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JIMD Reports
|
September 10, 2019
Education and training in adult metabolic medicine: Results of an international survey
Annalisa Sechi, Elisa Fabbro, Mirjam Langeveld, et al.
Orphanet Journal of Rare Diseases
|
February 3, 2017
Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment
Marion Masingue, Isaac Adanyeguh, Yann Nadjar, et al.
The Lancet. Neurology
|
July 17, 2019
Diagnosis, prognosis, and treatment of leukodystrophies
Marjo S van der Knaap, Raphael Schiffmann, Fanny Mochel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 30, 2025
Reply to: "Microglia Replacement in CSF1R-RD: Current Evidence and Future Priorities"
Hemmo A F Yska, Stéphanie Nguyen, Marianne Golse, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|
April 25, 2018
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
Camille Giron, Emmanuel Roze, Bertrand Degos, et al.
Developmental Medicine and Child Neurology
|
September 25, 2015
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation
Rodolphe Dard, Cyril Mignot, Alexandra Durr, et al.
NMR in Biomedicine
|
April 15, 2015
Quantification of in vivo ³¹P NMR brain spectra using LCModel
Dinesh Kumar Deelchand, Tra-My Nguyen, Xiao-Hong Zhu, et al.
Sleep Medicine
|
June 21, 2017
Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome
Jean-Baptiste Maranci, Emmanuel Roze, Jean-François Benoist, et al.
Mitochondrion
|
February 24, 2018
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations
Marion Masingue, Isaac Adanyeguh, Maya Tchikviladzé, et al.
Molecular Genetics and Metabolism
|
February 21, 2021
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months
Nathalie Guffon, Fanny Mochel, Manuel Schiff, et al.
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Search research articles
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Showing results (31-40 of 172) with videos related to
Sort By:
Page
of 18
JIMD Reports
|
September 10, 2019
Education and training in adult metabolic medicine: Results of an international survey
Annalisa Sechi, Elisa Fabbro, Mirjam Langeveld, et al.
Orphanet Journal of Rare Diseases
|
February 3, 2017
Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment
Marion Masingue, Isaac Adanyeguh, Yann Nadjar, et al.
The Lancet. Neurology
|
July 17, 2019
Diagnosis, prognosis, and treatment of leukodystrophies
Marjo S van der Knaap, Raphael Schiffmann, Fanny Mochel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 30, 2025
Reply to: "Microglia Replacement in CSF1R-RD: Current Evidence and Future Priorities"
Hemmo A F Yska, Stéphanie Nguyen, Marianne Golse, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|
April 25, 2018
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
Camille Giron, Emmanuel Roze, Bertrand Degos, et al.
Developmental Medicine and Child Neurology
|
September 25, 2015
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation
Rodolphe Dard, Cyril Mignot, Alexandra Durr, et al.
NMR in Biomedicine
|
April 15, 2015
Quantification of in vivo ³¹P NMR brain spectra using LCModel
Dinesh Kumar Deelchand, Tra-My Nguyen, Xiao-Hong Zhu, et al.
Sleep Medicine
|
June 21, 2017
Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome
Jean-Baptiste Maranci, Emmanuel Roze, Jean-François Benoist, et al.
Mitochondrion
|
February 24, 2018
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations
Marion Masingue, Isaac Adanyeguh, Maya Tchikviladzé, et al.
Molecular Genetics and Metabolism
|
February 21, 2021
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months
Nathalie Guffon, Fanny Mochel, Manuel Schiff, et al.
Page
of 18