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Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. [electronic resource] by
- Rudolf, Gabrielle
- Suominen, Tiina
- Penttilä, Sini
- Hackman, Peter
- Evilä, Anni
- Lannes, Béatrice
- Echaniz-Laguna, Andoni
- Bierry, Guillaume
- Tranchant, Christine
- Udd, Bjarne
Producer: 20180315
In:
Journal of neuromuscular diseases vol. 3
Availability: No items available.
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No evidence for genetic association between glutamate transporter EAAT2 and Devic's neuromyelitis optica in caucasians and afro-caribbeans. [electronic resource] by
- Hanoux, Vincent
- Coulbault, Laurent
- Derache, Nathalie
- Cabre, Philippe
- De Seze, Jérôme
- Marignier, Romain
- Rudolf, Gabrielle
- Emmanuelle Dugué, Audrey
- Allouche, Stéphane
- Defer, Gilles
Producer: 20150417
In:
Multiple sclerosis and related disorders vol. 3
Availability: No items available.
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Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. [electronic resource] by
- Roll, Patrice
- Vernes, Sonja C
- Bruneau, Nadine
- Cillario, Jennifer
- Ponsole-Lenfant, Magali
- Massacrier, Annick
- Rudolf, Gabrielle
- Khalife, Manal
- Hirsch, Edouard
- Fisher, Simon E
- Szepetowski, Pierre
Producer: 20110307
In:
Human molecular genetics vol. 19
Availability: No items available.
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Landau-Kleffner syndrome is not an eponymic badge of ignorance. [electronic resource] by
- Hirsch, Edouard
- Valenti, Maria Paola
- Rudolf, Gabrielle
- Seegmuller, Caroline
- de Saint Martin, Anne
- Maquet, Pierre
- Wioland, Norma
- Metz-Lutz, Marie-Noëlle
- Marescaux, Christian
- Arzimanoglou, Alexis
Producer: 20061026
In:
Epilepsy research vol. 70 Suppl 1
Availability: No items available.
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Anti-MOG antibodies are present in a subgroup of patients with a neuromyelitis optica phenotype. [electronic resource] by
- Pröbstel, Anne-Katrin
- Rudolf, Gabrielle
- Dornmair, Klaus
- Collongues, Nicolas
- Chanson, Jean-Baptiste
- Sanderson, Nicholas S R
- Lindberg, Raija L P
- Kappos, Ludwig
- de Seze, Jérôme
- Derfuss, Tobias
Producer: 20160307
In:
Journal of neuroinflammation vol. 12
Availability: No items available.
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Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification. [electronic resource] by
- Nicolas, Gaël
- Richard, Anne-Claire
- Pottier, Cyril
- Verny, Christophe
- Durif, Franck
- Roze, Emmanuel
- Favrole, Pascal
- Rudolf, Gabrielle
- Anheim, Mathieu
- Tranchant, Christine
- Frebourg, Thierry
- Campion, Dominique
- Hannequin, Didier
Producer: 20150226
In:
Neurogenetics vol. 15
Availability: No items available.
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Mutations of DEPDC5 cause autosomal dominant focal epilepsies. [electronic resource] by
- Ishida, Saeko
- Picard, Fabienne
- Rudolf, Gabrielle
- Noé, Eric
- Achaz, Guillaume
- Thomas, Pierre
- Genton, Pierre
- Mundwiller, Emeline
- Wolff, Markus
- Marescaux, Christian
- Miles, Richard
- Baulac, Michel
- Hirsch, Edouard
- Leguern, Eric
- Baulac, Stéphanie
Producer: 20130618
In:
Nature genetics vol. 45
Availability: No items available.
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Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders. [electronic resource] by
- Montaut, Solveig
- Tranchant, Christine
- Drouot, Nathalie
- Rudolf, Gabrielle
- Guissart, Claire
- Tarabeux, Julien
- Stemmelen, Tristan
- Velt, Amandine
- Fourrage, Cécile
- Nitschké, Patrick
- Gerard, Bénédicte
- Mandel, Jean-Louis
- Koenig, Michel
- Chelly, Jamel
- Anheim, Mathieu
Producer: 20191008
In:
JAMA neurology vol. 75
Availability: No items available.
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