HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

Mutant HSPB8 causes motor neuron-specific neurite degeneration

(2010) Joy Irobi et al.   HUMAN MOLECULAR GENETICS

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

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

(2010) M. Luigetti et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

(2010) S. J. Kolb et al.   NEUROLOGY

Heat shock protein 27 phosphorylation: kinases, phosphatases, functions and pathology

(2009) Sergiy Kostenko et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Child Carrying a Novel Frame-Shift Mutation in the Small Heat-Shock Protein 27 Gene

(2009) Paola Mandich et al.   JOURNAL OF CHILD NEUROLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)

(2008) P A James et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation

(2008) Yoshihisa Ikeda et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2008) H. Houlden et al.   NEUROLOGY

Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review): Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation

(2008) J. D. England et al.   NEUROLOGY