4.6 Article

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Related references

Note: Only part of the references are listed.
Article Cardiac & Cardiovascular Systems

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

Mahshid Malakootian et al.

Summary: This study presents evidence of an association between a nucleotide variation in the DTNA gene and early-onset AF in an Iranian family. The findings further confirm the significant role of genetics in the incidence of early-onset AF and expand the spectrum of gene variations that lead to AF. This discovery may have further implications for the treatment and prevention of AF.

BMC CARDIOVASCULAR DISORDERS (2022)

Article Genetics & Heredity

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

Judith Zima et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)

Review Neurosciences

The role of the dystrophin glycoprotein complex on the neuromuscular system

Dina C. Belhasan et al.

NEUROSCIENCE LETTERS (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Biochemistry & Molecular Biology

Dystrobrevin is required postsynaptically for homeostatic potentiation at the Drosophila NMJ

Salinee Jantrapirom et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2019)

Article Rheumatology

Myositis Autoantigen Expression Correlates With Muscle Regeneration but Not Autoantibody Specificity

Iago Pinal-Fernandez et al.

ARTHRITIS & RHEUMATOLOGY (2019)

Article Genetics & Heredity

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

Christine C. Bruels et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2019)

Article Clinical Neurology

Identification of distinctive interferon gene signatures in different types of myositis

Iago Pinal-Fernandez et al.

NEUROLOGY (2019)

Article Medicine, General & Internal

Muscular dystrophies

Eugenio Mercuri et al.

LANCET (2019)

Article Genetics & Heredity

Next-generation sequencing approach to hyperCKemia A 2-year cohort study

Anna Rubegni et al.

NEUROLOGY-GENETICS (2019)

Article Neurosciences

A transcriptome-based assessment of the astrocytic dystrophin-associated complex in the developing human brain

Matthew J. Simon et al.

JOURNAL OF NEUROSCIENCE RESEARCH (2018)

Article Clinical Neurology

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

Babi Ramesh Reddy Nallamilli et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2018)

Article Genetics & Heredity

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Hemakumar M. Reddy et al.

JOURNAL OF HUMAN GENETICS (2017)

Article Biochemical Research Methods

The Phyre2 web portal for protein modeling, prediction and analysis

Lawrence A. Kelley et al.

NATURE PROTOCOLS (2015)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Review Clinical Neurology

Myopathic causes of exercise intolerance with rhabdomyolysis

Ros Quinlivan et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2012)

Review Biochemistry & Molecular Biology

The Role of Alpha-Dystrobrevin in Striated Muscle

Masayuki Nakamori et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2011)

Editorial Material Clinical Neurology

MYOGLOBINURIA AND MUSCLE PAIN ARE COMMON IN PATIENTS WITH LIMB-GIRDLE MUSCULAR DYSTROPHY 21

K. D. Mathews et al.

NEUROLOGY (2011)

Article Biochemical Research Methods

Fast and accurate long-read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2010)

Article Neurosciences

The Roles of the Dystrophin-Associated Glycoprotein Complex at the Synapse

Gonneke S. K. Pilgram et al.

MOLECULAR NEUROBIOLOGY (2010)

Review Genetics & Heredity

Analysing biological pathways in genome-wide association studies

Kai Wang et al.

NATURE REVIEWS GENETICS (2010)

Article Clinical Neurology

Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

Loren Pena et al.

NEUROMUSCULAR DISORDERS (2010)

Article Biochemical Research Methods

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP plus

Eugene V. Davydov et al.

PLOS COMPUTATIONAL BIOLOGY (2010)

Article Developmental Biology

Dystrobrevin and dystrophin family gene expression in zebrafish

Sabrina Boehm et al.

GENE EXPRESSION PATTERNS (2008)

Article Biochemistry & Molecular Biology

ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to β-dystroglycan

M Ishikawa-Sakurai et al.

HUMAN MOLECULAR GENETICS (2004)

Article Developmental Biology

Embryonic expression patterns of the Drosophila dystrophin-associated glycoprotein complex orthologs

LC Dekkers et al.

GENE EXPRESSION PATTERNS (2004)

Article Clinical Neurology

Deficiency of the syntrophins and α-dystrobrevin in patients with inherited myopathy

KJ Jones et al.

NEUROMUSCULAR DISORDERS (2003)

Article Clinical Neurology

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

R Cagliani et al.

NEUROMUSCULAR DISORDERS (2001)

Article Biochemistry & Molecular Biology

Molecular, genetic and physiological characterisation of dystrobrevin-like (dyb-1) mutants of Caenorhabditis elegans

K Gieseler et al.

JOURNAL OF MOLECULAR BIOLOGY (2001)