Claude Jardel
0000-0001-6203-4474
Publication & Citation Trends
Publications
162 total
A novel frameshift mutation in DNA2 causes early onset myopathy with velopharyngeal weakness and cardiac arrhythmias (P5.4-010)
Cited by 0
Semantic Scholar
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.
Cited by 4
Semantic Scholar
Two new cases of mitochondrial myopathy with exercise intolerance, lactic acidosis and cardiomyopathy, caused by recessive SLC25A4 mutations
Cited by 1
Semantic Scholar
CSF biomarker variability in the Alzheimer's Association quality control program PDF
Cited by 383
OpenAlex
P.17.15 Life-threatening lactic acidosis occurring in adults with rare mutations of mtDNA: About three cases
Cited by 0
Semantic Scholar
G.P.114 Exercise intolerance in Debrancher deficiency is caused by a block in skeletal muscle and liver glycogen breakdown
Cited by 0
Semantic Scholar
Adult cases of mitochondrial DNA depletion due to TK2 defect
Cited by 49
Semantic Scholar
Research Topics
Mitochondrial Function and Pathology
(81)
Metabolism and Genetic Disorders
(56)
ATP Synthase and ATPases Research
(24)
Adipokines, Inflammation, and Metabolic Diseases
(11)
Genetic Neurodegenerative Diseases
(11)
Affiliations
University of Siena
Délégation Paris 5
Alzheimer's Association
Centre National de la Recherche Scientifique
San Francisco VA Medical Center