscular dystrophy
    • Endo, T, Glycobiology of α-dystroglycan and muscular dystrophy. J Biochem 157 (2015), 1–12.
    • (2015) J Biochem , vol.157 , pp. 1-12
    • Endo, T.1
  • 9
    • 84936755861 scopus 로고    scopus 로고
    • Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane
    • Yoshida-Moriguchi, T, Campbell, KP, Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane. Glycobiology 25 (2015), 702–713.
    • (2015) Glycobiology , vol.25 , pp. 702-713
    • Yoshida-Moriguchi, T.1    Campbell, K.P.2
  • 10
    • 70350690312 scopus 로고    scopus 로고
    • Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
    • Norwood, FLM, Harling, C, Chinnery, PF, Eagle, M, Bushby, K, Straub, V, Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 132:Pt 11 (2009), 3175–3186.
    • (2009) Brain , vol.132 , pp. 3175-3186
    • Norwood, F.L.M.1    Harling, C.2    Chinnery, P.F.3    Eagle, M.4    Bushby, K.5    Straub, V.6
  • 11
    • 84982958280 scopus 로고    scopus 로고
    • A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
    • Vissing, J, Barresi, R, Witting, N, Van Ghelue M, GammelgaardL, Bindoff, LA, et al. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain 139 (2016), 2154–2163.
    • (2016) Brain , vol.139 , pp. 2154-2163
    • Vissing, J.1    Barresi, R.2    Witting, N.3    Van Ghelue M, G.4    Bindoff, L.A.5
  • 12
    • 78650687723 scopus 로고    scopus 로고
    • A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy
    • Hicks, D, Sarkozy, A, Muelas, N, Köehler, K, Huebner, A, Hudson, G, et al. A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy. Brain 134 (2011), 171–182.
    • (2011) Brain , vol.134 , pp. 171-182
    • Hicks, D.1    Sarkozy, A.2    Muelas, N.3    Köehler, K.4    Huebner, A.5    Hudson, G.6
  • 13
    • 17344363640 scopus 로고    scopus 로고
    • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    • Bashir, R, Britton, S, Strachan, T, Keers, S, Vafiadaki, E, Lako, M, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet, 20, 1998.
    • (1998) Nat Genet , vol.20
    • Bashir, R.1    Britton, S.2    Strachan, T.3    Keers, S.4    Vafiadaki, E.5    Lako, M.6
  • 14
    • 15444348850 scopus 로고    scopus 로고
    • A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
    • Dincer, P, Leturcq, F, Richard, I, Piccolo, F, Yalnizoglu, D, de Toma, C, et al. A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Ann Neurol 42 (1997), 222–229.
    • (1997) Ann Neurol , vol.42 , pp. 222-229
    • Dincer, P.1    Leturcq, F.2    Richard, I.3    Piccolo, F.4    Yalnizoglu, D.5    de Toma, C.6
  • 16
    • 85029433513 scopus 로고    scopus 로고
    • Searching Online mendelian inheritance in man (OMIM): a knowledgebase of human genes and genetic phenotypes
    • Amberger, JS, Hamosh, A, Searching Online mendelian inheritance in man (OMIM): a knowledgebase of human genes and genetic phenotypes. Curr Protoc Bioinformatics 58 (2017), 1.2.1–1.2.12.
    • (2017) Curr Protoc Bioinformatics , vol.58 , pp. 1.2.1-1.2.12
    • Amberger, J.S.1    Hamosh, A.2
  • 18
    • 84926462524 scopus 로고    scopus 로고
    • Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding
    • Aymé, S, Bellet, B, Rath, A, Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding. Orphanet J Rare Dis, 10, 2015, 35.
    • (2015) Orphanet J Rare Dis , vol.10 , pp. 35
    • Aymé, S.1    Bellet, B.2    Rath, A.3
  • 19
    • 79954986866 scopus 로고    scopus 로고
    • A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
    • Amberger, J, Bocchini, C, Hamosh, A, A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). Hum Mut 32 (2011), 564–567.
    • (2011) Hum Mut , vol.32 , pp. 564-567
    • Amberger, J.1    Bocchini, C.2    Hamosh, A.3
  • 20
    • 0014312454 scopus 로고
    • Peripheral neuropathy. Changing concepts, differential diagnosis and classification
    • Dyck, PJ, Peripheral neuropathy. Changing concepts, differential diagnosis and classification. Med Clin North Am 52 (1968), 895–908.
