EFNS guideline on diagnosis and management of limb girdle muscular dystrophies
暂无分享,去创建一个
K. Bushby | Hanns Lochmüller | B. Eymard | F. Norwood | M. de Visser | H Lochmüller | B Eymard | M de Visser | F Norwood | K Bushby
[1] C. Angelini,et al. Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? , 2004, Human mutation.
[2] I. Richard,et al. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J , 2005, Neurology.
[3] C. Angelini,et al. Calpain-3 and dysferlin protein screening in patients with limb–girdle dystrophy and myopathy , 2001, Neurology.
[4] C. Greenberg,et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. , 2002, American journal of human genetics.
[5] Hanns Lochmüller,et al. Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical study , 2000, Neurology.
[6] M. Brainin,et al. Guidance for the preparation of neurological management guidelines by EFNS scientific task forces – revised recommendations 2004 * , 2004, European journal of neurology.
[7] K. Bushby,et al. Limb‐girdle muscular dystrophies – from genetics to molecular pathology , 2004, Neuropathology and applied neurobiology.
[8] Susan C. Brown,et al. Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies , 2004 .
[9] E. Hoffman,et al. Homozygous α‐sarcoglycan mutation in two siblings: One asymptomatic and one steroid‐responsive mild limb–girdle muscular dystrophy patient , 1998, Muscle & nerve.
[10] L. Anderson,et al. Multiplex Western blotting system for the analysis of muscular dystrophy proteins. , 1999, The American journal of pathology.
[11] S. Woodman,et al. Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. , 2004, Neurology.
[12] J. Bourke,et al. 107th ENMC International Workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th–9th June 2002, Naarden, the Netherlands , 2003, Neuromuscular Disorders.
[13] C. Angelini,et al. Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes , 2005, Journal of Medical Genetics.
[14] K. Campbell,et al. Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. , 1997, Neurology.
[15] M. Eagle. Report on the Muscular Dystrophy Campaign workshop: Exercise in neuromuscular diseases Newcastle, January 2002 , 2002, Neuromuscular Disorders.
[16] K. Bushby,et al. The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach , 2001, Neuromuscular Disorders.
[17] I. Illa,et al. A novel, blood‐based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy , 2002, Annals of neurology.
[18] Francesco Muntoni,et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures , 2005, Neuromuscular Disorders.
[19] H. Crijns,et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? , 2004, Journal of Molecular Medicine.
[20] S. Pandya,et al. Practice Parameter: Corticosteroid treatment of Duchenne dystrophy , 2005, Neurology.
[21] J. Emparanza,et al. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. , 2005, Brain : a journal of neurology.
[22] J. Bourke,et al. The phenotype of limb-girdle muscular dystrophy type 2I , 2003, Neurology.
[23] J. Beckmann,et al. The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002 , 2003, Neuromuscular Disorders.
[24] F. J. Nattrass,et al. On the classification, natural history and treatment of the myopathies. , 1954, Brain : a journal of neurology.
[25] K. Bushby,et al. Making sense of the limb-girdle muscular dystrophies. , 1999, Brain : a journal of neurology.
[26] J. Beckmann,et al. 66th/67th ENMC Sponsored International Workshop: The Limb-Girdle Muscular Dystrophies 26–28 March 1999, Naarden, The Netherlands , 1999, Neuromuscular Disorders.
[27] A. Pestronk,et al. Primary α‐sarcoglycan deficiency responsive to immunosuppression over three years , 1998 .