| Go | Date | Titoli |
 |
Settembre
2003 | MELAS: clinical phenotype e morphological brain abnormalities. |
|
Agosto
2003 | [Mitocondriale DNA mutations in patients con chronic progressive external ophthalmoplegia
e Kearns-Sayre syndrome]
|
|
Agosto
2003 | The Spectrum of Systemic Involvement in Adults Presenting
con Renal Lesion
e Mitocondriale tRNA(Leu) Gene Mutation.
|
|
Agosto
2003 | Pelvic lymphocyst infection associated con maternally inherited diabetes mellitus.
|
|
Luglio
2003 | Etiological investigation of diabetes in young adults presenting
con apparent
tipo 2 diabetes.
|
|
maggio
2003 | Executive e visuospatial deficits in patients con chronic progressive external ophthalmoplegia
e Kearns-Sayre syndrome.
|
|
maggio
2003 | A review of cochlear implantation in
mitocondriale sensorineural hearing loss. |
|
maggio
2003 | Towards understanding human mitocondriale leucine aminoacylation identity. |
| Apr
2003 |
Mitocondriale DNA haplogroups do not play a role in the variable phenotypic presentation
della A3243G mutation.
|
| Apr
2003 | [Dichloroacetate treatment
per adult patients con mitocondriale disease]
|
| Apr
2003 |
uno studio of mitocondriale DNA mutations in peripheral lymphocytes in an aging cohort.
|
| Mar
2003 | Increased
mitocondriale processing intermediates associated
con tre tRNA(Leu(UUR)) gene mutations.
|
| Mar
2003 | Intestinal pseudo-obstruction
e urinary retention: cardinal features of a mitocondriale DNA-related disease.
|
| Mar
2003 | Search
per difference in aminoacylation of mitocondriale DNA-encoded wild-type
e mutant human tRNALeu (UUR).
|
| Mar
2003 | The
mitocondriale DNA A3243G mutation in Werner's syndrome.
|
| Feb
2003 | Heteroplasmic ratio
della A3243G
mitocondriale DNA mutation in single pancreatic beta cellule.
|
| Feb
2003 | The pathogenic A3243G mutation in human
mitocondriale tRNALeu(UUR) decreases the efficiency of aminoacylation.
|
| Jan
2003 | Increased metabolic
muscoli fatigue
è causato by alcune ma not all mitocondriale mutations.
|
| Jan
2003 | [Cardiomyopathy showing progression from diffuse left ventricular hypertrophy to dilated phase associated
con mitocondriale DNA
mutazioni puntiformi A3243G: A case report]
|
| Jan
2003 | The yeast counterparts of human MELAS mutations cause
mitocondriale dysfunction
che può be rescued by overexpression della mitocondriale translation factor EF-Tu.
|
| Jan
2003 | Comparative bioavailability of
due novel coenzima
Q10 preparations in humans. |
|
dicembre
2002 | [Mitocondriale encefalomiopatia, lactic acidosis e stroke-like episodes (Melas) associated
con a Fahr disease
e cerebellar calcifications]
|
|
dicembre
2002 | Design e use of a peptide nucleic acid per detection
della heteroplasmic low-frequency
mitocondriale
encefalomiopatia, lactic acidosis, e stroke-like episodes (MELAS) mutation in human
mitocondriale DNA.
|
|
novembre
2002 | Diversity of clinical sintomi in A3243G
mitocondriale DNA mutation (MELAS syndrome mutation).
|
|
Ottobre
2002 | Expression pattern of mitocondriale respiratory chain
enzimas in
scheletrali
muscoli of patients harboring the
mutazione puntiforme A3243G o large-scale deletions of mitocondriale DNA.
|
|
Settembre
2002 | Clinical phenotype, prognosis e mitocondriale DNA mutation load in
mitocondriale encephalomyopathies.
|
|
Settembre
2002 | Insulin resistance in patients con the
mitocondriale tRNA(Leu(UUR)) gene mutation at
posizione 3243.
|
|
Agosto
2002 | Can mitocondriale DNA mutations cause sperm dysfunction?
|
|
Agosto
2002 | Phenotipi e mitocondriale DNA substitutions in families
con A3243G mutation.