    • (1968) Med Clin North Am , vol.52 , pp. 895-908
    • Dyck, P.J.1
  • 21
    • 0018817642 scopus 로고
    • Autosomal recessive forms of hereditary motor and sensory neuropathy
    • Harding, AE, Thomas, PK, Autosomal recessive forms of hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 43 (1980), 669–678.
    • (1980) J Neurol Neurosurg Psychiatry , vol.43 , pp. 669-678
    • Harding, A.E.1    Thomas, P.K.2
  • 23
    • 84861908529 scopus 로고    scopus 로고
    • Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
    • Murphy, SM, Laura, M, Fawcett, K, Pandraud, A, Liu, YT, Davidson, GL, et al. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 83:7 (2012), 706–710.
    • (2012) J Neurol Neurosurg Psychiatry , vol.83 , Issue.7 , pp. 706-710
    • Murphy, S.M.1    Laura, M.2    Fawcett, K.3    Pandraud, A.4    Liu, Y.T.5    Davidson, G.L.6
  • 24
    • 84877130911 scopus 로고    scopus 로고
    • Inherited peripheral neuropathies
    • Saporta, MA, Shy, ME, Inherited peripheral neuropathies. Neurol Clin 31:2 (2013), 597–619.
    • (2013) Neurol Clin , vol.31 , Issue.2 , pp. 597-619
    • Saporta, M.A.1    Shy, M.E.2
  • 25
    • 84982740419 scopus 로고    scopus 로고
    • Too many numbers and complexity: time to update the classifications of neurogenetic disorders?
    • Vallat, J-M, Goizet, C, Magy, L, Mathis, S, Too many numbers and complexity: time to update the classifications of neurogenetic disorders?. J Med Genet 53:10 (2016), 647–650.
    • (2016) J Med Genet , vol.53 , Issue.10 , pp. 647-650
    • Vallat, J.-M.1    Goizet, C.2    Magy, L.3    Mathis, S.4
  • 26
    • 84945464899 scopus 로고    scopus 로고
    • Charcot–Marie–Tooth diseases: an update and some new proposals for the classification
    • Mathis, S, Goizet, C, Tazir, M, Magdelaine, C, Lia, AS, Magy, L, et al. Charcot–Marie–Tooth diseases: an update and some new proposals for the classification. J Med Genet 52:10 (2015), 681–690.
    • (2015) J Med Genet , vol.52 , Issue.10 , pp. 681-690
    • Mathis, S.1    Goizet, C.2    Tazir, M.3    Magdelaine, C.4    Lia, A.S.5    Magy, L.6
  • 27
    • 84982859364 scopus 로고    scopus 로고
    • Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies
    • Vissing, J., Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. Curr Opin Neurol 29:5 (2016), 635–641.
    • (2016) Curr Opin Neurol , vol.29 , Issue.5 , pp. 635-641
    • Vissing, J.1
  • 28
    • 33646353390 scopus 로고    scopus 로고
    • High prevalence and phenotype–genotype correlations of limb girdle muscular dystrophy type 2I in Denmark
    • Sveen, M-L, Schwartz, M, Vissing, J, High prevalence and phenotype–genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol 59 (2006), 808–815.
    • (2006) Ann Neurol , vol.59 , pp. 808-815
    • Sveen, M.-L.1    Schwartz, M.2    Vissing, J.3
  • 29
    • 84977469403 scopus 로고    scopus 로고
    • The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients
    • Savarese, M, Di Fruscio, G, Torella, A, Fiorillo, C, Magri, F, Fanin, M, et al. The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients. Neurology 87 (2016), 71–76.
    • (2016) Neurology , vol.87 , pp. 71-76
    • Savarese, M.1    Di Fruscio, G.2    Torella, A.3    Fiorillo, C.4    Magri, F.5    Fanin, M.6
  • 30
    • 85029133682 scopus 로고    scopus 로고
    • Milder forms of muscular dystrophy associated with POMGNT2 mutations
    • Endo, Y, Dong, M, Noguchi, S, et al. Milder forms of muscular dystrophy associated with POMGNT2 mutations. Neurol Genet, 1(4), 2015, e33.
    • (2015) Neurol Genet , vol.1 , Issue.4 , pp. e33
    • Endo, Y.1    Dong, M.2    Noguchi, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.