Literature DB >> 33123922

Spinocerebellar ataxia type 48: last but not least.

José Gazulla1.   

Abstract

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Year:  2020        PMID： 33123922     DOI： 10.1007/s10072-020-04811-w

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  3 in total

Review 1.  Spinocerebellar ataxia type 48: last but not least.

Authors:  Giovanna De Michele; Daniele Galatolo; Melissa Barghigiani; Diletta Dello Iacovo; Rosanna Trovato; Alessandra Tessa; Elena Salvatore; Alessandro Filla; Giuseppe De Michele; Filippo M Santorelli
Journal:  Neurol Sci       Date:  2020-04-27       Impact factor: 3.307

2.  Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).

Authors:  David Genis; Sara Ortega-Cubero; Hector San Nicolás; Jordi Corral; Josep Gardenyes; Laura de Jorge; Eva López; Berta Campos; Elena Lorenzo; Raúl Tonda; Sergi Beltran; Montserrat Negre; María Obón; Brigitte Beltran; Laura Fàbregas; Berta Alemany; Fabián Márquez; Lluís Ramió-Torrentà; Jordi Gich; Víctor Volpini; Pau Pastor
Journal:  Neurology       Date:  2018-10-31       Impact factor: 9.910

3.  Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16.

Authors:  José Gazulla; Silvia Izquierdo-Alvarez; Esther Sierra-Martínez; María Eugenia Marta-Moreno; Sara Alvarez
Journal:  Neurol Sci       Date:  2018-09-11       Impact factor: 3.307
  3 in total

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