Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
暂无分享,去创建一个
F. Marrosu | A. Chiò | G. Mora | B. Traynor | F. Salvi | G. Logroscino | G. Tedeschi | A. Calvo | A. Quattrone | F. Pisano | A. Renton | E. Majounie | G. Mancardi | A. Gambardella | M. Sendtner | F. Conforti | M. Pugliatti | M. Sotgiu | P. Mandich | R. Spataro | V. La Bella | I. Simone | F. Giannini | J. Mandrioli | M. Corbo | G. Restagno | S. Battistini | C. Caponnetto | M. Monsurrò | K. Marinou | M. Sabatelli | A. Conte | P. Sola | I. Bartolomei | P. Volanti | S. Penco | C. Lunetta | C. Drepper | M. Brunetti | M. Zollino | M. Marrosu | G. Borghero | M. R. Murru | I. Ossola | Giuseppe Lauria Pinter | G. Lauria Pinter | Yevgeniya A. Abramzon | Kalliopi Marinou
[1] P. Andersen,et al. EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force , 2012, European journal of neurology.
[2] M. Nalls,et al. The chromosome 9 ALS and FTD locus is probably derived from a single founder , 2012, Neurobiology of Aging.
[3] A. Ludolph,et al. Amyotrophic lateral sclerosis. , 2012, Current opinion in neurology.
[4] David Heckerman,et al. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD , 2011, Neuron.
[5] Bruce L. Miller,et al. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS , 2011, Neuron.
[6] L. H. van den Berg,et al. Family history of neurodegenerative and vascular diseases in ALS , 2011, Neurology.
[7] Janel O. Johnson,et al. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. , 2011, Archives of neurology.
[8] O. Hardiman,et al. Proposed criteria for familial amyotrophic lateral sclerosis , 2011, Amyotrophic Lateral Sclerosis.
[9] A. Chiò,et al. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study , 2011, Journal of Neurology, Neurosurgery & Psychiatry.
[10] O. Hardiman,et al. Amyotrophic lateral sclerosis , 2011, The Lancet.
[11] Patrizia Sola,et al. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS , 2011, Neuron.
[12] A. Reiner,et al. Genetics and neuropathology of Huntington's disease. , 2011, International review of neurobiology.
[13] D. Hernandez,et al. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p , 2011, Journal of Neurology.
[14] G. Comi,et al. TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course. , 2010, Rejuvenation research.
[15] David Heckerman,et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study , 2010, The Lancet Neurology.
[16] A. Chiò,et al. Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. , 2010, Archives of neurology.
[17] B. Boeve,et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family , 2010, Journal of Neurology, Neurosurgery & Psychiatry.
[18] E. Beghi,et al. Incidence of amyotrophic lateral sclerosis in Europe , 2009, Journal of Neurology, Neurosurgery & Psychiatry.
[19] John L. Robinson,et al. Clinical and pathological continuum of multisystem TDP-43 proteinopathies. , 2009, Archives of neurology.
[20] M. Freedman,et al. Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis , 2009, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.
[21] O. Hardiman,et al. Aggregation of neurodegenerative disease in ALS kindreds , 2009, Amyotrophic Lateral Sclerosis.
[22] A. Grace,et al. Limbic and cortical information processing in the nucleus accumbens , 2008, Trends in Neurosciences.
[23] A. Chiò,et al. Prevalence of SOD1 mutations in the Italian ALS population , 2008, Neurology.
[24] H. Horvitz,et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia , 2006, Neurology.
[25] D. Hilton‐Jones,et al. Clinical and molecular aspects of the myotonic dystrophies: A review , 2005, Muscle & nerve.