Expanding the phenotype of

Humans Amyotrophic Lateral Sclerosis / genetics Biological Variation, Population Mutation / genetics Neurodegenerative Diseases Parkinsonian Disorders / genetics Phenotype
DNA TARDBP biomarker genetics heterogeneity inbreeding modulators oligogenic profile

Journal

Amyotrophic lateral sclerosis & frontotemporal degeneration
ISSN: 2167-9223
Titre abrégé: Amyotroph Lateral Scler Frontotemporal Degener
Pays: England
ID NLM: 101587185

Informations de publication

Date de publication:
Nov 2022
Historique:
pubmed: 7 7 2022
medline: 16 11 2022
entrez: 6 7 2022
Statut: ppublish

Résumé

We describe a Tunisian family carrier of the same rare mutation in

Identifiants

DOI: 10.1080/21678421.2022.2089856 PMID: 35793404
pubmed: 35793404
doi: 10.1080/21678421.2022.2089856
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

623-626

Auteurs

Imen Kacem (I)

Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia.
Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia.

Ikram Sghaier (I)

Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia.
Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia.

Nicola Ticozzi (N)

Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, Milan, Italy.

Saloua Mrabet (S)

Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia.
Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia.
ORCID: 0000-0003-2718-1828

Silvia Paverelli (S)

Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy.

Amina Nasri (A)

Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia.
Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia.

Antonia Ratti (A)

Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Segrate, Milan, Italy.

Mouna Ben Djebara (M)

Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia.
Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia.

Amina Gargouri-Berrachid (A)

Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia.
Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia.

Vincenzo Silani (V)

Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, Milan, Italy.
Aldo Ravelli" Center for Neurotechnology and Experimental Brain Therapeutics, Università degli Studi di Milano, Milan, Italy.
ORCID: 0000-0002-7698-3854

Riadh Gouider (R)

Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia.
Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Expanding the phenotype of
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Protéinopathies TDP-43 › Sclérose latérale amyotrophique › Expanding the phenotype of
questionsmedicales.fr › Phénomènes biologiques › Variation intra-population › Expanding the phenotype of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Expanding the phenotype of
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Expanding the phenotype of
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Troubles de la motricité › Syndromes parkinsoniens › Expanding the phenotype of
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Expanding the phenotype of