A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family

A novel AARS mutation in a family with dominant myeloneuropathy

(2015) W. W. Motley et al.   NEUROLOGY

Small heat-shock proteins: important players in regulating cellular proteostasis

(2014) Teresa M. Treweek et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Charcot–Marie–Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

(2014) Claudia Stancanelli et al.   NEUROLOGICAL SCIENCES

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

The specificity of the interaction between  B-crystallin and desmin filaments and its impact on filament aggregation and cell viability

(2013) J. L. Elliott et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

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

Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice

(2012) Amit K. Srivastava et al.   NEUROBIOLOGY OF DISEASE

The distal hereditary motor neuropathies

(2011) Alexander M Rossor et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2011) Simona Capponi et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

(2011) Constantin d'Ydewalle et al.   NATURE MEDICINE

Myofibrillar myopathies

(2011) Duygu Selcen   NEUROMUSCULAR DISORDERS

Large Potentials of Small Heat Shock Proteins

(2011) Evgeny V. Mymrikov et al.   PHYSIOLOGICAL REVIEWS

A Knock-In Mouse Model for the R120G Mutation of αB-Crystallin Recapitulates Human Hereditary Myopathy and Cataracts

(2011) Usha P. Andley et al.   PLoS One

Small heat shock proteins and α-crystallins: dynamic proteins with flexible functions

(2011) Eman Basha et al.   TRENDS IN BIOCHEMICAL SCIENCES

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 method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Why proteins without an α-crystallin domain should not be included in the human small heat shock protein family HSPB

(2009) Guido Kappé et al.   CELL STRESS & CHAPERONES

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

(2009) Prateek Kumar et al.   Nature Protocols