Literature DB >> 25219579

BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome.

Ana Monteiro1, Raquel Real, Goreti Nadais, Fernando Silveira, Miguel Leão.   

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Year:  2015        PMID： 25219579     DOI： 10.1002/mus.24455

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  3 in total

1.  ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.

Authors:  Thomas Musacchio; Ann-Kathrin Zaum; Nurcan Üçeyler; Claudia Sommer; Nora Pfeifroth; Karlheinz Reiners; Erdmute Kunstmann; Jens Volkmann; Simone Rost; Stephan Klebe
Journal:  J Neurol       Date:  2016-10-13       Impact factor: 4.849

2.  A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement.

Authors:  Joana Ramos-Lopes; Joana Ribeiro; Mário Laço; Cristina Alves; Anabela Matos; Cármen Costa
Journal:  J Pediatr Genet       Date:  2020-07-08

3.  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
  3 in total

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