Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis
暂无分享,去创建一个
Sonja W. Scholz | Janel O. Johnson | A. Chiò | G. Mora | B. Traynor | M. Benatar | J. Taylor | A. Calvo | J. Mandrioli | G. Restagno | M. Brunetti | Yevgeniya A. Abramzon | J. Taylor | J. Taylor
[1] C. Drögemüller,et al. A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs , 2012, BMC Genetics.
[2] Janel O. Johnson,et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study , 2012, The Lancet Neurology.
[3] D. Stephan,et al. FUS mutations in sporadic amyotrophic lateral sclerosis , 2011, Neurobiology of Aging.
[4] A. Chiò,et al. A de novo missense mutation of the FUS gene in a “true” sporadic ALS case , 2011, Neurobiology of Aging.
[5] Sonja W. Scholz,et al. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS , 2010, Neuron.
[6] I. Mackenzie,et al. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia , 2010, The Lancet Neurology.
[7] Z. Wszolek,et al. De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis , 2010, Human mutation.
[8] A. Chiò,et al. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation , 2009, Neurobiology of Aging.
[9] A. Pestronk,et al. Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia , 2009, Neuromuscular Disorders.
[10] N. Bresolin,et al. Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation , 2009, Neurobiology of Aging.
[11] V. Kimonis,et al. VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. , 2008, Biochimica et biophysica acta.
[12] A. Singleton,et al. TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis , 2008, PloS one.
[13] B. McConkey,et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis , 2008, Nature Genetics.
[14] S. DeKosky,et al. Frontotemporal dementia associated with a Valosin‐Containing Protein mutation: report of three families , 2008 .
[15] A. Chiò,et al. Prevalence of SOD1 mutations in the Italian ALS population , 2008, Neurology.
[16] D. Drachman,et al. Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia , 2007, Clinical genetics.
[17] A. Pestronk,et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein , 2004, Nature Genetics.
[18] Laura Scott,et al. Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome , 2003, Nature.
[19] Orla Hardiman,et al. “True” sporadic ALS associated with a novel SOD‐1 mutation , 2002, Annals of neurology.
[20] Jonathan Scott Friedlaender,et al. A Human Genome Diversity Cell Line Panel , 2002, Science.
[21] Ronald C. Petersen,et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 , 1998, Nature.
[22] B. Brooks,et al. El escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis , 1994, Journal of the Neurological Sciences.
[23] Mulder Dw. Clinical limits of amyotrophic lateral sclerosis. , 1982 .