New ALS-Related Genes Expand theSpectrum Paradigmof Amyotrophic Lateral Sclerosis

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

(2016) Claire S. Leblond et al.   NEUROBIOLOGY OF AGING

Intrafamilial clinical variability in individuals carrying theCHCHD10mutation Gly66Val

(2015) P. Pasanen et al.   ACTA NEUROLOGICA SCANDINAVICA

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

CHCHD10mutations are not a common cause ofSMN1-negative type III/IV spinal motor atrophy

(2015) Godelieve Morel et al.   ANNALS OF NEUROLOGY

Hereditary inclusion-body myopathies

(2015) Aldobrando Broccolini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

IsCHCHD10Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?: Figure 1

(2015) Carol Dobson-Stone et al.   BRAIN

Analysis of theCHCHD10gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

(2015) Oriol Dols-Icardo et al.   BRAIN

A distinct clinical phenotype in a German kindred with motor neuron disease carrying aCHCHD10mutation

(2015) Delia Kurzwelly et al.   BRAIN

CHCHD10mutations in Italian patients with sporadic amyotrophic lateral sclerosis: Figure 1

(2015) Dario Ronchi et al.   BRAIN

Mutation analysis ofCHCHD10in different neurodegenerative diseases

(2015) Ming Zhang et al.   BRAIN

Genetic advances in sporadic inclusion body myositis

(2015) Qiang Gang et al.   CURRENT OPINION IN RHEUMATOLOGY

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

(2015) Viviana Pensato et al.   JOURNAL OF NEUROLOGY

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

(2015) Chun Tak Kwok et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

(2015) Giorgio Tasca et al.   MUSCLE & NERVE

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

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

(2015) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

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

(2015) Makito Hirano et al.   NEUROBIOLOGY OF AGING

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

(2015) Chun Hao Wong et al.   NEUROBIOLOGY OF AGING

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis

(2015) Jennifer A. Fifita et al.   NEUROBIOLOGY OF AGING

Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis

(2015) Kon-Ping Lin et al.   NEUROBIOLOGY OF AGING

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

(2015) Kelly L. Williams et al.   NEUROBIOLOGY OF AGING

SQSTM1splice site mutation in distal myopathy with rimmed vacuoles

(2015) Robert C. Bucelli et al.   NEUROLOGY

Multisystem proteinopathy: Table

(2015) J. Paul Taylor   NEUROLOGY

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

(2015) Conrad C. Weihl et al.   NEUROMUSCULAR DISORDERS

Clinicopathological description of two cases withSQSTM1gene mutation associated with frontotemporal dementia

(2015) Gabor G. Kovacs et al.   NEUROPATHOLOGY

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to aMATR3mutation

(2015) Satoshi Yamashita et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)

(2015) Serena Lattante et al.   TRENDS IN GENETICS

Mitochondrial dynamism and the pathogenesis of Amyotrophic Lateral Sclerosis

(2015) Mauro Cozzolino et al.   Frontiers in Cellular Neuroscience

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

(2014) Julie van der Zee et al.   ACTA NEUROPATHOLOGICA

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY

Phenotype of matrin-3-related distal myopathy in 16 German patients

(2014) Tobias J. Müller et al.   ANNALS OF NEUROLOGY

Late onset spinal motor neuronopathy is caused by mutation inCHCHD10

(2014) Sini Penttilä et al.   ANNALS OF NEUROLOGY

Role of mitochondria in mutant SOD1 linked amyotrophic lateral sclerosis

(2014) Wenzhi Tan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

(2014) Wouter van Rheenen et al.   BRAIN

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

(2014) Kathrin Müller et al.   BRAIN

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

(2014) Janel O. Johnson et al.   BRAIN

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

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

(2014) Sarah L. Rea et al.   EXPERIMENTAL CELL RESEARCH

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

The phenotypic variability of amyotrophic lateral sclerosis

(2014) Bart Swinnen et al.   Nature Reviews Neurology

No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy

(2014) Meinie Seelen et al.   NEUROBIOLOGY OF AGING

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

(2014) Annabelle Chaussenot et al.   NEUROBIOLOGY OF AGING

Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients

(2014) Stéphanie Millecamps et al.   NEUROBIOLOGY OF AGING

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy

(2014) Senda Ajroud-Driss et al.   NEUROGENETICS

Inclusion Body Myositis

(2014) Mazen M. Dimachkie et al.   NEUROLOGIC CLINICS

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene

(2013) Hiroshi Shimizu et al.   ACTA NEUROPATHOLOGICA

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

(2013) Elisa Teyssou et al.   ACTA NEUROPATHOLOGICA

Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

(2013) M Sabatelli et al.   CLINICAL GENETICS

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

(2013) Chun T Kwok et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2013) Hong Joo Kim et al.   NATURE

