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Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease. [electronic resource] by
- Combes, Patricia
- Kammoun, Nadège
- Monnier, Aurélie
- Gonthier-Guéret, Céline
- Giraud, Geneviève
- Bertini, Enrico
- Chahnez, Triki
- Fakhfakh, Faiza
- Boespflug-Tanguy, Odile
- Vaurs-Barrière, Catherine
Producer: 20120309
In:
Annals of neurology vol. 71
Availability: No items available.
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Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort. [electronic resource] by
- Sarret, Catherine
- Rigal, Mélanie
- Vaurs-Barrière, Catherine
- Dorboz, Imen
- Eymard-Pierre, Eléonore
- Combes, Patricia
- Giraud, Geneviève
- Wanders, Ronald J A
- Afenjar, Alexandra
- Francannet, Christine
- Boespflug-Tanguy, Odile
Producer: 20120907
In:
Journal of the neurological sciences vol. 312
Availability: No items available.
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Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. [electronic resource] by
- Vaurs-Barrière, Catherine
- Deville, Marlène
- Sarret, Catherine
- Giraud, Geneviève
- Des Portes, Vincent
- Prats-Viñas, José-Maria
- De Michele, Giuseppe
- Dan, Bernard
- Brady, Angela F
- Boespflug-Tanguy, Odile
- Touraine, Renaud
Producer: 20090409
In:
Annals of neurology vol. 65
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Detection of the alternative lengthening of telomeres pathway in malignant gliomas for improved molecular diagnosis. [electronic resource] by
- Fogli, Anne
- Demattei, Marie-Véronique
- Corset, Laetitia
- Vaurs-Barrière, Catherine
- Chautard, Emmanuel
- Biau, Julian
- Kémény, Jean-Louis
- Godfraind, Catherine
- Pereira, Bruno
- Khalil, Toufik
- Grandin, Nathalie
- Arnaud, Philippe
- Charbonneau, Michel
- Verrelle, Pierre
Producer: 20180620
In:
Journal of neuro-oncology vol. 135
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Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation. [electronic resource] by
- Capri, Yline
- Friesema, Edith C H
- Kersseboom, Simone
- Touraine, Renaud
- Monnier, Aurélie
- Eymard-Pierre, Eléonore
- Des Portes, Vincent
- De Michele, Giusseppe
- Brady, Angela F
- Boespflug-Tanguy, Odile
- Visser, Theo J
- Vaurs-Barriere, Catherine
Producer: 20140127
In:
Human mutation vol. 34
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The tumoral A genotype of the MGMT rs34180180 single-nucleotide polymorphism in aggressive gliomas is associated with shorter patients' survival. [electronic resource] by
- Fogli, Anne
- Chautard, Emmanuel
- Vaurs-Barrière, Catherine
- Pereira, Bruno
- Müller-Barthélémy, Mélanie
- Court, Franck
- Biau, Julian
- Pinto, Afonso Almeida
- Kémény, Jean-Louis
- Khalil, Toufic
- Karayan-Tapon, Lucie
- Verrelle, Pierre
- Costa, Bruno Marques
- Arnaud, Philippe
Producer: 20160725
In:
Carcinogenesis vol. 37
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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. [electronic resource] by
- Grossi, Serena
- Regis, Stefano
- Biancheri, Roberta
- Mort, Matthew
- Lualdi, Susanna
- Bertini, Enrico
- Uziel, Graziella
- Boespflug-Tanguy, Odile
- Simonati, Alessandro
- Corsolini, Fabio
- Demir, Ercan
- Marchiani, Valentina
- Percesepe, Antonio
- Stanzial, Franco
- Rossi, Andrea
- Vaurs-Barrière, Catherine
- Cooper, David N
- Filocamo, Mirella
Producer: 20111018
In:
Orphanet journal of rare diseases vol. 6
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Insertion of mutant proteolipid protein results in missorting of myelin proteins. [electronic resource] by
- Vaurs-Barriere, Catherine
- Wong, Kondi
- Weibel, Thais D
- Abu-Asab, Mones
- Weiss, Michael D
- Kaneski, Christine R
- Mixon, Tong-Hui
- Bonavita, Simona
- Creveaux, Isabelle
- Heiss, John D
- Tsokos, Maria
- Goldin, Ehud
- Quarles, Richard H
- Boespflug-Tanguy, Odile
- Schiffmann, Raphael
Producer: 20040114
In:
Annals of neurology vol. 54
Availability: No items available.
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Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease. [electronic resource] by
- Ruiz, Montserrat
- Bégou, Mélina
- Launay, Nathalie
- Ranea-Robles, Pablo
- Bianchi, Patrizia
- López-Erauskin, Jone
- Morató, Laia
- Guilera, Cristina
- Petit, Bérengère
- Vaurs-Barriere, Catherine
- Guéret-Gonthier, Céline
- Bonnet-Dupeyron, Marie-Noëlle
- Fourcade, Stéphane
- Auwerx, Johan
- Boespflug-Tanguy, Odile
- Pujol, Aurora
Producer: 20190305
In:
Brain pathology (Zurich, Switzerland) vol. 28
Availability: No items available.
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