Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations

Luca Magistrelli; Elena Contaldi; Beatrice Piola; Fjorilda Caushi; Miryam Carecchio; Sandra D'Alfonso; Lucia Corrado

doi:10.1002/mdc3.14124

Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations

Luca Magistrelli
, Elena Contaldi
, Beatrice Piola
, Fjorilda Caushi
, Miryam Carecchio
, Sandra D'Alfonso
, Lucia Corrado

Dipartimento di Scienze della Salute

Risultato della ricerca: Contributo su rivista › Lettera › peer review

Lingua originale	Inglese
pagine (da-a)	1047-1048
Numero di pagine	2
Rivista	Movement Disorders Clinical Practice
Volume	11
Numero di pubblicazione	8
DOI	https://doi.org/10.1002/mdc3.14124
Stato di pubblicazione	Pubblicato - ago 2024

Accesso al documento

10.1002/mdc3.14124

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Link to publication in Scopus

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@article{cd65714fe7074e0dba2f96d7a24bfbf8,

title = "Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations",

keywords = "GNAL mutation, cognitive disability, generalized dystonia, pediatric dystonia",

author = "Luca Magistrelli and Elena Contaldi and Beatrice Piola and Fjorilda Caushi and Miryam Carecchio and Sandra D'Alfonso and Lucia Corrado",

year = "2024",

month = aug,

doi = "10.1002/mdc3.14124",

language = "English",

volume = "11",

pages = "1047--1048",

journal = "Movement Disorders Clinical Practice",

issn = "2330-1619",

publisher = "John Wiley and Sons Ltd",

number = "8",

}

TY - JOUR

T1 - Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations

AU - Magistrelli, Luca

AU - Contaldi, Elena

AU - Piola, Beatrice

AU - Caushi, Fjorilda

AU - Carecchio, Miryam

AU - D'Alfonso, Sandra

AU - Corrado, Lucia

PY - 2024/8

Y1 - 2024/8

KW - GNAL mutation

KW - cognitive disability

KW - generalized dystonia

KW - pediatric dystonia

UR - https://www.scopus.com/pages/publications/85195566674

U2 - 10.1002/mdc3.14124

DO - 10.1002/mdc3.14124

M3 - Letter

SN - 2330-1619

VL - 11

SP - 1047

EP - 1048

JO - Movement Disorders Clinical Practice

JF - Movement Disorders Clinical Practice

IS - 8

ER -