The phenotypic variability of amyotrophic lateral sclerosis

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

(2014) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

Long-term survival in amyotrophic lateral sclerosis: A population-based study

(2014) Elisabetta Pupillo et al.   ANNALS OF NEUROLOGY

Neuronal Matrix Metalloproteinase-9 Is a Determinant of Selective Neurodegeneration

(2014) Artem Kaplan et al.   NEURON

ExpandedC9ORF72Hexanucleotide Repeat in Depressive Pseudodementia

(2014) Kevin F. Bieniek et al.   JAMA Neurology

Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

(2013) M Sabatelli et al.   CLINICAL GENETICS

Sporadic Parkinson disease and Amyotrophic Lateral Sclerosis complex (Brait–Fahn–Schwartz Disease)

(2013) Concetta Manno et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

(2013) Marka van Blitterswijk et al.   LANCET NEUROLOGY

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

Neuropsychiatric changes precede classic motor symptoms in ALS and do not affect survival

(2013) E. Mioshi et al.   NEUROLOGY

C9ORF72 expansions, parkinsonism, and Parkinson disease: A clinicopathologic study

(2013) J. Cooper-Knock et al.   NEUROLOGY

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

(2013) D. J. Hensman Moss et al.   NEUROLOGY

Neuroprotection through Excitability and mTOR Required in ALS Motoneurons to Delay Disease and Extend Survival

(2013) Smita Saxena et al.   NEURON

Coexistence of Huntington’s disease and amyotrophic lateral sclerosis: a clinicopathologic study

(2012) Mari Tada et al.   ACTA NEUROPATHOLOGICA

Novel FUS Deletion in a Patient With Juvenile Amyotrophic Lateral Sclerosis

(2012) Jean-Sébastien Langlais   ARCHIVES OF NEUROLOGY

Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat

(2012) J. Hodges   BRAIN

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

(2012) J. S. Snowden et al.   BRAIN

Corticobasal and ataxia syndromes widen the spectrum ofC9ORF72hexanucleotide expansion disease

(2012) SG Lindquist et al.   CLINICAL 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

White matter pathology in ALS and lower motor neuron ALS variants: a diffusion tensor imaging study using tract-based spatial statistics

(2012) Johannes Prudlo et al.   JOURNAL OF NEUROLOGY

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

(2012) Susan Byrne et al.   LANCET NEUROLOGY

Clinical evolution of pure upper motor neuron disease/dysfunction (PUMMD)

(2012) Emanuele D'amico et al.   MUSCLE & NERVE

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

(2012) Annelies Van Hoecke et al.   NATURE MEDICINE

Extensive genetics of ALS: A population-based study in Italy

(2012) A. Chio et al.   NEUROLOGY

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

(2012) W. van Rheenen et al.   NEUROLOGY

Autonomic dysfunction in the early stage of ALS with bulbar involvement

(2011) Antonio Merico et al.   Amyotrophic Lateral Sclerosis

Huntington Chorea Presenting With Motor Neuron Disease

(2011) Hamid Sadeghian et al.   ARCHIVES OF NEUROLOGY

Upper and extra-motoneuron involvement in early motoneuron disease: a diffusion tensor imaging study

(2011) M. M. van der Graaff et al.   BRAIN

FTD and ALS: A Tale of Two Diseases

(2011) R. Ferrari et al.   Current Alzheimer Research

Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease

(2011) Ammar Al-Chalabi et al.   HUMAN HEREDITY

Ataxin-2 repeat-length variation and neurodegeneration

(2011) O. A. Ross et al.   HUMAN MOLECULAR GENETICS

The Frontotemporal Syndromes of ALS. Clinicopathological Correlates

(2011) Michael Joseph Strong et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation

(2011) Satoshi Yamashita et al.   JOURNAL OF NEUROLOGY

Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study

(2011) A. Chio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

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

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

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

(2011) Frank P. Diekstra et al.   NEUROBIOLOGY OF AGING

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2

(2011) P. Van Damme et al.   NEUROLOGY

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

ALS-Parkinsonism-Dementia complex of Kii and other related diseases in Japan

(2011) Ryuji Kaji et al.   PARKINSONISM & RELATED DISORDERS

Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis

(2010) Ryan Vass et al.   ACTA NEUROPATHOLOGICA

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

(2010) Peter Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic Heterogeneity in a SOD1 G93D Italian ALS Family: An Example of Human Model to Study a Complex Disease

(2010) Silvana Penco et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosis

(2010) Martin R. Turner et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Nigrostriatal dysfunction in patients with amyotrophic lateral sclerosis and parkinsonism

(2010) Hee Kyung Park et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Parkinsonism and motor neuron diseases: Twenty-seven patients with diverse overlap syndromes

(2010) Rebecca M. Wolf Gilbert et al.   MOVEMENT DISORDERS

Progressive muscular atrophy and other lower motor neuron syndromes of adults

(2010) Lewis P. Rowland   MUSCLE & NERVE

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

(2010) D. Baumer et al.   NEUROLOGY

A Long-term Prospective Study of the Natural Course of Sporadic Adult-Onset Lower Motor Neuron Syndromes

(2009) Renske M. Van den Berg-Vos et al.   ARCHIVES OF NEUROLOGY

Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders

(2009) Patricia Lillo et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature

(2009) Lorenzo Nanetti et al.   JOURNAL OF NEUROLOGY

The Combination of Dopa-Responsive Parkinsonian Syndrome and Motor Neuron Disease

(2009) Elmar Hans Pinkhardt et al.   Neurodegenerative Diseases

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

(2009) W. -K. Kim et al.   NEUROLOGY

Natural history and clinical features of the flail arm and flail leg ALS variants

(2009) L. C. Wijesekera et al.   NEUROLOGY

Clinical features that distinguish PLS, upper motor neuron-dominant ALS, and typical ALS

(2009) P. H. Gordon et al.   NEUROLOGY

ALS motor phenotype heterogeneity, focality, and spread: Deconstructing motor neuron degeneration

(2009) J. M. Ravits et al.   NEUROLOGY

Pseudopolyneuritic form of ALS revisited: Clinical and pathological heterogeneity

(2009) Zen Kobayashi et al.   NEUROPATHOLOGY

Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis

(2008) Naoki Atsuta et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The ALS/PDC syndrome of Guam and the cycad hypothesis

(2008) J. C. Steele et al.   NEUROLOGY

Natural history of young-adult amyotrophic lateral sclerosis

(2008) M. Sabatelli et al.   NEUROLOGY

Analysis of survival and prognostic factors in amyotrophic lateral sclerosis: a population based study

(2007) S Zoccolella et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Chorea-ballism associated with familial amyotrophic lateral sclerosis. A clinical, genetic, and neuropathological study

(2007) Josep Gamez et al.   MOVEMENT DISORDERS