A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A ; volume:270 ; number:10 ; day:7 ; month:7 ; year:2023 ; pages:5057-5063 ; date:10.2023
Journal of neurology ; 270, Heft 10 (7.7.2023), 5057-5063, 10.2023

Creator: Torella, Annalaura
Ricca, Ivana
Piluso, Giulio
Galatolo, Daniele
Michele, Giuseppe De
Zanobio, Mariateresa
Trovato, Rosanna
Michele, Giovanna De
Zeuli, Roberta
Pane, Chiara
Cocozza, Sirio
Saccà, Francesco
Santorelli, Filippo M.
Nigro, Vincenzo
Filla, Alessandro

Contributor: SpringerLink (Online service)

DOI: 10.1007/s00415-023-11816-w

URN: urn:nbn:de:101:1-2023120809585628239954

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:33 AM CEST

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Associated

Torella, Annalaura
Ricca, Ivana
Piluso, Giulio
Galatolo, Daniele
Michele, Giuseppe De
Zanobio, Mariateresa
Trovato, Rosanna
Michele, Giovanna De
Zeuli, Roberta
Pane, Chiara
Cocozza, Sirio
Saccà, Francesco
Santorelli, Filippo M.
Nigro, Vincenzo
Filla, Alessandro
SpringerLink (Online service)

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A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A

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Other Objects (12)

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Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia

Novel cacna1a variant p.cys256phe disrupts disulfide bonds and causes spinocerebellar ataxia

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

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

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