|
|
Agosto
2002 | Dimerization of a pathogenic human mitocondriale tRNA.
|
|
Luglio
2002 | Defining the importance of mitocondriale gene
difetto in maternally inherited diabetes by sequencing the entire
mitocondriale genome. |
|
Luglio
2002 | Detection of mutazione puntiforme A3243G in
mitocondriale DNA from 10 cases of MELAS.
|
|
Luglio
2002 | A case of a de novo A3243G mutation in
mitocondriale DNA in a patient
con diabetes
e deafness.
|
| Jun
2002 | Rapid screening
mitocondriale DNA mutation by using denaturing high-performance liquid chromatography.
|
| Jun
2002 | Study
nel relationship between mitocondriale gene mutation
e latent autoimmune diabetes mellitus in adults. |
|
maggio
2002 | Contribution of conosciuto e unknown susceptibility genes to early-onset diabetes in scandinavia:
evidenza
per heterogeneity.
|
|
maggio
2002 | Mitocondriale disorders: a potentially under-recognized etiology of infantile spasms.
|
|
maggio
2002 | External ophthalmoplegia con severe progressive multiorgan involvement associated
con the mtDNA A3243G mutation.
|
|
maggio
2002 | Mitocondriale diabetes: pathophysiology, clinical presentation,
e genetic analysis.
|
|
maggio
2002 | Progressive cardiomyopathy come manifestation of
mitocondriale disease.
|
| Apr
2002 | Respiratory insufficiency in a Chinese adult
con mitocondriale myopathy. |
| Apr
2002 | Modulating heteroplasmy. |
| Mar
2002 |
MERRF/MELAS overlap syndrome in a family con A3243G mtDNA mutation.
|
| Mar
2002 | Intergenerational transmission of pathogenic heteroplasmic
mitocondriale DNA. |
| Mar
2002 | [Intestinal pseudoobstructions
e gastric necrosis in mitocondriale myopathy]
|
| Feb
2002 |
materna transmission of diabetes. |
| Feb
2002 | Histochemical
e molecular genetic study of MELAS e MERRF in Korean patients. |
|
dicembre
2001 | Mitocondriale 3243 BP mutation: a case report. |
|
dicembre
2001 | The level della mitocondriale mutation A3243G decreases upon ageing in epithelial
cellule from individuals
con diabetes
e deafness. |
|
dicembre
2001 | Enhanced oxidative damage in human cellule harboring A3243G mutation of
mitocondriale DNA: implication of oxidative stress in the pathogenesis of
mitocondriale diabetes. |
|
dicembre
2001 | Molecular analysis of diabetes mellitus-associated A3243G
mitocondriale DNA mutation in Taiwanese cases. |
|
novembre
2001 | [The research progress della association of
mitocondriale DNA mutation
con cardiomyopathy]
|
|
novembre
2001 | Hearing impairment è common in various phenotipi
della
mitocondriale DNA A3243G mutation. |
|
novembre
2001 | mtDNA disease in the primary care setting. |
|
Settembre
2001 | Mitocondriale gene mutations in the tRNA(Leu(UUR)) region
e diabetes: prevalence e clinical phenotipi in Japan. |
|
Settembre
2001 | Retrospective study of a large popolazione of patients affected
con mitocondriale disorders: clinical, morphological
e molecular genetic evaluation. |
|
Agosto
2001 | Infantile presentation della mtDNA A3243G tRNA(Leu (UUR)) mutation.
|
|
Agosto
2001 | [A case of MELAS presenting complesso partial status epilepticus] |
|
Luglio
2001 | An autopsy case of mitocondriale encefalomiopatia
con lactic acidosis
e stroke-like episodes syndrome con chronic renal failure. |
|
Luglio
2001 | A novel mutation in the mitocondriale 16S rRNA gene in a patient
con MELAS syndrome, diabetes mellitus, hyperthyroidism
e cardiomyopathy.
|
|
Luglio
2001 | Diminished insulin secretory response to glucose
ma normal insulin
e glucagon secretory responses to Arginina in a family con maternally inherited diabetes
e deafness causato by mitocondriale tRNA(LEU(UUR)) gene mutation.
|
| Jun
2001 | [From gene to disease; mutation in
mitocondriale DNA
e maternally inherited diabetes mellitus con deafness (MIDD)] |
| Jun
2001 | Psychophysical evaluation of cochlear hair cell damage due to the A3243G
mitocondriale DNA mutation. |
|
maggio
2001 | Insulin secretion e insulin sensitivity sono normal in non-diabetic subjects from
materna inheritance diabetes
e deafness families.
|
|
maggio
2001 | Maternally inherited diabetes e deafness: a multicenter study. |
|
maggio
2001 | An 80-year-old mitocondriale disease patient con A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction
come the main symptom.
|
|
maggio
2001 | Mitocondriale DNA transfer RNA gene sequence variations in patients
con mitocondriale disorders. |
| Apr
2001 | Lack of apoptosis in
mitocondriale encephalomyopathies.
|
| Apr
2001 | Hearing impairment in patients
con 3243A-->G mtDNA mutation: phenotype
e rate of progression.
|
| Apr
2001 | Familial early-onset
tipo 2 diabetes in Chinese patients: obesity
e genetics hanno più significant roles than autoimmunity. |
| Apr
2001 | Clinical
e pathologic features of focal segmental glomerulosclerosis con
mitocondriale tRNALeu(UUR) gene mutation.
|
| Apr
2001 | No correlation between
muscoli A3243G mutation load
e mitocondriale function in vivo.
|
| Mar
2001 | [Analysis of mutations A3243G, C3256T
e mitocondriale deletions in 41 diabetic patients]
|
| Mar
2001 | Barth's syndrome-like disorder: a new phenotype
con a maternally inherited A3243G substitution of mitocondriale DNA (MELAS mutation).
|
| Mar
2001 | Search
per mitocondriale A3243G tRNA(Leu) mutation in Polish patients con tipo 2 diabetes mellitus. |
| Mar
2001 | Involvement of nervous system in maternally inherited diabetes
e deafness (MIDD) con the A3243G mutation of mitocondriale DNA.
|
| Feb
2001 | [Familial
mitocondriale chronic progressive external ophthalmoplegia. Cinque families
con differing genetics]
|
| Feb
2001 | De novo mutation in the
mitocondriale tRNALeu(UUR) gene (A3243G)
con rapid segregation resulting in MELAS in the offspring.
|
| Feb
2001 | Random genetic drift determines the level of mutant mtDNA in human primary oocytes.
|
| Jan
2001 | Molecular
e clinical aspects of mitocondriale diabetes mellitus. |
| Jan
2001 |
Mitocondriale enteropathy: the primary pathology may not be within the gastrointestinal tract.
|
| Jan
2001 | Search
per mitocondriale DNA mutation at
posizione 3243 in German patients con a positive family history of
materna diabetes mellitus.
|
| Jan
2001 | Nail-patella syndrome associated
con respiratory chain disorder.
|
| Jan
2001 | Frequency
e clinical features of patients con sensorineural hearing loss associated
con the A3243G mutation della mitocondriale DNA in otorhinolaryngic clinics. |
| Jan
2001 | Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
|
| Jan
2001 | Relative fitness of
portatori della mitocondriale DNA mutation 3243A > G. |
|
dicembre
2000 | HLA-DQ polymorphism e degree of heteroplasmy della A3243G
mitocondriale DNA mutation in maternally inherited diabetes
e deafness. |
|
dicembre
2000 | [MELAS (A3243G) mutation of mitocondriale DNA:
uno studiio della relationships between the clinical phenotype in 19 patients
e morphological e molecular data]
|
|
dicembre
2000 | Increased risk of stroke in patients con the A12308G polymorphism in mitochondria.
|
|
novembre
2000 | [Mitocondriale encephalomyelitis, lactic acidosis
e cerebrovascular accidents (MELAS) in pediatric age con the A3243G mutation in the tRNALeu(UUR) gene of
mitocondriale DNA]
|
|
novembre
2000 | Doleris LM, Hill GS, Chedin P, Nochy D, Bellanne-Chantelot C, Hanslik T, Bedrossian J, Caillat-Zucman S, Cahen-Varsaux J, Bariety J.
|
|
novembre
2000 | Mitocondriale DNA variations in patients con maternally inherited diabetes
e deafness syndrome.
