949 results on '"Reynier, Pascal"'
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102. Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
103. Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
104. Metabolomic Profiling of Angiotensin-II-Induced Abdominal Aortic Aneurysm in Ldlr −/− Mice Points to Alteration of Nitric Oxide, Lipid, and Energy Metabolisms.
105. Metabolomic Sexual Dimorphism of the Mouse Brain is Predominantly Abolished by Gonadectomy with a Higher Impact on Females
106. Preliminary Metabolomic Profiling of the Vitreous Humor from Hypothermia Fatalities
107. DRP1 haploinsufficiency attenuates cardiac ischemia/reperfusion injuries
108. Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy
109. Iron Deficiency without Anemia Decreases Physical Endurance and Mitochondrial Complex I Activity of Oxidative Skeletal Muscle in the Mouse
110. Secondary coenzyme Q deficiency in neurological disorders
111. Mitochondria: their role in spermatozoa and in male infertility
112. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
113. Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity
114. Myelinating Schwann cells use Warburg effect to sustain axonal physiology and function
115. Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
116. Low serum testosterone assayed by liquid chromatography-tandem mass spectrometry. Comparison with five immunoassay techniques
117. Erratum to: Retinal metabolic events in preconditioning light stress as revealed by wide-spectrum targeted metabolomics
118. Gene profiling reveals specific oncogenic mechanisms and signaling pathways in oncocytic and papillary thyroid carcinoma
119. Embryo and Its Mitochondria
120. High-throughput phenotypic screen for genetic modifiers in patient-derived OPA1 mutant fibroblasts identifies PGS1 as a functional suppressor of mitochondrial fragmentation
121. Deep learning shows no morphological abnormalities in neutrophils in Alzheimer's disease
122. A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies
123. Maternal smoking is associated with mitochondrial DNA depletion and respiratory chain complex III deficiency in placenta
124. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
125. Sensorineural hearing loss in OPA1-linked disorders
126. The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse
127. NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome.
128. MFN2, a new gene responsible for mitochondrial DNA depletion
129. Molecular characterization of corona radiata cells from patients with diminished ovarian reserve using microarray and microfluidic-based gene expression profiling
130. Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene
131. Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene
132. Never too old to harbour a young manʼs disease?
133. Heterozygous OPA1 mutations in Behr syndrome
134. Mitochondrial DNA Parameters in Blood of Infants Receiving Lopinavir/Ritonavir or Lamivudine Prophylaxis to Prevent Breastfeeding Transmission of HIV-1
135. Metabolomic signature of the seminal plasma in men with severe oligoasthenospermia
136. Endometriosis Lowers the Cumulative Live Birth Rates in IVF by Decreasing the Number of Embryos but Not Their Quality
137. Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity
138. Metabolomic Profiling of Plasma and Erythrocytes in Sickle Mice Points to Altered Nociceptive Pathways
139. Elevated Levels of Monocyte Chemotactic Protein-1 in the Follicular Fluid Reveals Different Populations among Women with Severe Endometriosis
140. Physiology of PNS axons relies on glycolytic metabolism in myelinating Schwann cells
141. Increased Protein S-Glutathionylation in Leber’s Hereditary Optic Neuropathy (LHON)
142. Sickle Cell Disease: Metabolomic Profiles of Vaso-Occlusive Crisis in Plasma and Erythrocytes
143. Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity
144. A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies
145. A Data Mining Metabolomics Exploration of Glaucoma
146. Analyse biochimique multi-paramétrique révélant une augmentation de l'homocystéinémie et du NT-ProBNP chez les patients hypertendus à Bamako (Mali)
147. Data-Mining Approach on Transcriptomics and Methylomics Placental Analysis Highlights Genes in Fetal Growth Restriction
148. Metabolomics reveals highly regional specificity of cerebral sexual dimorphism in mice
149. Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K
150. Mitochondrial DNA in the Oocyte and the Developing Embryo
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