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Molecular Genetics and Metabolism|December 21, 2007
Risk assessment of acute vascular events in congenital disorder of glycosylation type IaJ B Arnoux, N Boddaert, V Valayannopoulos, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 9, 2020
Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature reviewJ Chavany, A Cano, B Roquelaure, et al.European Journal of Human Genetics : EJHG|April 11, 2000
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28L Villard, V des Portes, N Levy, et al.Lancet (London, England)|October 6, 1999
Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analoguesS Blanche, M Tardieu, P Rustin, et al.Journal of the Pediatric Infectious Diseases Society|September 26, 2015
Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive EncephalitisM-L Frémond, P Pérot, E Muth, et al.Biochimica Et Biophysica Acta|February 14, 2012
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndromeZ Assouline, M Jambou, M Rio, et al.Journal of Neuroengineering and Rehabilitation|October 16, 2024
Acceptability, validity and responsiveness of inertial measurement units for assessing motor recovery after gene therapy in infants with early onset spinal muscular atrophy: a prospective cohort studyR Barrois, B Tervil, M Cacioppo, et al.Clinical Genetics|June 4, 2014
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disordersA Chaussenot, C Rouzier, M Quere, et al.Molecular Genetics and Metabolism|October 24, 2007
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiencyN Boddaert, S Romano, B Funalot, et al.Molecular Genetics and Metabolism|April 21, 2009
Long-term outcome in methylmalonic aciduria: a series of 30 French patientsM A Cosson, J F Benoist, G Touati, et al.Pageof 19