|
|
Settembre
2000 | Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution
e phenotypic expression della mtDNA(A3243G) genotype.
|
|
Agosto
2000 | Functional mitocondriale heterogeneity in heteroplasmic
cellule carrying the
mitocondriale DNA mutation associated
con the MELAS syndrome (mitocondriale encephalopathy, lactic acidosis,
e strokelike episodes).
|
|
Agosto
2000 | The epidemiologia of pathogenic mitocondriale DNA mutations. |
|
Luglio
2000 | Assessing the relative incidence of mitocondriale DNA A3243G in migraine
senza aura
con materna inheritance.
|
|
Luglio
2000 | Mitocondriale myopathy e familial thiamine deficiency. |
|
Luglio
2000 | Higher proportion of mitocondriale A3243G mutation in blood than in
scheletrali
muscoli in a patient
con cardiomyopathy
e hearing loss.
|
| Jun
2000 | [Molecular studies in Cuban patients
con progressive external ophthalmoplegia]
|
| Jun
2000 | The
mitocondriale myopathy, encephalopathy, lactic acidosis,
e stroke-like episode syndrome-associated human mitocondriale tRNALeu(UUR) mutation causes aminoacylation deficiency
e concomitant reduced association of mRNA con ribosomes.
|
|
maggio
2000 | Heterogeneous presentation in A3243G mutation in the
mitocondriale tRNA(Leu(UUR)) gene. |
|
maggio
2000 | Mitocondriale DNA A3243G mutation in patients con early-
o late-onset
tipo 2 diabetes mellitus in Hong Kong Chinese.
|
| Mar
2000 | The np 3243 MELAS mutation: damned if you aminoacylate, damned if you dont. |
| Mar
2000 | Very low levels
della mtDNA A3243G mutation associated
con mitocondriale dysfunction in vivo.
|
| Mar
2000 | Decreased aminoacylation of mutant tRNAs in MELAS
ma not in MERRF patients.
|
| Mar
2000 | Diabetes mellitus, deafness,
muscoli weakness
e hypocalcemia in a patient con an A3243G mutation della mitocondriale DNA. |
| Feb
2000 | Single-fiber analysis of
mitocondriale A3243G mutation in four different phenotipi.
|
| Feb
2000 | Oxidative phosphorylation defect in the brains of
portatori della tRNAleu(UUR) A3243G mutation in a MELAS pedigree.
|
| Feb
2000 | mtDNA A3243G MELAS mutation
è not associated con multigenerational female migraine. |
| Jan
2000 | The spectrum of hearing loss due to
mitocondriale DNA
difetto. |
| Jan
2000 | Absence of
materna A3243G mtDNA mutation
e reversible hyperglycemia in a patient con MELAS syndrome. |
| Jan
2000 | Maternally inherited diabetes
e deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family.
|
| Jan
2000 | MELAS
con the mitocondriale DNA 3243
mutazioni puntiformi: a neuropathological study.
|
| Jan
2000 | Phenotypic heterogeneity in a Chinese family
con mitocondriale disease
e A3243G mutation of mitocondriale DNA.
|
|
Ottobre
1999 | The diabetes-associated 3243 mutation in the
mitocondriale tRNA(Leu(UUR)) gene causes severe mitocondriale dysfunction
senza a
forte decrease in
proteine synthesis rate.
|
|
Settembre
1999 | Prevalence of macular pattern dystrophy in maternally inherited diabetes
e deafness. GEDIAM Group. |
|
Settembre
1999 | High frequency of mutations in MODY e
mitocondriale genes in Scandinavian patients
con familial early-onset diabetes. |
|
Settembre
1999 | Mitocondriale DNA mutation at np 3243 in a family
con maternally inherited diabetes mellitus.
|
|
Agosto
1999 | Nonrandom tissue distribution of mutant mtDNA. |
|
Agosto
1999 | Flow cytometric evaluation of difetto della
mitocondriale respiratory chain.
|
|
Agosto
1999 | Coordinate induction of energia gene expression in
tessuti of mitocondriale disease patients.
|
|
Luglio
1999 | Mitocondriale 3243 A-->G mutation (MELAS mutation) associated
con painful muscoli stiffness. |
|
Luglio
1999 | Mitocondriale maculopathy: geographic atrophy
della macula in the MELAS associated A to G 3243
mitocondriale DNA
mutazioni puntiformi.
