Literature DB >> 26502764

Inherited Neuropathies.

Vera Fridman1, M M Reilly2.   

Abstract

Hereditary neuropathies (HNs) are among the most common inherited neurologic disorders and are diverse both clinically and genetically. Recent genetic advances have contributed to a rapid expansion of identifiable causes of HN and have broadened the phenotypic spectrum associated with many of the causative mutations. The underlying molecular pathways of disease have also been better delineated, leading to the promise for potential treatments. This chapter reviews the clinical and biological aspects of the common causes of HN and addresses the challenges of approaching the diagnostic workup of these conditions in a rapidly evolving genetic landscape. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Entities:  

Mesh:

Year:  2015        PMID: 26502764     DOI: 10.1055/s-0035-1558981

Source DB:  PubMed          Journal:  Semin Neurol        ISSN: 0271-8235            Impact factor:   3.420


  6 in total

1.  Alpha-1 Antitrypsin Reduces Disease Progression in a Mouse Model of Charcot-Marie-Tooth Type 1A: A Role for Decreased Inflammation and ADAM-17 Inhibition.

Authors:  Nikolay Zhukovsky; Marianna Silvano; Thierry Filloux; Sergio Gonzalez; Karl-Heinz Krause
Journal:  Int J Mol Sci       Date:  2022-07-03       Impact factor: 6.208

Review 2.  Mechanisms and Treatments in Demyelinating CMT.

Authors:  Vera Fridman; Mario A Saporta
Journal:  Neurotherapeutics       Date:  2021-11-08       Impact factor: 6.088

3.  RFC1 expansions are a common cause of idiopathic sensory neuropathy.

Authors:  Riccardo Currò; Alessandro Salvalaggio; Stefano Tozza; Chiara Gemelli; Natalia Dominik; Valentina Galassi Deforie; Francesca Magrinelli; Francesca Castellani; Elisa Vegezzi; Pietro Businaro; Ilaria Callegari; Anna Pichiecchio; Giuseppe Cosentino; Enrico Alfonsi; Enrico Marchioni; Silvia Colnaghi; Simone Gana; Enza Maria Valente; Cristina Tassorelli; Stephanie Efthymiou; Stefano Facchini; Aisling Carr; Matilde Laura; Alexander M Rossor; Hadi Manji; Michael P Lunn; Elena Pegoraro; Lucio Santoro; Marina Grandis; Emilia Bellone; Nicholas J Beauchamp; Marios Hadjivassiliou; Diego Kaski; Adolfo M Bronstein; Henry Houlden; Mary M Reilly; Paola Mandich; Angelo Schenone; Fiore Manganelli; Chiara Briani; Andrea Cortese
Journal:  Brain       Date:  2021-06-22       Impact factor: 13.501

4.  Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

Authors:  Deborah Chiabrando; Marco Castori; Maja di Rocco; Martin Ungelenk; Sebastian Gießelmann; Matteo Di Capua; Annalisa Madeo; Paola Grammatico; Sophie Bartsch; Christian A Hübner; Fiorella Altruda; Lorenzo Silengo; Emanuela Tolosano; Ingo Kurth
Journal:  PLoS Genet       Date:  2016-12-06       Impact factor: 5.917

5.  An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.

Authors:  Danielle C Robinson; Anna E Mammel; Anne M Logan; Aubree A Larson; Eric J Schmidt; Alec F Condon; Fred L Robinson
Journal:  ASN Neuro       Date:  2018 Jan-Dec       Impact factor: 4.146

6.  Guided growth in the correction of knee deformity in patients with congenital insensitivity to pain.

Authors:  Soroush Baghdadi; Sadegh Saberi; Taghi Baghdadi
Journal:  J Orthop Surg Res       Date:  2021-03-11       Impact factor: 2.359

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.