Zobrazeno 1 - 10
of 264
pro vyhledávání: '"Odile, Boespflug-Tanguy"'
Autor:
Caroline Sevin, Samira Hatteb, Aurore Clément, Fabrizia Bignami, Louis Chillotti, Françoise Bugnard, Stève Bénard, Odile Boespflug-Tanguy
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
Abstract Background X-linked adrenoleukodystrophy (ALD) is a rare metabolic and neurodegenerative disorder belonging to the group of leukodystrophies, with an estimated incidence around 1:25 000 newborns worldwide, mostly among men. Childhood Cerebra
Externí odkaz:
https://doaj.org/article/1e243f7953fe490cb442d887c0049fbe
Autor:
Nathalie Launay, Montserrat Ruiz, Laura Planas-Serra, Edgard Verdura, Agustí Rodríguez-Palmero, Agatha Schlüter, Leire Goicoechea, Cristina Guilera, Josefina Casas, Felix Campelo, Emmanuelle Jouanguy, Jean-Laurent Casanova, Odile Boespflug-Tanguy, Maria Vazquez Cancela, Luis González Gutiérrez-Solana, Carlos Casasnovas, Estela Area-Gomez, Aurora Pujol
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 14 (2023)
The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF). Here, we describe 3 individuals from 2 unrelate
Externí odkaz:
https://doaj.org/article/acc98cdd521c4feb9a2e50e1be116f80
Autor:
Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Arwa Babai, Iman Elbadi, Doua Mustafa, Rayan Abubaker, Mohamed Mustafa, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-5 (2022)
Abstract Background The etiology of intellectual disabilities is diverse and includes both genetic and environmental factors. The genetic causes of intellectual disabilities range from chromosomal aberrations to single gene disorders. The TRAPPC9 gen
Externí odkaz:
https://doaj.org/article/f46e6638b38a4340af6381da3127577b
Autor:
Sophie Boursange, Marco Araneda, Caroline Stalens, Isabelle Desguerre, Christine Barnerias, Marie-Christine Nougues, Arnaud Isapof, Susana Quijano-Roy, Nadia Blu Genestine, Laetitia Ouillade, Maripaz Martinez Jalilie, Claudia Castiglioni, Odile Boespflug-Tanguy, Marcela Gargiulo, The SMAPAR Study Group
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundSMA type 1 is a severe neurodegenerative disorder that, in the absence of curative treatment, leads to death before 1 year of age without ventilatory support. Three innovative therapies are available to increase life expectancy.Purpose(i) T
Externí odkaz:
https://doaj.org/article/82dca8f183e8483996df84ab454d708a
Autor:
Mutaz Amin, Cedric Vignal, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Rayan Abubaker, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Pontocerebellar hypoplasia type 10 (PCH10) is a very rare autosomal recessive neurodegenerative disease characterized by intellectual disability, microcephaly, severe developmental delay, pyramidal signs, mild cerebellar atrophy, and white matter cha
Externí odkaz:
https://doaj.org/article/1cd975adeba04a9c92e4e4580aa75855
Autor:
Aurélien Trimouille, Florent Marguet, Fanny Sauvestre, Eulalie Lasseaux, Fanny Pelluard, Marie-Laure Martin-Négrier, Claudio Plaisant, Caroline Rooryck, Didier Lacombe, Benoît Arveiler, Odile Boespflug-Tanguy, Sophie Naudion, Annie Laquerrière
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-7 (2020)
Abstract Bi-allelic pathogenic variants in genes of the EIF2B family are responsible for Childhood Ataxia with Central nervous system Hypomyelination/Vanishing White Matter disease, a progressive neurodegenerative disorder of the central white matter
Externí odkaz:
https://doaj.org/article/8c691012645f42059f22d1f2c7825268
Autor:
Guy Khalaf, Claudia Mattern, Mélina Begou, Odile Boespflug-Tanguy, Charbel Massaad, Liliane Massaad-Massade
Publikováno v:
Biomedicines, Vol 10, Iss 7, p 1709 (2022)
Pelizaeus–Merzbacher Disease (PMD) is an inherited leukodystrophy affecting the central nervous system (CNS)—a rare disorder that especially concerns males. Its estimated prevalence is 1.45–1.9 per 100,000 individuals in the general population.
Externí odkaz:
https://doaj.org/article/5e20e7ca452f460d97555da82facb8f1
Autor:
Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-4 (2019)
Background: KIF1C (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia. Case report: We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a h
Externí odkaz:
https://doaj.org/article/a5ae91c4916e48d8b9c2cb4b79ca94dc
Autor:
Ichraf Kraoua, Adnane Karkar, Cyrine Drissi, Hanene Benrhouma, Hedia Klaa, Simon Samaan, Florence Renaldo, Monique Elmaleh, Mohamed Ben Hamouda, Sonia Abdelhak, Odile Boespflug‐Tanguy, Ilfghem Ben Youssef‐Turki, Imen Dorboz
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Introduction RNA polymerase III (Pol III)‐related leukodystrophies are a group of autosomal recessive neurodegenerative disorders caused by mutations in POLR3A and POLR3B. Recently a recessive mutation in POLR1C causative of Pol III‐rela
Externí odkaz:
https://doaj.org/article/871d5ae0d1a844b1a34b8a79f7458804
Autor:
Justine Lerat, Corinne Magdelaine, Anne‐Françoise Roux, Léa Darnaud, Hélène Beauvais‐Dzugan, Steven Naud, Laurence Richard, Paco Derouault, Karima Ghorab, Laurent Magy, Jean‐Michel Vallat, Pascal Cintas, Eric Bieth, Marie‐Christine Arne‐Bes, Cyril Goizet, Caroline Espil‐Taris, Hubert Journel, Annick Toutain, Jon Andoni Urtizberea, Odile Boespflug‐Tanguy, Fanny Laffargue, Philippe Corcia, Laurent Pasquier, Mélanie Fradin, Sylva Napuri, Jonathan Ciron, Jean‐Marc Boulesteix, Franck Sturtz, Anne‐Sophie Lia
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background The most common inherited peripheral neuropathy is Charcot‐Marie‐Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairmen
Externí odkaz:
https://doaj.org/article/fdb0f976071c48fd91636d29f0c9cf51