JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM Journal

publication venue for

EXPANDING THE CLINICAL SPECTRUM: TTN MUTATIONS ASSOCIATED WITH NEUROPATHY AND NEUROPATHIC PAIN 2022
Severe back pain and burning pain all over can be seen in atypical presentations of hereditary neuropathy with liability to pressure palsy 2021
CMT 1E associated with a novel point mutation in the PMP22 gene, Exon 3, c.84G > T (p.Trp28Cys) and NCV in the range of 12 m/s. 2020
CMT X associated with three novel point mutations of the GJB1 gene, c.118G > A (p.Ala40Thr), c.72G > T (p. Trp24Cys), and c.793C > T (p.Arg265Cys) 2020
Two unrelated individuals with pathogenic GDAP 1 mutations c.811G > A (p.gly271arg) and GDAP1 c.358C > T (p. Arg120Trp) presenting with a mild CMT 2 K 2020

International Standard Serial Number (ISSN)

1085-9489

Electronic International Standard Serial Number (EISSN)

1529-8027

journal abbreviation

J PERIPHER NERV SYST