Top

Neurogenetics

Published in:

01-04-2020 | Letter to Editor

Reply to letter to the editor by De Michele et al

Author: A. Nazli Basak

Published in: Neurogenetics | Issue 2/2020

Excerpt

Dear Editor, …

Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torrentà L, Gich J, Volpini V, Pastor P (2018) Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). Neurology 91:e1988–e1998. https://doi.org/10.1212/WNL.0000000000006550 CrossRefPubMed

Palvadeau R, Kaya-Güleç ZE, Şimşir G, Vural A, Öztop-Çakmak Ö, Genç G, Aygün MS, Falay O, Başak AN, Ertan S (2020) Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. Neurogenetics 21:51–58. https://doi.org/10.1007/s10048-019-00595-0 CrossRefPubMed

De Michele G, Lieto M, Galatolo D, Salvatore E, Cocozza S, Barghigiani M, Tessa A, Baldacci J, Pappatà S, Filla A, De Michele G, Santorelli FM (2019) Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: a report of two Italian families. Parkinsonism Relat Disord. https://doi.org/10.1016/j.parkreldis.2019.05.001 CrossRef

Lieto M, Riso V, Galatolo D, De Michele G, Rossi S, Barghigiani M, Cocozza S, Pontillo G, Trovato R, Saccà F, Salvatore E, Tessa A, Filla A, Santorelli FM, De Michele G, Silvestri G (2019) The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. Eur J Neurol. https://doi.org/10.1111/ene.14094 CrossRefPubMed

Title: Reply to letter to the editor by De Michele et al
Author: A. Nazli Basak
Publication date: 01-04-2020
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 2/2020
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-020-00604-7

At a glance: The STEP trials

Springer Medicine

Reply to letter to the editor by De Michele et al

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 2/2020

Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype

Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

POLR3A variants with striatal involvement and extrapyramidal movement disorder

Of cognition and cerebellum in SCA48