A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism
J Mov Disord
.
2024 Apr;17(2):236-238.
doi: 10.14802/jmd.23222.
Epub 2024 Jan 23.
Authors
Giulia Di Rauso
1
2
3
,
Francesco Cavallieri
3
,
Edoardo Monfrini
4
5
,
Alessandro Fraternali
6
,
Valentina Fioravanti
3
,
Sara Grisanti
7
,
Annalisa Gessani
2
,
Isabella Campanini
8
,
Andrea Merlo
8
,
Giulia Toschi
3
,
Manuela Napoli
9
,
Rosario Pascarella
9
,
Rosamaria Silipigni
10
,
Palma Finelli
10
11
,
Jefri J Paul
12
,
Peter Bauer
12
,
Annibale Versari
6
,
Alessio Di Fonzo
5
,
Franco Valzania
3
Affiliations
1
Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
2
Neurology, Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy.
3
Neurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
4
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
5
Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
6
Nuclear Medicine Unit, Azienda Unità Sanitaria Locale-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
7
Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, Modena, Italy.
8
LAM-Motion Analysis Laboratory, Neuromotor and Rehabilitation Department, AUSL-IRCCS Reggio Emilia, Reggio Emilia, Italy.
9
Neuroradiology Unit, Radiology Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
10
Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
11
Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate, Milan, Italy.
12
CENTOGENE GmbH, Rostock, Germany.
PMID:
38258373
PMCID:
PMC11082610
DOI:
10.14802/jmd.23222
No abstract available
Grants and funding
Italian Ministry of Health