229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
暂无分享,去创建一个
Bjarne Udd | Ségolène Aymé | Ada Hamosh | Vincenzo Nigro | Volker Straub | A. Hamosh | S. Aymé | J. Vissing | V. Straub | B. Udd | N. Khizanishvili | A. Murphy | M. de Visser | V. Nigro | A. Sarkozy | John Vissing | Anna Sarkozy | Marianne de Visser | Alexander Murphy | Angelini Corrado | Carsten Bönneman | Laura Jacobs | Nina Khizanishvili | Madelon Kroneman | Pascal Laflorêt | Alex Murphy | Laura Rufibach | Shaun Swanepoel | Ivan Torrente | Andoni Urtizberea | Maggie Walter | M. Kroneman | A. Urtizberea | M. Walter | A. Corrado | C. Bönneman | Laura Jacobs | Pascal Laflorêt | L. Rufibach | Shaun Swanepoel | Ivan Torrente
[1] J. Amberger,et al. Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes , 2017, Current protocols in bioinformatics.
[2] Tudor Groza,et al. The Human Phenotype Ontology in 2017 , 2016, Nucleic Acids Res..
[3] G. Pita,et al. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss , 2016, EMBO molecular medicine.
[4] J. Vissing. Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. , 2016, Current opinion in neurology.
[5] B. Udd,et al. Increasing Role of Titin Mutations in Neuromuscular Disorders , 2016, Journal of neuromuscular diseases.
[6] Hanns Lochmüller,et al. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. , 2016, Brain : a journal of neurology.
[7] G. Comi,et al. The genetic basis of undiagnosed muscular dystrophies and myopathies , 2016, Neurology.
[8] Rachel Thompson,et al. Limb-girdle muscular dystrophies — international collaborations for translational research , 2016, Nature Reviews Neurology.
[9] I. Nonaka,et al. Milder forms of muscular dystrophy associated with POMGNT2 mutations , 2015, Neurology: Genetics.
[10] J. Vallat,et al. Too many numbers and complexity: time to update the classifications of neurogenetic disorders? , 2015, Journal of Medical Genetics.
[11] J. Vallat,et al. Charcot–Marie–Tooth diseases: an update and some new proposals for the classification , 2015, Journal of Medical Genetics.
[12] V. Straub,et al. The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies , 2015, Journal of neuromuscular diseases.
[13] K. Campbell,et al. Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane , 2015, Glycobiology.
[14] Ana Rath,et al. Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding , 2015, Orphanet Journal of Rare Diseases.
[15] T. Endo. Glycobiology of α-dystroglycan and muscular dystrophy. , 2015, Journal of biochemistry.
[16] V. Nigro,et al. Genetic basis of limb-girdle muscular dystrophies: the 2014 update , 2014, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.
[17] M. Shy,et al. Inherited peripheral neuropathies. , 2013, Neurologic clinics.
[18] H. Houlden,et al. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing , 2012, Journal of Neurology, Neurosurgery & Psychiatry.
[19] Carol A. Bocchini,et al. A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®) , 2011, Human mutation.
[20] M. Shy,et al. Charcot‐marie‐tooth disease subtypes and genetic testing strategies , 2011, Annals of neurology.
[21] K. Bushby,et al. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. , 2011, Brain : a journal of neurology.
[22] K. Bushby,et al. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. , 2009, Brain : a journal of neurology.
[23] M. Schwartz,et al. High prevalence and phenotype–genotype correlations of limb girdle muscular dystrophy type 2I in Denmark , 2006, Annals of neurology.
[24] J. Beckmann,et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B , 1998, Nature Genetics.
[25] E. Hoffman,et al. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. , 1997, Journal of medical genetics.
[26] J. Beckmann,et al. A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey , 1997, Annals of neurology.
[27] J. Beckmann,et al. 30th and 31st ENMC international workshops, Naarden, The Netherlands, Held 6–8 January 1995 , 1995, Neuromuscular Disorders.
[28] P K Thomas,et al. Autosomal recessive forms of hereditary motor and sensory neuropathy. , 1980, Journal of neurology, neurosurgery, and psychiatry.
[29] P. Dyck. Peripheral neuropathy. Changing concepts, differential diagnosis and classification. , 1968, The Medical clinics of North America.
[30] F. J. Nattrass,et al. On the classification, natural history and treatment of the myopathies. , 1954, Brain : a journal of neurology.