Literature DB >> 24061768

Inherited neuropathies: an update.

Anna Sagnelli1, Giuseppe Piscosquito, Davide Pareyson.   

Abstract

In this review, progress in hereditary neuropathy research published in the Journal of Neurology over the last 18 months is summarised.

Entities:  

Mesh：

Year:  2013        PMID： 24061768     DOI： 10.1007/s00415-013-7113-x

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  47 in total

1.  Hereditary neuropathy with liability to pressure palsy combined with suspected schwannomas of the peroneal and radial nerves.

Authors:  Masaki Ohyagi; Nobuo Sanjo; Takanori Yokota; Hidehiro Mizusawa
Journal:  J Neurol       Date:  2011-10-27       Impact factor: 4.849

Review 2.  Mechanisms of disease in hereditary sensory and autonomic neuropathies.

Authors:  Annelies Rotthier; Jonathan Baets; Vincent Timmerman; Katrien Janssens
Journal:  Nat Rev Neurol       Date:  2012-01-24       Impact factor: 42.937

3.  Letter to the editors: comment on "hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families".

Authors:  Masoud Shekarabi; Patrick A Dion; Guy A Rouleau
Journal:  J Neurol       Date:  2011-08-17       Impact factor: 4.849

4.  INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.

Authors:  Kentaro Toyota; Daisuke Ogino; Makiko Hayashi; Masashi Taki; Kayoko Saito; Akiko Abe; Taeko Hashimoto; Kazuo Umetsu; Hiroyasu Tsukaguchi; Kiyoshi Hayasaka
Journal:  J Peripher Nerv Syst       Date:  2013-03       Impact factor: 3.494

Review 5.  X-linked Charcot-Marie-Tooth disease.

Authors:  Steven S Scherer; Kleopas A Kleopa
Journal:  J Peripher Nerv Syst       Date:  2012-12       Impact factor: 3.494

6.  Neurological features in adult Triple-A (Allgrove) syndrome.

Authors:  Anne-Evelyne Vallet; Annie Verschueren; Philippe Petiot; Nadia Vandenberghe; Marc Nicolino; Sabine Roman; Jean Pouget; Christophe Vial
Journal:  J Neurol       Date:  2011-06-09       Impact factor: 4.849

7.  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

Authors:  Sha Tang; Elliot L Dimberg; Margherita Milone; Lee-Jun C Wong
Journal:  J Neurol       Date:  2011-10-13       Impact factor: 4.849

8.  Safety and efficacy of RNAi therapy for transthyretin amyloidosis.

Authors:  Teresa Coelho; David Adams; Ana Silva; Pierre Lozeron; Philip N Hawkins; Timothy Mant; Javier Perez; Joseph Chiesa; Steve Warrington; Elizabeth Tranter; Malathy Munisamy; Rick Falzone; Jamie Harrop; Jeffrey Cehelsky; Brian R Bettencourt; Mary Geissler; James S Butler; Alfica Sehgal; Rachel E Meyers; Qingmin Chen; Todd Borland; Renta M Hutabarat; Valerie A Clausen; Rene Alvarez; Kevin Fitzgerald; Christina Gamba-Vitalo; Saraswathy V Nochur; Akshay K Vaishnaw; Dinah W Y Sah; Jared A Gollob; Ole B Suhr
Journal:  N Engl J Med       Date:  2013-08-29       Impact factor: 91.245

9.  Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Authors:  Annelies Rotthier; Jonathan Baets; Els De Vriendt; An Jacobs; Michaela Auer-Grumbach; Nicolas Lévy; Nathalie Bonello-Palot; Sara Sebnem Kilic; Joachim Weis; Andrés Nascimento; Marielle Swinkels; Moyo C Kruyt; Albena Jordanova; Peter De Jonghe; Vincent Timmerman
Journal:  Brain       Date:  2009-08-03       Impact factor: 13.501

10.  Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Authors:  Matthis Synofzik; Anne S Soehn; Janina Gburek-Augustat; Julia Schicks; Kathrin N Karle; Rebecca Schüle; Tobias B Haack; Martin Schöning; Saskia Biskup; Sabine Rudnik-Schöneborn; Jan Senderek; Karl-Titus Hoffmann; Patrick MacLeod; Johannes Schwarz; Benjamin Bender; Stefan Krüger; Friedmar Kreuz; Peter Bauer; Ludger Schöls
Journal:  Orphanet J Rare Dis       Date:  2013-03-15       Impact factor: 4.123
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  2 in total

1.  Systemic sclerosis and hereditary motor and sensory neuropathy: An uncommon combination.

Authors:  Pradeepa Prabakaran; Roshni Kakitha; Ambujam Sreedevi
Journal:  Indian J Dermatol Venereol Leprol       Date:  2021 [SEASON]       Impact factor: 2.545

2.  Transcriptome Analysis of Chemically-Induced Sensory Neuron Ablation in Zebrafish.

Authors:  Jane A Cox; Bo Zhang; Holly M Pope; Mark M Voigt
Journal:  PLoS One       Date:  2016-02-10       Impact factor: 3.240
  2 in total

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