Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Pascal Laforêt; Michio Inoue; Evelyne Goillot; Claire Lefeuvre; Umut Cagin; Nathalie Streichenberger; Sarah Léonard-Louis; Guy Brochier; Angéline Madelaine; Clémence Labasse; Carola Hedberg-Oldfors; Thomas O Krag; Louisa Jauze; Julien Fabregue; Philippe Labrune; José Milisenda; Aleksandra Nadaj-Pakleza; Sabrina Sacconi; Federico Mingozzi; Giuseppe Ronzitti; François Petit; Benedikt Schoser; Anders Oldfors; John Vissing; Norma Beatriz Romero; Ichizo Nishino; Edoardo Malfatti

doi:10.1186/s40478-019-0815-2

Journal Articles Acta Neuropathologica Communications Year : 2019

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

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Pascal Laforêt

Function : Author

CHU Pitié-Salpêtrière [AP-HP]

Michio Inoue

Function : Author

Evelyne Goillot

Function : Author

Institut NeuroMyoGène

Claire Lefeuvre

Function : Author

AGROCAMPUS OUEST

Umut Cagin

Function : Author

Nathalie Streichenberger

Function : Author

Institut NeuroMyoGène

Sarah Léonard-Louis

Function : Author

Institut de Myologie

Guy Brochier

Function : Author

CHU Pitié-Salpêtrière [AP-HP]

Angéline Madelaine

Function : Author
PersonId : 955954

Institut de Myologie

Clémence Labasse

Function : Author

Institut de Myologie

Carola Hedberg-Oldfors

Function : Author

Thomas O Krag

Function : Author

Rigshospitalet [Copenhagen]

Louisa Jauze

Function : Author
PersonId : 797746
ORCID : 0000-0002-9474-6377

Nutrition, diabète et cerveau

Julien Fabregue

Function : Author

Philippe Labrune

Function : Author

Centre de Référence Maladies Héréditaires du Métabolisme Hépatique

José Milisenda

Function : Author

CIBER de Enfermedades Raras (CIBERER)

Aleksandra Nadaj-Pakleza

Function : Author

Centre de référence des maladies rares neuromusculaires

Sabrina Sacconi

Function : Author

COMUE Université Côte d'Azur (2015-2019)

Federico Mingozzi

Function : Author
PersonId : 775669
ORCID : 0000-0003-0685-3752

Centre de recherche en Myologie – U974 SU-INSERM

Giuseppe Ronzitti

Function : Author
PersonId : 753964
IdHAL : giuseppe-ronzitti
ORCID : 0000-0002-9184-0210
IdRef : 26470309X

Approches génétiques intégrées et nouvelles thérapies pour les maladies rares

CV

François Petit

Function : Author
PersonId : 960844

Université de Bordeaux

Benedikt Schoser

Function : Author

Anders Oldfors

Function : Author

John Vissing

Function : Author
PersonId : 908621

University of Copenhagen = Københavns Universitet

Norma Beatriz Romero

Function : Author

CHU Pitié-Salpêtrière [AP-HP]

Ichizo Nishino

Function : Author

Edoardo Malfatti

Function : Author

Domains

Life Sciences [q-bio] Human health and pathology Tissues and Organs [q-bio.TO]

Fichier principal

document_16_.pdf (2.27 Mo)

Origin	Publisher files allowed on an open archive

Giuseppe Ronzitti : Connect in order to contact the contributor

https://hal.science/hal-02414161

Submitted on : Tuesday, December 5, 2023-3:57:41 PM

Last modification on : Thursday, January 9, 2025-3:44:49 AM

Dates and versions

hal-02414161 , version 1 (05-12-2023)

Identifiers

HAL Id : hal-02414161 , version 1
DOI : 10.1186/s40478-019-0815-2
PUBMEDCENTRAL : PMC6819650

Cite

Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, et al.. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment. Acta Neuropathologica Communications, 2019, 7 (1), ⟨10.1186/s40478-019-0815-2⟩. ⟨hal-02414161⟩

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Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

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