Search research articles
Contact Us
Filters
Showing results (11-20 of 52) with videos related to
Page
of 6
Sort By:
Journal of the Neurological Sciences
|
November 19, 2018
Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition
Marion Masingue, Jean-François Benoist, Emmanuel Roze, et al.
Neurophysiologie Clinique = Clinical Neurophysiology
|
April 30, 2022
Prognostic value of electroencephalographic paroxysms in post-anoxic coma: A new regularity EEG-based score
Yann Nadjar, Pierre Levy, Vi-Huong Nguyen-Michel, et al.
Journal of Inherited Metabolic Disease
|
March 20, 2019
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
Andoni Echaniz-Laguna, Yann Nadjar, Anthony Béhin, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
February 10, 2022
Diagnostic approach in adult-onset neurometabolic diseases
Gorka Fernández-Eulate, Christophe Carreau, Jean-François Benoist, et al.
Orphanet Journal of Rare Diseases
|
April 17, 2016
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
Bertrand Degos, Yann Nadjar, Maria del Mar Amador, et al.
Orphanet Journal of Rare Diseases
|
February 3, 2018
Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes
Ana Gales, Marion Masingue, Stephanie Millecamps, et al.
Orphanet Journal of Rare Diseases
|
January 23, 2019
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
María-Jesús Sobrido, Peter Bauer, Tom de Koning, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2024
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study
Quentin Salardaine, Natalia Shor, Nicolas Villain, et al.
Annals of Clinical and Translational Neurology
|
February 6, 2020
A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment
Christophe Carreau, Timothée Lenglet, Isabelle Mosnier, et al.
American Journal of Medical Genetics. Part A
|
January 9, 2024
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation
Kevin Uguen, Sylvia Redon, Karen Rouault, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 52) with videos related to
Sort By:
Page
of 6
Journal of the Neurological Sciences
|
November 19, 2018
Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition
Marion Masingue, Jean-François Benoist, Emmanuel Roze, et al.
Neurophysiologie Clinique = Clinical Neurophysiology
|
April 30, 2022
Prognostic value of electroencephalographic paroxysms in post-anoxic coma: A new regularity EEG-based score
Yann Nadjar, Pierre Levy, Vi-Huong Nguyen-Michel, et al.
Journal of Inherited Metabolic Disease
|
March 20, 2019
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
Andoni Echaniz-Laguna, Yann Nadjar, Anthony Béhin, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
February 10, 2022
Diagnostic approach in adult-onset neurometabolic diseases
Gorka Fernández-Eulate, Christophe Carreau, Jean-François Benoist, et al.
Orphanet Journal of Rare Diseases
|
April 17, 2016
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
Bertrand Degos, Yann Nadjar, Maria del Mar Amador, et al.
Orphanet Journal of Rare Diseases
|
February 3, 2018
Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes
Ana Gales, Marion Masingue, Stephanie Millecamps, et al.
Orphanet Journal of Rare Diseases
|
January 23, 2019
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
María-Jesús Sobrido, Peter Bauer, Tom de Koning, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2024
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study
Quentin Salardaine, Natalia Shor, Nicolas Villain, et al.
Annals of Clinical and Translational Neurology
|
February 6, 2020
A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment
Christophe Carreau, Timothée Lenglet, Isabelle Mosnier, et al.
American Journal of Medical Genetics. Part A
|
January 9, 2024
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation
Kevin Uguen, Sylvia Redon, Karen Rouault, et al.
Page
of 6