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Journal of Medical Genetics
|
October 9, 2010
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing
Karen Gaudon, Isabelle Pénisson-Besnier, Brigitte Chabrol, et al.
Annals of Neurology
|
June 23, 2015
CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy
Godelieve Morel, Cécile Rouzier, Annabelle Chaussenot, et al.
Brain : a Journal of Neurology
|
December 23, 2011
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, et al.
Orphanet Journal of Rare Diseases
|
February 22, 2022
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey
Delphine Genevaz, Armelle Arnoux, Catherine Marcel, et al.
Orphanet Journal of Rare Diseases
|
September 25, 2016
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
Marie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, et al.
Neurology
|
March 22, 2022
Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis: The French Experience
Agathe Molimard, Cyril Gitiaux, Christine Barnerias, et al.
Medecine Sciences : M/S
|
November 18, 2024
[Benefit of treatment with rituximab in autoimmune myasthenia gravis in children]
Agathe Molimard, Cyril Gitiaux, Christine Barnerias, et al.
Journal of Inherited Metabolic Disease
|
September 5, 2024
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study
François Feillet, Jean-Baptiste Arnoux, María Bueno Delgado, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2023
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, et al.
Epilepsia
|
July 21, 2011
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane, et al.
Page
of 15
Search research articles
Search
Showing results (71-80 of 147) with videos related to
Sort By:
Page
of 15
Journal of Medical Genetics
|
October 9, 2010
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing
Karen Gaudon, Isabelle Pénisson-Besnier, Brigitte Chabrol, et al.
Annals of Neurology
|
June 23, 2015
CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy
Godelieve Morel, Cécile Rouzier, Annabelle Chaussenot, et al.
Brain : a Journal of Neurology
|
December 23, 2011
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, et al.
Orphanet Journal of Rare Diseases
|
February 22, 2022
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey
Delphine Genevaz, Armelle Arnoux, Catherine Marcel, et al.
Orphanet Journal of Rare Diseases
|
September 25, 2016
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
Marie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, et al.
Neurology
|
March 22, 2022
Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis: The French Experience
Agathe Molimard, Cyril Gitiaux, Christine Barnerias, et al.
Medecine Sciences : M/S
|
November 18, 2024
[Benefit of treatment with rituximab in autoimmune myasthenia gravis in children]
Agathe Molimard, Cyril Gitiaux, Christine Barnerias, et al.
Journal of Inherited Metabolic Disease
|
September 5, 2024
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study
François Feillet, Jean-Baptiste Arnoux, María Bueno Delgado, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2023
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, et al.
Epilepsia
|
July 21, 2011
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane, et al.
Page
of 15