Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

(2012) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

(2012) Heather Stewart et al.   ACTA NEUROPATHOLOGICA

Mutations in the TRPV4 Gene Are Not Associated With Sporadic Progressive Muscular Atrophy

(2012) Lotte Vlam et al.   ARCHIVES OF NEUROLOGY

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

Phenotype difference between ALS patients with expanded repeats inC9ORF72and patients with mutations in other ALS-related genes

(2012) Stéphanie Millecamps et al.   JOURNAL OF MEDICAL GENETICS

Why are upper motor neuron signs difficult to elicit in amyotrophic lateral sclerosis?: Figure 1

(2012) Michael Swash   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

(2012) W. van Rheenen et al.   NEUROLOGY

Mechanisms of Loss of Functions of Human Angiogenin Variants Implicated in Amyotrophic Lateral Sclerosis

(2012) Aditya K. Padhi et al.   PLoS One

Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family

(2011) Julien Praline et al.   Amyotrophic Lateral Sclerosis

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

(2011) Michael A. van Es et al.   ANNALS OF NEUROLOGY

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology

(2011) M. H. B. Huisman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

(2011) Marialuisa Quadri et al.   NEUROGENETICS

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation

(2011) Jean-Philippe Camdessanché et al.   Orphanet Journal of Rare Diseases

The Heritability of Amyotrophic Lateral Sclerosis in a Clinically Ascertained United States Research Registry

(2011) Thomas S. Wingo et al.   PLoS One

Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation

(2010) Glenn Lopate et al.   Amyotrophic Lateral Sclerosis

FUS Mutations in Familial Amyotrophic Lateral Sclerosis in the Netherlands

(2010) Ewout J. N. Groen et al.   ARCHIVES OF NEUROLOGY

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

(2010) S. Millecamps et al.   JOURNAL OF MEDICAL GENETICS

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration

(2010) Mustapha Ghanim et al.   JOURNAL OF NEUROLOGY

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese

(2010) Aritoshi Iida et al.   NEUROBIOLOGY OF AGING

Genetic contribution of FUS to frontotemporal lobar degeneration

(2010) T. Van Langenhove et al.   NEUROLOGY

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

(2010) J. Yan et al.   NEUROLOGY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

(2010) Laura E. Cox et al.   PLoS One

TARDBP Mutations in Frontotemporal Lobar Degeneration: Frequency, Clinical Features, and Disease Course

(2010) B. Borroni et al.   REJUVENATION RESEARCH

TARDBPmutations in motoneuron disease with frontotemporal lobar degeneration

(2009) Lina Benajiba et al.   ANNALS OF NEUROLOGY

Angiogenin protects motoneurons against hypoxic injury

(2009) J Sebastià et al.   CELL DEATH AND DIFFERENTIATION

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis

(2009) M. A. van Es et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

(2009) I. P. Blair et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis

(2009) Masaki Kamada et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

(2009) Gabor G. Kovacs et al.   MOVEMENT DISORDERS

A CASE OF ALS-FTD IN A LARGE FALS PEDIGREE WITH A K17I ANG MUTATION

(2009) M. A. van Es et al.   NEUROLOGY

Study of 962 patients indicates progressive muscular atrophy is a form of ALS

(2009) W. -K. Kim et al.   NEUROLOGY

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

(2009) N. Ticozzi et al.   NEUROLOGY

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

The rare G93D mutation causes a slowly progressing lower motor neuron disease

(2008) Gabriella Restagno et al.   Amyotrophic Lateral Sclerosis

SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management

(2008) Andrew Eisen et al.   Amyotrophic Lateral Sclerosis

Two German Kindreds With Familial Amyotrophic Lateral Sclerosis Due to TARDBP Mutations

(2008) Peter Kühnlein et al.   ARCHIVES OF NEUROLOGY

Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: A clinical and neuropathological study

(2008) Megumi Suzuki et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Genetics of familial amyotrophic lateral sclerosis

(2008) P. N. Valdmanis et al.   NEUROLOGY

SOD1 and Amyotrophic Lateral Sclerosis: Mutations and Oligomerization

(2008) Lucia Banci et al.   PLoS One