Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea

Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

(2021) Elena Abati et al.   Annals of Clinical and Translational Neurology

Charcot‐Marie‐Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center

(2021) Eduardo Boiteux Uchôa Cavalcanti et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center

(2020) Luca Gentile et al.   NEUROLOGICAL SCIENCES

Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy

(2020) Ah Jin Lee et al.   Genes & Genomics

Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in Taiwan

(2019) Yun‐Hsin Hsu et al.   Annals of Clinical and Translational Neurology

Small Heat Shock Proteins, Big Impact on Protein Aggregation in Neurodegenerative Disease

(2019) Jack M. Webster et al.   Frontiers in Pharmacology

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

(2019) Andrea Cortese et al.   NEUROLOGY

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan

(2018) Hajime Tanabe et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Small heat shock protein B3 (HSPB3 ) mutation in an axonal Charcot-Marie-Tooth disease family

(2018) Da E. Nam et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan

(2018) Akiko Yoshimura et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations

(2017) Andoni Echaniz-Laguna et al.   HUMAN MUTATION

The Impact of Small Heat Shock Proteins (HspBs) in Alzheimer’s and Other Neurological Diseases

(2016) Nikola Golenhofen et al.   CURRENT PHARMACEUTICAL DESIGN

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

(2016)   MOLECULES AND CELLS

Mutations inHSPB8causing a new phenotype of distal myopathy and motor neuropathy

(2015) Roula Ghaoui et al.   NEUROLOGY

Ser135Phe mutation in HSPB1 (HSP27) from Charcot–Marie–Tooth disease type 2F families

(2014) Hye Jin Kim et al.   Genes & Genomics

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

(2014) Helle Høyer et al.   Biomed Research International

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy

(2014) Christina DiVincenzo et al.   Molecular Genetics & Genomic Medicine

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1

(2013) Emil Ylikallio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

(2013) R. Sivera et al.   NEUROLOGY

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot–Marie–Tooth disease type 2L

(2013) Khriezhanuo Nakhro et al.   NEUROMUSCULAR DISORDERS

Identification of a Novel Oligomerization Disrupting Mutation inCRYΑAAssociated with Congenital Cataract in a South Australian Family

(2012) Kate J. Laurie et al.   HUMAN MUTATION

Small heat shock proteins HSP27 (HspB1), αB-crystallin (HspB5) and HSP22 (HspB8) as regulators of cell death

(2012) Julie Acunzo et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy

(2010) P. Solla et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach

(2010) S. J. Kolb et al.   NEUROLOGY

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation

(2008) Ki Wha Chung et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

(2008) H. Houlden et al.   NEUROLOGY