A pathogenic variant in the

Birt–Hogg–Dubé (BHD) FLCN autophagy dementia folliculin methionine

Journal

Frontiers in neuroscience
ISSN: 1662-4548
Titre abrégé: Front Neurosci
Pays: Switzerland
ID NLM: 101478481

Informations de publication

Date de publication:
2023
Historique:
received: 28 09 2023
accepted: 08 12 2023
medline: 22 1 2024
pubmed: 22 1 2024
entrez: 22 1 2024
Statut: epublish

Résumé

Folliculin, encoded by We report a 74-years-old woman diagnosed with dementia and carrying a The

Identifiants

DOI: 10.3389/fnins.2023.1304080 PMID: 38249578 PMC: PMC10796570
pubmed: 38249578
doi: 10.3389/fnins.2023.1304080
pmc: PMC10796570
doi:

Types de publication

Journal Article

Langues

eng

Pagination

1304080

Informations de copyright

Copyright © 2024 Bottillo, Laino, Azzarà, Lintas, Cassano, Di Lazzaro, Ursini, Motolese, Bargiacchi, Formicola, Grammatico and Gurrieri.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

Auteurs

Irene Bottillo (I)

Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.

Luigi Laino (L)

Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.

Alessia Azzarà (A)

Research Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.

Carla Lintas (C)

Research Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.

Ilaria Cassano (I)

Research Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.

Vincenzo Di Lazzaro (V)

Department of Medicine and Surgery, Unit of Neurology, Neurophysiology, Neurobiology and Psychiatry, Università Campus Bio-Medico di Roma, Rome, Italy.
Unit of Neurology, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.

Francesca Ursini (F)

Unit of Neurology, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.

Francesco Motolese (F)

Department of Medicine and Surgery, Unit of Neurology, Neurophysiology, Neurobiology and Psychiatry, Università Campus Bio-Medico di Roma, Rome, Italy.
Unit of Neurology, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.

Simone Bargiacchi (S)

Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.

Daniela Formicola (D)

Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.

Paola Grammatico (P)

Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.

Fiorella Gurrieri (F)

Research Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.
Operative Research Unit of Medical Genetics, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.

Classifications MeSH