BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot–Marie–Tooth disease

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease

(2019) Cong‐Xin Chen et al.   CLINICAL GENETICS

Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3

(2018) A. Schänzer et al.   MOLECULAR GENETICS AND METABOLISM

BAG3 myopathy is not always associated with cardiomyopathy

(2018) Annarita Ghosh Andersen et al.   NEUROMUSCULAR DISORDERS

Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2 -related diseases

(2018) Rui Wu et al.   NEUROPATHOLOGY

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot–Marie–Tooth disease

(2018) Seung Ju Kim et al.   Genes & Genomics

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

(2017) Michael Shy et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

(2017) Jean-Baptiste Noury et al.   MUSCLE & NERVE

X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene

(2016) Marina L. Kennerson et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

(2016) Wei Wang et al.   NEUROLOGY

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

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome

(2015) Anna Kostera-Pruszczyk et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Mutations inHSPB8causing a new phenotype of distal myopathy and motor neuropathy

(2015) Roula Ghaoui et al.   NEUROLOGY

BAG3 myofibrillar myopathy presenting with cardiomyopathy

(2015) Chamindra G. Konersman et al.   NEUROMUSCULAR DISORDERS

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation

(2014) Maria Franaszczyk et al.   Journal of Translational Medicine

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

(2014) Anna-Lena Semmler et al.   Orphanet Journal of Rare Diseases

BAG3 mutations: another cause of giant axonal neuropathy

(2012) Fatima Jaffer et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

(2011) Nadine Norton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BAG3-related myofibrillar myopathy in a Chinese family

(2011) HC Lee et al.   CLINICAL GENETICS

Dilated cardiomyopathy-associatedBAG3mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes

(2011) Takuro Arimura et al.   HUMAN MUTATION

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

(2011) Sinéad M. Murphy et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

(2010) Zagaa Odgerel et al.   NEUROMUSCULAR DISORDERS

Identification of the key structural motifs involved in HspB8/HspB6–Bag3 interaction

(2009) Margit Fuchs et al.   BIOCHEMICAL JOURNAL

Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family

(2009) Elena Gallardo et al.   JOURNAL OF NEUROLOGY

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

Different clinical and magnetic resonance imaging features between Charcot–Marie–Tooth disease type 1A and 2A

(2008) K.W. Chung et al.   NEUROMUSCULAR DISORDERS