Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China

ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function

(2022) Desiree M. Baron et al.   Cell Reports

Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy

(2021) Xu-Ying Li et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant

(2021) Tauana Bernardes Leoni et al.   ANNALS OF NEUROLOGY

Genotype-phenotype correlations in a chinese population with familial amyotrophic lateral sclerosis

(2021) WenChao Liu et al.   NEUROLOGICAL RESEARCH

The distinct manifestation of young-onset amyotrophic lateral sclerosis in China

(2020) Jianing Lin et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis

(2020) Magdalena Kuźma-Kozakiewicz et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Genotype–phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation

(2019) Claudia Ricci et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia

(2019) Laurence Renaud et al.   Acta Neuropathologica Communications

Familial flail leg ALS caused by PFN1 mutation

(2019) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Prion-Like Propagation of Protein Misfolding and Aggregation in Amyotrophic Lateral Sclerosis

(2019) Luke McAlary et al.   Frontiers in Molecular Neuroscience

The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

(2019) Lucia Corrado et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Novel and Recurrent Mutations in a Cohort of Chinese Patients With Young-Onset Amyotrophic Lateral Sclerosis

(2019) Jianwen Deng et al.   Frontiers in Neuroscience

ALS Genes in the Genomic Era and their Implications for FTD

(2018) Hung Phuoc Nguyen et al.   TRENDS IN GENETICS

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2017) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Amyotrophic lateral sclerosis

(2017) Michael A van Es et al.   LANCET

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown et al.   NEW ENGLAND JOURNAL OF MEDICINE

The phosphatase calcineurin regulates pathological TDP-43 phosphorylation

(2016) Nicole F. Liachko et al.   ACTA NEUROPATHOLOGICA

Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin

(2016) Zhang-Yu Zou et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis

(2015) Sarah Morgan et al.   NEUROBIOLOGY OF AGING

Genetic architecture of ALS in Sardinia

(2014) Giuseppe Borghero et al.   NEUROBIOLOGY OF AGING

Rodent models of amyotrophic lateral sclerosis

(2013) Philip McGoldrick et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

(2013) Eun-Joo Kim et al.   NEUROBIOLOGY OF AGING

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease

(2013) Matthis Synofzik et al.   NEUROBIOLOGY OF AGING

C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in China

(2013) Bin Jiao et al.   Frontiers in Cellular Neuroscience

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

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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

Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene

(2011) Adriano Chiò   ARCHIVES OF NEUROLOGY

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

(2011) S Orrù et al.   CLINICAL GENETICS

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

(2011) Edward B. Lee et al.   NATURE REVIEWS NEUROSCIENCE

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

G41SSOD1mutation: A common ancestor for six ALS Italian families with an aggressive phenotype

(2010) Stefania Battistini et al.   Amyotrophic Lateral Sclerosis

Familial ALS with G298S Mutation in TARDBP: A Comparison of CSF Tau Protein Levels with those in Sporadic ALS

(2010) Ichiro Nozaki et al.   INTERNAL MEDICINE

Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice

(2010) Y.-F. Xu et al.   JOURNAL OF NEUROSCIENCE

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

(2009) G. S. Pesiridis et al.   HUMAN MOLECULAR GENETICS

Age and founder effect of SOD1 A4V mutation causing ALS

(2009) M. Saeed et al.   NEUROLOGY

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics