Researcher profile · Semantic Scholar

F. Mochel

h-index: 6
Works: 15
Citations: 88

Most-cited papers

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Martina Huemer, D. Diodato, D. Martinelli, G. Olivieri +58 more
2018Journal of Inherited Metabolic Disease40 citations Open access
Semantic Scholar
Evaluation of CSF1R‐related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria
X. Ayrignac, C. Carra-Dallière, Pékès Codjia, K. Mouzat +17 more
2021European Journal of Neurology12 citations
Semantic Scholar
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
D. Schoenmakers, Marije A. B. C. Asbreuk, Tamara Martin, M. Datema +35 more
2025European journal of paediatric neurology9 citations Open access
Semantic Scholar
Metachromatic Leukodystrophy
Marije A. B. C. Asbreuk, D. Schoenmakers, L. Adang, Shanice Beerepoot +26 more
2025Neurology8 citations Open access
Semantic Scholar
Effect of Triheptanoin on Caudate Atrophy and Motor Scores in Patients With Early-Stage Huntington Disease
F. Mochel, A. Méneret, I. Adanyeguh, Camille Giron +14 more
2024Neurology6 citations Open access
Semantic Scholar
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers
S. Wong, L. Y. Yuen, E. Kan, N. Blau +6 more
2023Molecular Genetics and Metabolism Reports6 citations Open access
Semantic Scholar
What can pediatricians learn from adult inherited metabolic diseases?
F. Mochel
2024Journal of Inherited Metabolic Disease4 citations Open access
Semantic Scholar
Comment to: “Randomized Phase 3 Study of Triheptanoin for Glut1 Deficiency Syndrome–Associated Paroxysmal Movement Disorders”
E. Roze, A. Méneret, É. Hainque, F. Mochel
2024Movement Disorders2 citations Open access
Semantic Scholar
Use of Brain MRI in Cerebral Adrenoleukodystrophy
Hemmo A. F. Yska, M. Golse, D. Galanaud, Hernan Amartino +27 more
2026Neurology1 citations Open access
Semantic Scholar
Prominent U-waves Without QT Prolongation in X-linked Creatine Transporter Deficiency Caused by SLC6A8 Variants.
Antoine Delinière, Chloé Mulatier, David Cheillan, Farha Gheurbi +28 more
2025Heart Rhythm1 citations Open access
Semantic Scholar
Connections between physics and metabolism in brain functions
F. Mochel, Alfonso de Oyarzábal Sanz, Leticia Pías Peleteiro, Juliana Ribeiro-Constante +11 more
2026iScience0 citations Open access
Semantic Scholar
Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in CSF1R-Related Disorder
X. Ayrignac, C. Marelli, Sylvain Lehmann, Camille Huiban +4 more
2026Neurology: Genetics0 citations Open access
Semantic Scholar
Cobalamin‐Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment‐New Cases and a Literature Study
Karolina M. Stepien, J. Sykut-Cegielska, J. Sloan, F. Piazzon +19 more
2026Journal of Inherited Metabolic Disease0 citations Open access
Semantic Scholar
Reply to: “Microglia Replacement in CSF1R‐RD: Current Evidence and Future Priorities”
Hemmo A. F. Yska, Stéphanie Nguyen, M. Golse, F. Mochel +1 more
2025Movement Disorders0 citations
Semantic Scholar
Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency
B. Rousselot-Pailley, Michaela Semeraro, F. Marquant, Laurence Robel +9 more
2025Journal of Inherited Metabolic Disease0 citations Open access
Semantic Scholar

Hemmo A. F. Yska×3

Martina Huemer×2

P. Ješina×2

I. Schwartz×2

C. Marelli×2

I. Le Ber×2

P. Labauge×2

D. Schoenmakers×2