Associated Papers
Real-life experience with disease-modifying drugs in hereditary transthyretin amyloid polyneuropathy: A clinical and electrophysiological appraisal.
Rebouh H et al.
European Journal of Neurology, 2025
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
Misra K et al.
International Journal of Molecular Sciences, 2024
Quantification of muscle involvement in familial amyloid polyneuropathy using MRI.
Durelle C et al.
European Journal of Neurology, 2023
Hereditary neuropathies: A pathological perspective.
Cavallaro T et al.
Journal of the Peripheral Nervous System : Jpns, 2021
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags.
Campagnolo M et al.
Journal of the Peripheral Nervous System : Jpns, 2020
A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.
Benquey T et al.
Journal of Neuromuscular Diseases, 2020
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E et al.
American Journal of Human Genetics, 2019
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies.
Vita G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
Schwann cells contribute to neurodegeneration in transthyretin amyloidosis.
Murakami T et al.
Journal of Neurochemistry, 2015
Examination and clinical care of the patient with neuropathy.
Said G
Handbook of Clinical Neurology, 2013
Electrophysiological features of late-onset transthyretin Met30 familial amyloid polyneuropathy unrelated to endemic foci.
Koike H et al.
Journal of Neurology, 2008
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.
Chance PF
Neuromolecular Medicine, 2006
A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.
Zéphir H et al.
Neuromuscular Disorders : Nmd, 2005
De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.
Kochański A et al.
Acta Biochimica Polonica, 2004
Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases.
Shames I et al.
Journal of Neuropathology and Experimental Neurology, 2003
HNPP due to a novel missense mutation of the PMP22 gene.
Nodera H et al.
Neurology, 2003
[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].
Pou Serradell A et al.
Revue Neurologique, 2002
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.
Meuleman J et al.
Neuromuscular Disorders : Nmd, 2001
Association studies of Parkinson's disease and parkin polymorphisms.
Klein C et al.
Annals of Neurology, 2000
Hereditary recurrent focal neuropathies: clinical and molecular features.
Stögbauer F et al.
Neurology, 2000
Abnormal Schwann Cell-Axon Interactions in CMT Neuropathies: The Effects of Mutant Schwann Cells on the Axonal Cytoskeleton and Regeneration-Associated Myelination.
Sahenk Z
Annals of the New York Academy of Sciences, 1999
Abnormal Schwann cell-axon interactions in CMT neuropathies. The effects of mutant Schwann cells on the axonal cytoskeleton and regeneration-associated myelination.
Sahenk Z
Annals of the New York Academy of Sciences, 1999
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
Kovach MJ et al.
American Journal of Human Genetics, 1999
A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts.
Sahenk Z et al.
Neurology, 1998
Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts.
Sahenk Z et al.
Journal of Neuroscience Research, 1998