Literature DB >> 31787464

Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurologic phenotype.

Gaia Scarpini1, Carlotta Spagnoli2, Grazia Gabriella Salerno2, Susanna Rizzi2, Daniele Frattini2, Carlo Fusco2.   

Abstract

Entities:  

Keywords:  HINT1; Mood disorder; Neuromyotonia; Neuropathy

Mesh：

Substances：

Year:  2019        PMID： 31787464     DOI： 10.1016/j.nmd.2019.05.001

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  6 in total

1.  HINT1 neuropathy in Norway: clinical, genetic and functional profiling.

Authors:  Silvia Amor-Barris; Helle Høyer; Albena Jordanova; Geir J Braathen; Kristien Peeters; Lin V Brauteset; Els De Vriendt; Linda Strand
Journal:  Orphanet J Rare Dis       Date:  2021-03-04       Impact factor: 4.123

2.  Myasthenia gravis coexisting with HINT1-related motor axonal neuropathy without neuromyotonia: a case report.

Authors:  Jia Fang; Hui Huang; Qiang Lei; Yingying Luo; Zhengchu Tang; Xiaoliu Shi; Jian Guang Tang
Journal:  BMC Neurol       Date:  2022-05-03       Impact factor: 2.474

3.  HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.

Authors:  Matilde Malcorps; Silvia Amor-Barris; Birute Burnyte; Albena Jordanova; Kristien Peeters; Ramune Vilimiene; Camila Armirola-Ricaurte; Kristina Grigalioniene; Alexandra Ekshteyn; Ausra Morkuniene; Arunas Vaitkevicius; Els De Vriendt; Jonathan Baets; Steven S Scherer; Laima Ambrozaityte; Algirdas Utkus
Journal:  Orphanet J Rare Dis       Date:  2022-10-14       Impact factor: 4.303

4.  Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors.

Authors:  Suzy Varderidou-Minasian; Lisa Hinz; Dominique Hagemans; Danielle Posthuma; Maarten Altelaar; Vivi M Heine
Journal:  Mol Autism       Date:  2020-05-27       Impact factor: 7.509

5.  Rare among Rare: Phenotypes of Uncommon CMT Genotypes.

Authors:  Luca Gentile; Massimo Russo; Federica Taioli; Moreno Ferrarini; M'Hammed Aguennouz; Carmelo Rodolico; Antonio Toscano; Gian Maria Fabrizi; Anna Mazzeo
Journal:  Brain Sci       Date:  2021-12-08

6.  HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.

Authors:  Bianca de Aguiar Coelho Silva Madeiro; Kristien Peeters; Elker Lene Santos de Lima; Silvia Amor-Barris; Els De Vriendt; Albena Jordanova; Maria Tereza Cartaxo Muniz; Carolina da Cunha Correia
Journal:  Mol Genet Genomic Med       Date:  2021-09-25       Impact factor: 2.183
  6 in total

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