|
| Jun
1999 | Pigmentary retinal dystrophy
e the syndrome of maternally inherited diabetes e deafness causato by the
mitocondriale DNA 3243 tRNA(Leu) A to G mutation. |
| Jun
1999 | Infantile encephalopathy associated
con the MELAS A3243G mutation. |
|
maggio
1999 | Molecular epidemiologic study of mitocondriale DNA mutations in patients
con mitocondriale diseases in Taiwan.
|
| Apr
1999 | Functional
e morphological abnormalities of mitochondria harbouring the tRNA(Leu)(UUR) mutation in
mitocondriale DNA derived from patients
con maternally inherited diabetes
e deafness (MIDD) e progressive kidney disease. |
| Mar
1999 | The
mitocondriale DNA A3243G mutation in Portugal: clinical
e molecular studies in 5 families.
|
| Feb
1999 | Tissue mosaicism in the
scheletrali
muscoli
e sural nerve biopsies in the MELAS syndrome. |
| Feb
1999 | Search
per differences in post-transcriptional modification patterns of
mitocondriale DNA-encoded wild-type
e mutant human tRNALys e tRNALeu(UUR). |
| Jan
1999 | [Diabetes mellitus associated
con the A3243G mutation of mitocondriale DNA. Apropos a case] |
|
dicembre
1998 | Familial occurrence of intestinal obstruction in children
con the syndrome of mitocondriale
encefalomiopatia, lactic acidosis, e stroke-like episodes (MELAS). |
|
dicembre
1998 | A False-Positive Diagnosis per the Common MELAS (A3243G) Mutation Causato by a Novel Variant (A3426G) in the ND1 Gene of Mitochondria DNA. |
|
novembre
1998 | Does mitocondriale genome mutation in subjects
con maternally inherited diabetes
e deafness decrease severity of diabetic retinopathy? |
|
novembre
1998 | Mitocondriale DNA in idiopathic cardiomyopathy. |
|
novembre
1998 | Detection of MELAS mutazione puntiforme A3243G in
muscoli, blood
e hair follicles. |
|
Ottobre
1998 | Detection e quantification della A3243G mutation of
mitocondriale DNA by ligation detection reaction. |
|
Ottobre
1998 | New sensitive method per the detection della A3243G mutation of human
mitocondriale deoxyribonucleic acid in diabetes mellitus patients by ligation-mediated polymerase chain reaction. |
|
Ottobre
1998 | Diagnosis of mitocondriale disease: assessment of
mitocondriale DNA heteroplasmy in blood. |
|
Ottobre
1998 | MELAS e MERRF. The relationship between materna mutation load
e the frequency of clinically affected offspring.
|
|
Ottobre
1998 | Mitocondriale myopathy con predominant respiratory dysfunction in a patient
con A3243G mutation in the mitocondriale tRNA(Leu(UUR))gene. |
|
Agosto
1998 | Sensorineural hearing loss in MELAS syndrome--case report. |
|
Agosto
1998 | Single muscoli fiber analysis in patients con 3243 mutation in
mitocondriale DNA: comparison
con the phenotype
e the proportion of mutant genome. |
|
Agosto
1998 | Neuroradiological features of six kindreds con MELAS tRNA(Leu) A2343G
mutazioni puntiformi: implications per pathogenesis. |
|
Agosto
1998 | epidemiologia of A3243G, the mutation per
mitocondriale
encefalomiopatia, lactic acidosis, e strokelike episodes: prevalence
della mutation in an adult
popolazione.
|
|
Luglio
1998 | [Mitocondriale myopathy, deafness e tipo 2 diabetes mellitus
con tRNALeu(UUR)
mutazioni puntiformi in mitocondriale DNA] |
|
maggio
1998 | Pyruvate dehydrogenase complesso deficiency e altered respiratory chain function in a patient
con Kearns-Sayre/MELAS overlap syndrome
e A3243G mtDNA mutation. |
|
maggio
1998 | The effects of coenzima
Q10 treatment on maternally inherited diabetes mellitus
e deafness, e mitocondriale DNA 3243 (A to G) mutation.
