4.6 Article

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

P. Pasanen et al.

ACTA NEUROLOGICA SCANDINAVICA (2016)

Article Geriatrics & Gerontology

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

Claire S. Leblond et al.

NEUROBIOLOGY OF AGING (2016)

Letter Clinical Neurology

CHCHD10 Mutations Are Not a Common Cause of SMN1-Negative Type III/IV Spinal Motor Atrophy

Godelieve Morel et al.

ANNALS OF NEUROLOGY (2015)

Review Biochemistry & Molecular Biology

Hereditary inclusion-body myopathies

Aldobrando Broccolini et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2015)

Letter Clinical Neurology

Mutation analysis of CHCHD10 in different neurodegenerative diseases

Ming Zhang et al.

BRAIN (2015)

Review Rheumatology

Genetic advances in sporadic inclusion body myositis

Qiang Gang et al.

CURRENT OPINION IN RHEUMATOLOGY (2015)

Letter Clinical Neurology

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

Viviana Pensato et al.

JOURNAL OF NEUROLOGY (2015)

Article Clinical Neurology

VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK

Chun Tak Kwok et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2015)

Article Clinical Neurology

MAGNETIC RESONANCE IMAGING PATTERN RECOGNITION IN SPORADIC INCLUSION-BODY MYOSITIS

Giorgio Tasca et al.

MUSCLE & NERVE (2015)

Article Neurosciences

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

Axel Freischmidt et al.

NATURE NEUROSCIENCE (2015)

Article Geriatrics & Gerontology

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

Adriano Chio et al.

NEUROBIOLOGY OF AGING (2015)

Article Geriatrics & Gerontology

VCP gene analyses in Japanese patients with sporadic amyotrophic lateral sclerosis identify a new mutation

Makito Hirano et al.

NEUROBIOLOGY OF AGING (2015)

Article Geriatrics & Gerontology

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

Chun HaoWong et al.

NEUROBIOLOGY OF AGING (2015)

Article Geriatrics & Gerontology

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis

Jennifer A. Fifita et al.

NEUROBIOLOGY OF AGING (2015)

Article Geriatrics & Gerontology

Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis

Kon-Ping Lin et al.

NEUROBIOLOGY OF AGING (2015)

Article Geriatrics & Gerontology

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin

Kelly L. Williams et al.

NEUROBIOLOGY OF AGING (2015)

Article Clinical Neurology

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Robert C. Bucelli et al.

NEUROLOGY (2015)

Editorial Material Clinical Neurology

Multisystem proteinopathy Intersecting genetics in muscle, bone, and brain degeneration

J. Paul Taylor

NEUROLOGY (2015)

Article Clinical Neurology

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis

Conrad C. Weihl et al.

NEUROMUSCULAR DISORDERS (2015)

Article Multidisciplinary Sciences

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Elizabeth T. Cirulli et al.

SCIENCE (2015)

Article Neurosciences

Mitochondrial dynamism and the pathogenesis of Amyotrophic Lateral Sclerosis

Mauro Cozzolino et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2015)

Article Clinical Neurology

Late Onset Spinal Motor Neuronopathy Is Caused by Mutation in CHCHD10

Sini Penttila et al.

ANNALS OF NEUROLOGY (2015)

Article Clinical Neurology

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Julie van der Zee et al.

ACTA NEUROPATHOLOGICA (2014)

Article Clinical Neurology

Phenotype of Matrin-3-Related Distal Myopathy in 16 German Patients

Tobias J. Mueller et al.

ANNALS OF NEUROLOGY (2014)

Review Biochemistry & Molecular Biology

Role of mitochondria in mutant SOD1 linked amyotrophic lateral sclerosis

Wenzhi Tan et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2014)

Article Biochemistry & Molecular Biology

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB

Chun T. Kwok et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2014)

Review Oncology

SQSTM1 mutations - Bridging Paget disease of bone and ALS/FTLD

Sarah L. Rea et al.

EXPERIMENTAL CELL RESEARCH (2014)

Article Neurosciences

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Janel O. Johnson et al.

NATURE NEUROSCIENCE (2014)

Review Clinical Neurology

The phenotypic variability of amyotrophic lateral sclerosis

Bart Swinnen et al.

NATURE REVIEWS NEUROLOGY (2014)

Article Geriatrics & Gerontology

SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis

YongPing Chen et al.

NEUROBIOLOGY OF AGING (2014)

Article Clinical Neurology

Inclusion Body Myositis

Mazen M. Dimachkie et al.

NEUROLOGIC CLINICS (2014)

Article Clinical Neurology

Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene

Hiroshi Shimizu et al.

ACTA NEUROPATHOLOGICA (2013)

Article Clinical Neurology

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

Elisa Teyssou et al.

