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Orphanet Journal of Rare Diseases
|
October 20, 2017
Cognitive impairment profile in adult patients with Niemann pick type C disease
Camille Heitz, Stéphane Epelbaum, Yann Nadjar
Journal of the Peripheral Nervous System : JPNS
|
September 14, 2025
Motor Neuropathy in a Patient With Mitochondrial Disease and a Novel TTC19 Variant: An Underrecognized Phenotypic Feature
Daniele Mandia, Charline Benoit, Tanya Stojkovic, et al.
JAMA Neurology
|
January 11, 2021
Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review
Daniele Mandia, Natalia Shor, Jean-François Benoist, et al.
Molecular and Cellular Neurosciences
|
March 1, 2015
The Susd2 protein regulates neurite growth and excitatory synaptic density in hippocampal cultures
Yann Nadjar, Antoine Triller, Jean-Louis Bessereau, et al.
Stem Cell Research
|
August 17, 2025
Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis)
Gorka Fernández-Eulate, Céline Banal, Solène Renault, 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.
Plos One
|
October 2, 2012
Elevated serum ferritin is associated with reduced survival in amyotrophic lateral sclerosis
Yann Nadjar, Paul Gordon, Philippe Corcia, et al.
Journal of Inherited Metabolic Disease
|
June 3, 2026
Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, et al.
Clinical Neurology and Neurosurgery
|
January 29, 2011
Injection of interferon-beta in the morning decreases flu-like syndrome in many patients with multiple sclerosis
Yann Nadjar, Emilie Coutelas, Pauline Prouteau, et al.
Rapid Communications in Mass Spectrometry : RCM
|
April 4, 2017
Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses
Monique Piraud, Magali Pettazzoni, Louise Menegaut, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 52) with videos related to
Sort By:
Page
of 6
Orphanet Journal of Rare Diseases
|
October 20, 2017
Cognitive impairment profile in adult patients with Niemann pick type C disease
Camille Heitz, Stéphane Epelbaum, Yann Nadjar
Journal of the Peripheral Nervous System : JPNS
|
September 14, 2025
Motor Neuropathy in a Patient With Mitochondrial Disease and a Novel TTC19 Variant: An Underrecognized Phenotypic Feature
Daniele Mandia, Charline Benoit, Tanya Stojkovic, et al.
JAMA Neurology
|
January 11, 2021
Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review
Daniele Mandia, Natalia Shor, Jean-François Benoist, et al.
Molecular and Cellular Neurosciences
|
March 1, 2015
The Susd2 protein regulates neurite growth and excitatory synaptic density in hippocampal cultures
Yann Nadjar, Antoine Triller, Jean-Louis Bessereau, et al.
Stem Cell Research
|
August 17, 2025
Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis)
Gorka Fernández-Eulate, Céline Banal, Solène Renault, 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.
Plos One
|
October 2, 2012
Elevated serum ferritin is associated with reduced survival in amyotrophic lateral sclerosis
Yann Nadjar, Paul Gordon, Philippe Corcia, et al.
Journal of Inherited Metabolic Disease
|
June 3, 2026
Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, et al.
Clinical Neurology and Neurosurgery
|
January 29, 2011
Injection of interferon-beta in the morning decreases flu-like syndrome in many patients with multiple sclerosis
Yann Nadjar, Emilie Coutelas, Pauline Prouteau, et al.
Rapid Communications in Mass Spectrometry : RCM
|
April 4, 2017
Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses
Monique Piraud, Magali Pettazzoni, Louise Menegaut, et al.
Page
of 6