|
| Apr
1998 | A tRNA suppressor mutation in human mitochondria.
|
| Apr
1998 |
Mitocondriale DNA mutations
e oxidative damage in aging e diseases: an emerging paradigm of gerontology
e medicine. |
| Mar
1998 | Cochlear origin of hearing loss in MELAS syndrome. |
| Mar
1998 | Pancreatic exocrine dysfunction associated
con mitocondriale tRNA(Leu)(UUR) mutation. |
| Mar
1998 | [Molecular diagnosis of
mitocondriale disorders] |
| Jan
1998 | Follow-up in
portatori della 'MELAS' mutation senza strokes. |
| Jan
1998 | Level of heteroplasmy
per the mitocondriale mutation A3243G correlates con age at onset of diabetes
e deafness. |
| Jan
1998 | [A new subtype of diabetes mellitus:
maternaly inherited diabetes
e deafness (MIDD)] |
| Jan
1998 |
Mitocondriale DNA analysis in ocular myopathy. Observations in 29 Portuguese patients. |
| Jan
1998 | Maternally-inherited diabetes
e deafness: report of due affected German families con the A3243G
mitocondriale DNA mutation. |
|
dicembre
1997 | A case of mitocondriale encefalomiopatia, lactic acidosis
e stroke-like episodes associated con diabetes mellitus e hypothalamo-pituitary dysfunction. |
|
novembre
1997 | Phenotypic expression of diabetes secondary to a T14709C mutation of
mitocondriale DNA. Comparison
con MIDD syndrome (A3243G mutation): a case report. |
|
novembre
1997 | The common MELAS mutation A3243G in
mitocondriale DNA among young patients
con an occipital brain infarct. |
|
Ottobre
1997 | Molecular pathology of MELAS e MERRF. The relationship between mutation load
e clinical phenotipi.
|
|
Settembre
1997 | Diabetes e mitocondriale encefalomiopatia con lactic acidosis
e stroke-like episodes (MELAS): radiolabeled polymerase chain reaction è necessary
per accurate detection of low percentages of mutation. |
|
Agosto
1997 | Macular pattern retinal dystrophy, adult-onset diabetes,
e deafness: a family study of A3243G mitocondriale heteroplasmy. |
|
Luglio
1997 | Mitocondriale myopathy, encephalopathy, lactic acidosis
e stroke-like episodes (MELAS) triggered by valproate therapy. |
|
Luglio
1997 | The mitocondriale A3243G mutation presenting come severe cardiomyopathy. |
| Jun
1997 | Maternally inherited diabetes
e deafness: prevalence in a hospital diabetic
popolazione. |
| Jun
1997 | Advanced telomere shortening in respiratory chain disorders. |
| Jun
1997 | Optic neuropathy associated
con mitocondriale tRNA[Leu(UUR)] A3243G mutation. |
| Jun
1997 | [Clinical characterizations of familial diabetes mellitus associated
con mitocondriale gene mutation] |
| Apr
1997 | [A case of
mitocondriale
encefalomiopatia showing ophthalmoplegia, diabetes mellitus e hearing loss associated
con the A3243G mutation of mitocondriale DNA] |
| Apr
1997 | Screening
per the mitocondriale DNA A3243G mutation in children con insulin-dependent diabetes mellitus. |
| Apr
1997 | Audiologic findings in patients
con a
mutazioni puntiformi at nucleotide 3,243 of mitocondriale DNA. |
| Feb
1997 | Maternally inherited diabetes
e deafness: a diabetic subtype associated con a mutation in
mitocondriale DNA. |
| Jan
1997 | Quantitative allele-specific PCR: demonstration of age-associated accumulation in human
tessuti della A-->G mutation at nucleotide 3243 in mitocondriale DNA. |
| Jan
1997 | Diabetes mellitus associated
con 3243 mitocondriale tRNA(Leu(UUR)) mutation: clinical features
e coenzima
Q10 treatment.
|
|
Ottobre
1996 | Acute pancreatitis in an infant con lactic acidosis
e a mutation at nucleotide 3243 in the mitocondriale DNA tRNALeu(UUR) gene.