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis

(2013) YongPing Chen et al.   NEUROBIOLOGY OF AGING

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with “multisystem proteinopathy” and frontotemporal lobar degeneration phenotypes

(2013) Isabelle Le Ber et al.   NEUROBIOLOGY OF AGING

Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis

(2013) M. Hirano et al.   NEUROLOGY

Motor neuron involvement in multisystem proteinopathy: Implications for ALS

(2013) M. Benatar et al.   NEUROLOGY

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

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

(2012) A. Chio et al.   BRAIN

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

(2012) D. Ronchi et al.   BRAIN

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez et al.   BRAIN

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

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN 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

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

(2012) Amelia Conte et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2012) Jack W. Miller et al.   NEUROBIOLOGY OF AGING

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

(2012) Yevgeniya Abramzon et al.   NEUROBIOLOGY OF AGING

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

(2012) Antonia Ratti et al.   NEUROBIOLOGY OF AGING

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

(2012) P. Gonzalez-Perez et al.   NEUROLOGY

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

Abnormalities of NBR1, a novel autophagy-associated protein, in muscle fibers of sporadic inclusion-body myositis

(2011) Carla D’Agostino et al.   ACTA NEUROPATHOLOGICA

Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS

(2011) Mario Sabatelli et al.   Amyotrophic Lateral Sclerosis

Proposed criteria for familial amyotrophic lateral sclerosis

(2011) Susan Byrne et al.   Amyotrophic Lateral Sclerosis

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

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

(2011) Julie Phukan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The split hand syndrome in amyotrophic lateral sclerosis

(2011) Andrew Eisen 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

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis

(2011) Cinzia Tiloca et al.   NEUROBIOLOGY OF AGING

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

(2011) Max Koppers et al.   NEUROBIOLOGY OF AGING

Late-onset lower motor neuronopathy: A new autosomal dominant disorder

(2011) M. Jokela et al.   NEUROLOGY

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

(2011) Johanna Palmio et al.   NEUROMUSCULAR DISORDERS

Distal myopathies – New genetic entities expand diagnostic challenge

(2011) Bjarne Udd   NEUROMUSCULAR DISORDERS

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

Mitochondrial dysfunction in ALS

(2011) Mauro Cozzolino et al.   PROGRESS IN NEUROBIOLOGY

Mitochondrial Respiratory Chain Dysfunction in Muscle From Patients With Amyotrophic Lateral Sclerosis

(2010) Veronica Crugnola et al.   ARCHIVES OF NEUROLOGY

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

(2010) S. Byrne et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings

(2010) Kishore R. Kumar et al.   NEUROMUSCULAR DISORDERS

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

(2009) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inclusion body myopathy, Paget’s disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling

(2009) V Viassolo et al.   CLINICAL GENETICS

TAR DNA-Binding Protein 43 Accumulation in Protein Aggregate Myopathies

(2009) Montse Olivé et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis

(2009) Mohammad Salajegheh et al.   MUSCLE & NERVE

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

(2009) J. van der Zee et al.   NEUROLOGY

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

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

Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia

(2009) Conrad C. Weihl et al.   NEUROMUSCULAR DISORDERS

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia

(2009) Tanya Stojkovic et al.   NEUROMUSCULAR DISORDERS

TDP-43 accumulation is common in myopathies with rimmed vacuoles

(2008) Benno Küsters et al.   ACTA NEUROPATHOLOGICA

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

(2008) Virginia. E. Kimonis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Amyotrophic Lateral Sclerosis With Ragged-Red Fibers

(2008) Michio Hirano et al.   ARCHIVES OF NEUROLOGY

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

(2008) Virginia E. Kimonis et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

(2008) C C Weihl et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Natural history of young-adult amyotrophic lateral sclerosis

(2008) M. Sabatelli et al.   NEUROLOGY