ACTA NEUROPATHOLOGICA (2013)

Review Genetics & Heredity

Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

M. Sabatelli et al.

CLINICAL GENETICS (2013)

Article Biochemistry & Molecular Biology

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

Bradley N. Smith et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Review Clinical Neurology

The clinical maze of mitochondrial neurology

Salvatore DiMauro et al.

NATURE REVIEWS NEUROLOGY (2013)

Article Clinical Neurology

Motor neuron involvement in multisystem proteinopathy: Implications for ALS

Michael Benatar et al.

NEUROLOGY (2013)

Article Clinical Neurology

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

Javier Simon-Sanchez et al.

BRAIN (2012)

Article Clinical Neurology

The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study

Julie Phukan et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)

Review Clinical Neurology

The split hand syndrome in amyotrophic lateral sclerosis

Andrew Eisen et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)

Article Clinical Neurology

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

Amelia Conte et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)

Article Geriatrics & Gerontology

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis

Cinzia Tiloca et al.

NEUROBIOLOGY OF AGING (2012)

Article Geriatrics & Gerontology

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

Jack W. Miller et al.

NEUROBIOLOGY OF AGING (2012)

Article Geriatrics & Gerontology

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

Yevgeniya Abramzon et al.

NEUROBIOLOGY OF AGING (2012)

Article Geriatrics & Gerontology

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

Antonia Ratti et al.

NEUROBIOLOGY OF AGING (2012)

Article Geriatrics & Gerontology

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

Max Koppers et al.

NEUROBIOLOGY OF AGING (2012)

Article Clinical Neurology

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

Paloma Gonzalez-Perez et al.

NEUROLOGY (2012)

Review Clinical Neurology

Distal myopathies - New genetic entities expand diagnostic challenge

Bjarne Udd

NEUROMUSCULAR DISORDERS (2012)

Review Neurosciences

Mitochondrial dysfunction in ALS

Mauro Cozzolino et al.

PROGRESS IN NEUROBIOLOGY (2012)

Article Clinical Neurology

Proposed criteria for familial amyotrophic lateral sclerosis

Susan Byrne et al.

AMYOTROPHIC LATERAL SCLEROSIS (2011)

Article Clinical Neurology

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Faisal Fecto et al.

ARCHIVES OF NEUROLOGY (2011)

Review Clinical Neurology

Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis

Susan Byrne et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2011)

Article Clinical Neurology

Late-onset lower motor neuronopathy A new autosomal dominant disorder

M. Jokela et al.

NEUROLOGY (2011)

Article Clinical Neurology

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Johanna Palmio et al.

NEUROMUSCULAR DISORDERS (2011)

Article Neurosciences

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Jane O. Johnson et al.

NEURON (2010)

Letter Clinical Neurology

TDP-43 accumulation is common in myopathies with rimmed vacuoles

Benno Kusters et al.

ACTA NEUROPATHOLOGICA (2009)

Article Clinical Neurology

TAR DNA-Binding Protein 43 Accumulation in Protein Aggregate Myopathies

Montse Olive et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2009)

Article Clinical Neurology

SARCOPLASMIC REDISTRIBUTION OF NUCLEAR TDP-43 IN INCLUSION BODY MYOSITIS

Mohammad Salajegheh et al.

MUSCLE & NERVE (2009)

Article Clinical Neurology

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

J. van der Zee et al.

NEUROLOGY (2009)

Article Genetics & Heredity

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

Virginia. E. Kimonis et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Clinical Neurology

Amyotrophic lateral sclerosis with ragged-red fibers

Michio Hirano et al.

ARCHIVES OF NEUROLOGY (2008)

Review Biochemistry & Molecular Biology

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder

Virginia E. Kimonis et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2008)

Article Clinical Neurology

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

C. C. Weihl et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)

Article Clinical Neurology

Natural history of young-adult amyotrophic lateral sclerosis

M. Sabatelli et al.

NEUROLOGY (2008)

Article Multidisciplinary Sciences

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Manuela Neumann et al.

SCIENCE (2006)

Article Biochemistry & Molecular Biology

Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation

CC Weihl et al.

HUMAN MOLECULAR GENETICS (2006)

Article Genetics & Heredity

Novel GNE Mutations in Italian Families with Autosomal Recessive Hereditary Inclusion-Body Myopathy

Aldobrando Broccolini et al.

HUMAN MUTATION (2004)

Review Medicine, General & Internal

Mechanisms of disease: Mitochondrial respiratory-chain diseases

S DiMauro et al.

NEW ENGLAND JOURNAL OF MEDICINE (2003)

Article Biochemistry & Molecular Biology

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease

LJ Hocking et al.

HUMAN MOLECULAR GENETICS (2002)

Article Genetics & Heredity

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone

N Laurin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2002)