Related references
Note: Only part of the references are listed.Mutations ofDNAJC7are rare in Chinese amyotrophic lateral sclerosis patients
Xiaohan Sun et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2021)
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results
Jaakko Sarparanta et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation
Kang-Yang Jih et al.
NEUROLOGY-GENETICS (2020)
Mutation Analysis ofDNAJCFamily forEarly-OnsetParkinson's Disease in a Chinese Cohort
ChunYu Li et al.
MOVEMENT DISORDERS (2020)
A Novel Potentially Pathogenic Rare Variant in theDNAJC7Gene Identified in Amyotrophic Lateral Sclerosis Patients From Mainland China
Mengli Wang et al.
FRONTIERS IN GENETICS (2020)
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
Sali M. K. Farhan et al.
NATURE NEUROSCIENCE (2019)
CADD: predicting the deleteriousness of variants throughout the human genome
Philipp Rentzsch et al.
NUCLEIC ACIDS RESEARCH (2019)
DNAJ Proteins in neurodegeneration: essential and protective factors
Christina Zarouchlioti et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2018)
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study
Frederick E. Dewey et al.
SCIENCE (2016)
Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics
Linn Fagerberg et al.
MOLECULAR & CELLULAR PROTEOMICS (2014)
HSJ1-related hereditary neuropathies Novel mutations and extended clinical spectrum
Burkhard Gess et al.
NEUROLOGY (2014)
Spliceman-a computational web server that predicts sequence variations in pre-mRNA splicing
Kian Huat Lim et al.
BIOINFORMATICS (2012)
Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes
Kian Huat Lim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Cofactor Tpr2 combines two TPR domains and a J domain to regulate the Hsp70/Hsp90 chaperone system
A Brychzy et al.
EMBO JOURNAL (2003)
The J domain of Tpr2 regulates its interaction with the proapoptotic and cell-cycle checkpoint protein, Rad9
SL Xiang et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2001)
El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis
BR Brooks et al.
AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS (2000)
Genetic suppression of polyglutamine toxicity in Drosophila
P Kazemi-Esfarjani et al.
SCIENCE (2000)