High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients-Reference-Cited by-同舟云学术

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High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients

Published:2012-08 Issue:8 Volume:33 Page:1851.e1-1851.e5
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Mok Kin Y.,Koutsis Georgios,Schottlaender Lucia V.,Polke James,Panas Marios,Houlden Henry

Funder

The Medical Research Council (MRC)

The Wellcome Trust

National Organization for Rare Disorders (NORD)

The Brain Research Trust (BRT)

National Institute for Health Research (NIHR)

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Neurology (clinical),Aging,General Neuroscience

Reference32 articles.

1. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS;Al-Sarraj;Acta Neuropathol,2011

2. The epidemiology and treatment of ALS: focus on the heterogeneity of the disease and critical appraisal of therapeutic trials;Beghi;Amyotroph. Lateral Scler,2011

3. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis;Brooks;Amyotroph. Lateral Scler. Other Mot. Neuron Disord,2000

4. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene;Chiò;Arch. Neurol,2011

5. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS;Chow;Am. J. Hum. Genet,2009

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1. Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS);F1000Research;2024-03-06

2. Novel Pathogenic Variants Leading to Sporadic Amyotrophic Lateral Sclerosis in Greek Patients;Genes;2024-02-28

3. Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS);F1000Research;2023-09-07

4. Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population;Journal of the Neurological Sciences;2022-11

5. Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis;Journal of the Neurological Sciences;2021-11

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