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Interictal Paroxysmal Epileptic Discharges during Sleep in Childhood: Phenotypic Variability in a Family.
Published in:
Epilepsia (Series 4), 2003, v. 44, n. 6, p. 864, doi. 10.1046/j.1528-1157.2003.41002.x
By:
- Roubertie, Agathe;
- Humbertclaude, Véronique;
- Rivier, François;
- Cheminal, Renée;
- Echenne, Bernard
Publication type:
Article
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
Published in:
2018
By:
- Humbertclaude, Véronique;
- Krams, Benjamin;
- Nogue, Erika;
- Nagot, Nicolas;
- Annequin, Daniel;
- Tourniaire, Barbara;
- Tournier‐Lasserve, Elisabeth;
- Riant, Florence;
- Roubertie, Agathe;
- Echenne, Bernard;
- Nguyen, Marie‐Ange;
- Doummar, Diane;
- Milh, Mathieu;
- Napuri, Silvia;
- Lion‐François, Laurence;
- Tardieu, Marc;
- Cheuret, Emmanuel;
- Spitz, Marie‐Aude;
- Saint Martin, Anne;
- Dubois, Fanny
Publication type:
journal article
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1096, doi. 10.1038/ejhg.2012.51
By:
- Ishmukhametova, Aliya;
- Van Kien, Philippe Khau;
- Méchin, Déborah;
- Thorel, Delphine;
- Vincent, Marie-Claire;
- Rivier, François;
- Coubes, Christine;
- Humbertclaude, Véronique;
- Claustres, Mireille;
- Tuffery-Giraud, Sylvie
Publication type:
Article
Early Hemispherectomy in a Case of Hemimegalencephaly.
Published in:
Pediatric Neurosurgery, 1997, v. 27, n. 5, p. 268, doi. 10.1159/000121265
By:
- Humbertclaude, Véronique T.;
- Coubes, Philippe A.;
- Robain, Olivier;
- Echenne, Bernard B.
Publication type:
Article
FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 565, doi. 10.1002/acn3.51005
By:
- Piarroux, Julie;
- Riant, Florence;
- Humbertclaude, Véronique;
- Remerand, Ganaelle;
- Hadjadj, Jessica;
- Rejou, Franck;
- Coubes, Christine;
- Pinson, Lucile;
- Meyer, Pierre;
- Roubertie, Agathe
Publication type:
Article
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Published in:
2009
By:
- Tuffery-Giraud, Sylvie;
- Béroud, Christophe;
- Leturcq, France;
- Yaou, Rabah Ben;
- Hamroun, Dalil;
- Michel-Calemard, Laurence;
- Moizard, Marie-Pierre;
- Bernard, Rafaëlle;
- Cossée, Mireille;
- Boisseau, Pierre;
- Blayau, Martine;
- Creveaux, Isabelle;
- Guiochon-Mantel, Anne;
- de Martinville, Bérengère;
- Philippe, Christophe;
- Monnier, Nicole;
- Bieth, Eric;
- Van Kien, Philippe Khau;
- Desmet, François-Olivier;
- Humbertclaude, Véronique
Publication type:
Other
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
Published in:
Human Mutation, 2007, v. 28, n. 2, p. 196, doi. 10.1002/humu.20428
By:
- Béroud, Christophe;
- Tuffery-Giraud, Sylvie;
- Matsuo, Masafumi;
- Hamroun, Dalil;
- Humbertclaude, Véronique;
- Monnier, Nicole;
- Moizard, Marie-Pierre;
- Voelckel, Marie-Antoinette;
- Calemard, Laurence Michel;
- Boisseau, Pierre;
- Blayau, Martine;
- Philippe, Christophe;
- Cossée, Mireille;
- Pagès, Michel;
- Rivier, François;
- Danos, Olivier;
- Garcia, Luis;
- Claustres, Mireille
Publication type:
Article

Found: 7

Interictal Paroxysmal Epileptic Discharges during Sleep in Childhood: Phenotypic Variability in a Family.

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.

Early Hemispherectomy in a Case of Hemimegalencephaly.

FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.