|
|
Ottobre
1996 | Association between HLA e islet cell antibodies in diabetic patients
con a mitocondriale DNA mutation at base pair 3243. |
|
Agosto
1996 | [A sensitive fluorescent assay per the detection e quantification of
mitocondriale 3243 mutation]
|
|
Agosto
1996 | Mitocondriale DNA e RNA processing in MELAS. |
|
Luglio
1996 | The A to G transition at nt 3243 della
mitocondriale tRNALeu(UUR) may cause an MERRF syndrome. |
|
Luglio
1996 | Nephropathy e growth hormone deficiency in a patient
con mitocondriale tRNA(Leu(UUR)) mutation. |
|
Luglio
1996 | Diabetes con the 3243 mitocondriale tRNALeu(UUR) mutation. Characteristic neuroimaging findings. |
| Jun
1996 | MELAS-
e Kearns-Sayre-type co-mutation [corrected] con myopathy e autoimmune polyendocrinopathy.
|
| Jun
1996 | MELAS syndrome associated
con a tandem duplication in the D-loop of mitocondriale DNA.
|
| Apr
1996 | The expanding clinical phenotype
della tRNA(Leu(UUR)) A-->G mutation at np 3243 of
mitocondriale DNA: diabetic embryopathy associated
con mitocondriale cytopathy. |
| Apr
1996 | Clinical phenotipi, insulin secretion,
e insulin sensitivity in kindreds con maternally inherited diabetes e deafness due to
mitocondriale tRNALeu(UUR) gene mutation. |
| Apr
1996 | VACTERL
con the mitocondriale np 3243
mutazioni puntiformi. |
| Feb
1996 | Random mitotic segregation of
mitocondriale DNA in MELAS syndrome. |
| Jan
1996 | Fundus changes in patients
con the mitocondriale DNA
mutazioni puntiformi at posizione 3243. |
| Jan
1996 | MELAS: Clinical
e pathologic correlations con MRI, xenon/CT, e MR spectroscopy. |
| Jan
1996 | Islet cell antibodies in diabetes mellitus associated
con a mitocondriale tRNA(Leu(UUR)) gene mutation.
|
|
dicembre
1995 | [Mitocondriale encephalomyopathies: 3243 mutation
come a central matter]
|
|
novembre
1995 | Mitocondriale gene mutations in familial non-insulin-dependent diabetes mellitus in Taiwan. |
|
Settembre
1995 | Intracellular heteroplasmy per disease-associated
mutazioni puntiformis in mtDNA: implications per disease expression e
evidenza
per mitotic segregation of heteroplasmic units of mtDNA. |
|
Agosto
1995 | mutazioni puntiformi della mitocondriale tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure,
e sensorineural deafness.
|
|
Agosto
1995 | MELAS syndrome associated con diabetes mellitus
e hyperthyroidism: a case report from Taiwan.
|
|
Luglio
1995 | [Detection of a mutation in mitocondriale DNA in a family
con sensorineural deafness
e diabetes mellitus come the predominant clinical features]
|
|
Luglio
1995 | Extra-pancreatic manifestations in diabetes secondary to
mitocondriale DNA
mutazioni puntiformi within the tRNALeu(UUR) gene.
|
| Jun
1995 | The
mitocondriale DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical
e genetic study. |
|
maggio
1995 | Inheritance e expression of mitocondriale DNA
mutazioni puntiformis.
|
|
maggio
1995 | Genotype to phenotype correlations in
mitocondriale encephalomyopathies associated
con the A3243G mutation of mitocondriale DNA.
|
|
maggio
1995 | Mitocondriale DNA (mtDNA) diseases: correlation of genotype to phenotype.
|
| Apr
1995 | A case of diabetic amyotrophy associated
con 3243 mitocondriale tRNA(leu; UUR) mutation
e successful therapy con coenzima
Q10.
|
| Apr
1995 | Prevalence
e clinical characterization of Japanese diabetes mellitus con an A-to-G mutation at nucleotide 3243
della
mitocondriale tRNA(Leu(UUR)) gene.
|
| Jan
1995 | Maternally inherited diabetes
e deafness (MIDD): a distinct subtype of diabetes associated con a
mitocondriale tRNA(Leu)(UUR) gene
mutazioni puntiformi. |
| Jan
1995 | Clinical heterogeneity in
due pedigrees
con the 3243 bp tRNA(Leu(UUR)) mutation of mitocondriale DNA.
