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

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

Amyotrophic Lateral Sclerosis–Frontotemporal Lobar Dementia in 3 Families With p.Ala382Thr TARDBP Mutations

(2010) Adriano Chiò 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

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

(2010) F. L. Conforti et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis

(2010) Rui Huang et al.   NEUROBIOLOGY OF AGING

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

(2010) J. Mitchell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A role of BRCA1 and BRCA2germline mutations in breast cancer susceptibility within Sardinian population

(2009) Grazia Palomba et al.   BMC CANCER

Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6

(2009) Fabienne C Fiesel et al.   EMBO JOURNAL

TARDBP(TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations

(2009) R. Del Bo et al.   EUROPEAN JOURNAL OF NEUROLOGY

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

(2009) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

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

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

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

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

TDP-43A315T mutation in familial motor neuron disease

(2008) Michael A. Gitcho et al.   ANNALS OF NEUROLOGY

Structural determinants of the cellular localization and shuttling of TDP-43

(2008) Y. M. Ayala et al.   JOURNAL OF CELL SCIENCE

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

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

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Genetics of familial amyotrophic lateral sclerosis

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

Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans

(2008) Daniela Contu et al.   PLoS One

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease

(2007) Emanuele Buratti   Frontiers in Bioscience-Landmark