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Orphanet Journal of Rare Diseases
|
August 17, 2018
Miglustat in Niemann-Pick disease type C patients: a review
Mercè Pineda, Mark Walterfang, Marc C Patterson
Journal of Neuroscience Methods
|
March 19, 2002
Monitoring of idebenone treatment in patients with Friedreich's ataxia by high-pressure liquid chromatography with electrochemical detection
Rafael Artuch, Catrina Colomé, Maria Antònia Vilaseca, et al.
Molecular Genetics and Metabolism
|
February 19, 2009
Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain
Judit Macías-Vidal, Laura Gort, Montse Lluch, et al.
International Journal of Molecular Sciences
|
August 15, 2019
Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges
Silvia Vidal, Clara Xiol, Ainhoa Pascual-Alonso, et al.
Annals of Neurology
|
February 22, 2002
News and comment
Judith Armstrong, Pilar Póo, Mercè Pineda, et al.
Orphanet Journal of Rare Diseases
|
May 29, 2015
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study
Marc C Patterson, Eugen Mengel, Marie T Vanier, et al.
Orphanet Journal of Rare Diseases
|
October 23, 2021
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, et al.
Metabolic Brain Disease
|
December 22, 2015
Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism
Alba Tristán-Noguero, Héctor Díez, Cristina Jou, et al.
Molecular Genetics & Genomic Medicine
|
June 18, 2019
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
Silvia Vidal, Ainhoa Pascual-Alonso, Marc Rabaza-Gairí, et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry
|
September 16, 2017
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry
Olivier Bonnot, Clarissa S Gama, Eugen Mengel, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 40) with videos related to
Sort By:
Page
of 4
Orphanet Journal of Rare Diseases
|
August 17, 2018
Miglustat in Niemann-Pick disease type C patients: a review
Mercè Pineda, Mark Walterfang, Marc C Patterson
Journal of Neuroscience Methods
|
March 19, 2002
Monitoring of idebenone treatment in patients with Friedreich's ataxia by high-pressure liquid chromatography with electrochemical detection
Rafael Artuch, Catrina Colomé, Maria Antònia Vilaseca, et al.
Molecular Genetics and Metabolism
|
February 19, 2009
Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain
Judit Macías-Vidal, Laura Gort, Montse Lluch, et al.
International Journal of Molecular Sciences
|
August 15, 2019
Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges
Silvia Vidal, Clara Xiol, Ainhoa Pascual-Alonso, et al.
Annals of Neurology
|
February 22, 2002
News and comment
Judith Armstrong, Pilar Póo, Mercè Pineda, et al.
Orphanet Journal of Rare Diseases
|
May 29, 2015
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study
Marc C Patterson, Eugen Mengel, Marie T Vanier, et al.
Orphanet Journal of Rare Diseases
|
October 23, 2021
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, et al.
Metabolic Brain Disease
|
December 22, 2015
Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism
Alba Tristán-Noguero, Héctor Díez, Cristina Jou, et al.
Molecular Genetics & Genomic Medicine
|
June 18, 2019
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
Silvia Vidal, Ainhoa Pascual-Alonso, Marc Rabaza-Gairí, et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry
|
September 16, 2017
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry
Olivier Bonnot, Clarissa S Gama, Eugen Mengel, et al.
Page
of 4