Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis

NEK1mutations in familial amyotrophic lateral sclerosis

(2016) David Brenner et al.   BRAIN

Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort

(2015) Ricci Claudia et al.   GENE

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms

(2014) Leslie I. Grad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) Smita Saxena et al.   NEURON

The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism

(2012) Daniel P. Czech et al.   JOURNAL OF NEUROCHEMISTRY

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis

(2011) Karin Forsberg et al.   ACTA NEUROPATHOLOGICA

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments

(2011) Vivek Swarup et al.   BRAIN

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Selective Neuronal Vulnerability in Neurodegenerative Diseases: from Stressor Thresholds to Degeneration

(2011) Smita Saxena et al.   NEURON

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

The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis

(2010) Hélène Blasco et al.   Amyotrophic Lateral Sclerosis

Intracerebroventricular infusion of monoclonal antibody or its derived Fab fragment against misfolded forms of SOD1 mutant delays mortality in a mouse model of ALS

(2010) Francois Gros-Louis et al.   JOURNAL OF NEUROCHEMISTRY

Neuronal over-expression of chromogranin A accelerates disease onset in a mouse model of ALS

(2010) Samer Abou Ezzi et al.   JOURNAL OF NEUROCHEMISTRY

Common Functional Genetic Variants in Catecholamine Storage Vesicle Protein Promoter Motifs Interact to Trigger Systemic Hypertension

(2010) Kuixing Zhang et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

(2010) Daryl A Bosco et al.   NATURE NEUROSCIENCE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Novel Antibodies Reveal Inclusions Containing Non-Native SOD1 in Sporadic ALS Patients

(2010) Karin Forsberg et al.   PLoS One

P413L CHGB is not associated with ALS susceptibility or age at onset in a Dutch population

(2010) P. W. J. van Vught et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

(2009) Michael A. Gitcho et al.   ACTA NEUROPATHOLOGICA

ER Stress and Unfolded Protein Response in Amyotrophic Lateral Sclerosis

(2009) Kohsuke Kanekura et al.   MOLECULAR NEUROBIOLOGY

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

(2009) F. Gros-Louis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Superoxide dismutase 1 mutants related to amyotrophic lateral sclerosis induce endoplasmic stress in neuro2a cells

(2007) Yeo Kyoung Oh et al.   JOURNAL OF NEUROCHEMISTRY