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Journal of Neurology, Neurosurgery, and Psychiatry
|
October 22, 2020
Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies
Christophe Carreau, Charline Benoit, Guido Ahle, et al.
Journal of the Neurological Sciences
|
February 1, 2011
Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis
Hélène Blasco, Patrick Vourc'h, Yann Nadjar, et al.
Annals of Neurology
|
January 30, 2020
Natural History of Adult Patients with GM2 Gangliosidosis
Marion Masingue, Louis Dufour, Timothée Lenglet, et al.
Orphanet Journal of Rare Diseases
|
December 13, 2022
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts
Gorka Fernández-Eulate, Gilles C Martin, Pascal Dureau, et al.
Journal of Neurology
|
May 23, 2019
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults
Daniele Mandia, Annabelle Chaussenot, Gérard Besson, et al.
Molecular Genetics and Metabolism
|
January 29, 2023
Plasma G<sub>M2</sub> ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
Amélie Blondel, Ichraf Kraoua, Chloé Marcelino, et al.
Journal of Clinical Medicine
|
May 7, 2020
A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease
Abdellah Tebani, Wladimir Mauhin, Lenaig Abily-Donval, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2020
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study
Marc C Patterson, William S Garver, Robert Giugliani, et al.
Human Molecular Genetics
|
February 4, 2020
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations
Nicolás Gutiérrez Cortés, Claire Pertuiset, Elodie Dumon, et al.
Frontiers in Neurology
|
November 17, 2025
Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review
Justin Simo, Heather M Lugar, Elka Miller, et al.
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of 6
Search research articles
Search
Showing results (21-30 of 52) with videos related to
Sort By:
Page
of 6
Journal of Neurology, Neurosurgery, and Psychiatry
|
October 22, 2020
Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies
Christophe Carreau, Charline Benoit, Guido Ahle, et al.
Journal of the Neurological Sciences
|
February 1, 2011
Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis
Hélène Blasco, Patrick Vourc'h, Yann Nadjar, et al.
Annals of Neurology
|
January 30, 2020
Natural History of Adult Patients with GM2 Gangliosidosis
Marion Masingue, Louis Dufour, Timothée Lenglet, et al.
Orphanet Journal of Rare Diseases
|
December 13, 2022
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts
Gorka Fernández-Eulate, Gilles C Martin, Pascal Dureau, et al.
Journal of Neurology
|
May 23, 2019
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults
Daniele Mandia, Annabelle Chaussenot, Gérard Besson, et al.
Molecular Genetics and Metabolism
|
January 29, 2023
Plasma G<sub>M2</sub> ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
Amélie Blondel, Ichraf Kraoua, Chloé Marcelino, et al.
Journal of Clinical Medicine
|
May 7, 2020
A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease
Abdellah Tebani, Wladimir Mauhin, Lenaig Abily-Donval, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2020
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study
Marc C Patterson, William S Garver, Robert Giugliani, et al.
Human Molecular Genetics
|
February 4, 2020
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations
Nicolás Gutiérrez Cortés, Claire Pertuiset, Elodie Dumon, et al.
Frontiers in Neurology
|
November 17, 2025
Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review
Justin Simo, Heather M Lugar, Elka Miller, et al.
Page
of 6