Mochel, Fanny

Diagnosis, prognosis, and treatment of leukodystrophies

van der Knaap, M. S., Schiffmann, R., Mochel, F., & Wolf, N. I. (2019) · The Lancet Neurology

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 175

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 156

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

Lamari, F., Mochel, F., Sedel, F., & Saudubray, J. M. (2013) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 104

FDXR mutations cause sensorial neuropathies and expand the spectrum of mitochondrial Fe-S-synthesis diseases

Paul, A., Drecourt, A., Petit, F., Deguine, D. D., Vasnier, C., Oufadem, M., Masson, C., Bonnet, C., Masmoudi, S., Mosnier, I., et al. (2017) · The American Journal of Human Genetics

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 95

Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy

Giurgea, I., Ulinski, T., Touati, G., Sempoux, C., Mochel, F., Brunelle, F., Saudubray, J.-M., Fekete, C., & de Lonlay, P. (2005) · Pediatrics

Child Abuse and Related TraumaPancreatic function and diabetes

Cited by 76

A strategy for multimodal data integration: application to biomarkers identification in spinocerebellar ataxia

Garali, I., Adanyeguh, I. M., Ichou, F., Perlbarg, V., Seyer, A., Colsch, B., Moszer, I., Guillemot, V., Durr, A., Mochel, F., et al. (2018) · Briefings in Bioinformatics

Statistical Methods and ApplicationsMetabolomics and Mass Spectrometry Studies

Cited by 68

Multi-omics signature of brain amyloid deposition in asymptomatic individuals at-risk for Alzheimer's disease: The INSIGHT-preAD study

Xicota, L., Ichou, F., Lejeune, F.-X., Colsch, B., Tenenhaus, A., Leroy, I., Fontaine, G., Lhomme, M., Bertin, H., Habert, M.-O., et al. (2019) · EBioMedicine

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 51

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): A randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial

Köhler, W., Engelen, M., Eichler, F., Lachmann, R., Fatemi, A., Sampson, J., Salsano, E., Gamez, J., Molnar, M. J., Pascual, S., et al. (2023) · The Lancet Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 48

Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy

Golse, M., Weinhofer, I., Blanco, B., Barbier, M., Yazbeck, E., Huiban, C., Chaumette, B., Pichon, B., Fatemi, A., Pascual, S., et al. (2024) · Brain

Lysosomal Storage Disorders ResearchMultiple Sclerosis Research Studies

Cited by 23

Multi-cohort machine learning identifies predictors of cognitive impairment in Parkinson’s disease

Loo, R. T. J., Pavelka, L., Mangone, G., Khoury, F., Vidailhet, M., Corvol, J.-C., Glaab, E., On behalf of the NCER-PD Consortium, Acharya, G., Aguayo, G., et al. (2025) · npj Digital Medicine

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 9