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

A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

(2012) Alexander M. Rossor et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Small Heat-Shock Protein HSPB1 Mutants Stabilize Microtubules in Charcot-Marie-Tooth Neuropathy

(2011) L. Almeida-Souza et al.   JOURNAL OF NEUROSCIENCE

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

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

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

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

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

(2008) H. Houlden et al.   NEUROLOGY