Latest papers

Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.

A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP).

Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.

A 74-year-old man with memory loss and neuropathy who enjoys alcoholic beverages.

Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison.

[Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada].

Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults.

[Ma2 antibody and multiple mononeuropathies].

[Charcot arthropathy and neuropathic plantar ulceration caused by hereditary sensory and autonomic neuropathy]

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

Hereditary motor and sensory neuropathy (proximal dominant form, HMSN-P) among Brazilians of Japanese ancestry.

Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients.

Hereditary neuropathies.

[Clinical report of hereditary motor and sensory neuropathy with proximal dominance in Shiga prefecture].

Oral Curcumin Mitigates the Clinical and Neuropathologic Phenotype of the Trembler-J Mouse: A Potential Therapy for Inherited Neuropathy