Pages that link to "Q30093362"
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The following pages link to Daniele Ghezzi (Q30093362):
Displaying 50 items.
- Cowchock syndrome is associated with a mutation in apoptosis-inducing factor (Q24305311) (← links)
- SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy (Q24313747) (← links)
- Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy (Q24321305) (← links)
- Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies (Q24338706) (← links)
- SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease (Q28118095) (← links)
- A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders (Q30397903) (← links)
- The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes. (Q30441690) (← links)
- Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations (Q30600054) (← links)
- Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB (Q30668621) (← links)
- Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature. (Q30910075) (← links)
- MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast (Q33641769) (← links)
- A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity (Q33641802) (← links)
- Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor (Q33772997) (← links)
- Novel (ovario) leukodystrophy related to AARS2 mutations (Q33987187) (← links)
- Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency (Q34146780) (← links)
- Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. (Q34411109) (← links)
- Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy (Q34450113) (← links)
- RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy (Q34481585) (← links)
- A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. (Q34510948) (← links)
- Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy (Q34734718) (← links)
- COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency (Q35059346) (← links)
- Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency (Q36040254) (← links)
- Loss of apoptosis-inducing factor critically affects MIA40 function. (Q36293830) (← links)
- A novel homozygous mutation in SUCLA2 gene identified by exome sequencing (Q36374568) (← links)
- The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes (Q36602142) (← links)
- Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant (Q36846924) (← links)
- FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency (Q36915427) (← links)
- A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease (Q38502090) (← links)
- VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies (Q38995109) (← links)
- New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies (Q39927552) (← links)
- LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance (Q39970753) (← links)
- Genetic diagnosis of Mendelian disorders via RNA sequencing (Q40953669) (← links)
- Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance (Q41500020) (← links)
- Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia (Q41551921) (← links)
- A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction (Q41750818) (← links)
- Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis (Q41836048) (← links)
- The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells (Q41963195) (← links)
- Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy (Q42135472) (← links)
- Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations (Q42236974) (← links)
- COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency (Q42328121) (← links)
- (Q42328155) (redirect page) (← links)
- A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy (Q42408435) (← links)
- Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts (Q42941651) (← links)
- Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence (Q43859646) (← links)
- PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum (Q45373112) (← links)
- A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy (Q47146900) (← links)
- Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator. (Q47417092) (← links)
- Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders (Q48213004) (← links)
- MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I. (Q48428912) (← links)
- Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes (Q48456462) (← links)