|
| Jan
1995 | Heteroplasmic
mitocondriale DNA mutation in a patient
con mitocondriale myopathy, encephalopathy, lactic acidosis
e stroke-like episodes. |
| Jun
1994 | Extreme variability of clinical
sintomi among sibs in a MELAS family correlated
con heteroplasmy
per the mitocondriale A3243G mutation. |
| Jun
1994 | Maternally inherited diabetes
e deafness è a distinct subtype of diabetes e associates con a single
mutazioni puntiformi in the mitocondriale tRNA(Leu(UUR)) gene. |
| Apr
1994 | A subtype of diabetes mellitus associated
con a mutation of mitocondriale DNA. |
| Mar
1994 | Extremely high levels of mutant mtDNAs co-localize
con citocromo c ossidasi-negative ragged-red fibers in patients harboring a
mutazioni puntiformi at nt 3243.
|
| Jan
1994 | Rapid
e noninvasive screening of patients con mitocondriale myopathy.
|
| Jan
1994 |
Mitocondriale myopathy, encephalopathy, lactic acidosis,
e strokelike episodes (MELAS): current concepts. |
| Jan
1994 | Comparison
della relative levels della 3243 (A-->G) mtDNA mutation in heteroplasmic adult
e fetal
tessuti.
|
|
dicembre
1993 | Content of mutant mitocondriale DNA e organ dysfunction in a patient
con a MELAS subgroup of mitocondriale encephalomyopathies.
|
|
maggio
1993 | Sequencing e quantitative assessment of mutant e wild-type
mitocondriale DNA in paraffin sezioni from cases of MELAS.
|
|
maggio
1993 | Quantification of tRNA3243(Leu) mutazioni
puntiformi of mitocondriale DNA in MELAS patients e its effects on
mitocondriale transcription.
|
| Mar
1993 | Increased
mitocondriale DNA in blood vessels
e ragged-red fibers in mitocondriale myopathy, encephalopathy, lactic acidosis,
e stroke-like episodes (MELAS). |
| Mar
1993 | The syndrome of
mitocondriale
encefalomiopatia, lactic acidosis, e strokelike episodes presenting senza stroke. |
|
dicembre
1992 | Marked replicative advantage of human mtDNA carrying a
mutazioni puntiformi che causes the MELAS encefalomiopatia. |
|
dicembre
1992 | Diabetes mellitus associated con a pathogenic
mutazioni puntiformi in mitocondriale DNA. |
|
Ottobre
1992 | Mitocondriale diseases. |
|
Agosto
1992 | Mutation in mitocondriale tRNA(Leu)(UUR) gene in a large pedigree
con maternally transmitted
tipo II diabetes mellitus
e deafness. |
| Apr
1992 | MELAS: clinical features, biochemistry,
e molecular genetics.
|
| Jan
1992 | Melas: an original case
e clinical criteria per diagnosis. |
|
dicembre
1991 | A specific mutazioni puntiformi in the
mitocondriale genome of Caucasians
con MELAS. |
|
Ottobre
1991 | A new mtDNA mutation associated con
mitocondriale myopathy, encephalopathy, lactic acidosis
e stroke-like episodes (MELAS). |
|
Settembre
1991 | respirazione-deficient cellule sono causato by a single
mutazioni puntiformi in the mitocondriale tRNA-Leu (UUR) gene in
mitocondriale myopathy, encephalopathy, lactic acidosis,
e strokelike episodes (MELAS). |
|
dicembre
1990 | A mutazioni puntiformi in the mitocondriale tRNA(Leu)(UUR) gene in MELAS (mitocondriale myopathy, encephalopathy, lactic acidosis
e stroke-like episodes).
|
|
dicembre
1990 | A mutation in the tRNA(Leu)(UUR) gene associated
con the MELAS subgroup of mitocondriale encephalomyopathies.
|
|
Ottobre
1984 | Mitocondriale myopathy, encephalopathy, lactic acidosis,
e strokelike episodes: a distinctive clinical syndrome. |
|
Apr
1981 | Sequence e organization
della human
mitocondriale genome. |
233 Abstracts were listed.
