| Go | Date | Title |
 |
Agosto
2003 | The Spectrum of Systemic Involvement in Adults Presenting
con Renal Lesion e Mitocondriale tRNA(Leu) Gene Mutation.
|
|
Luglio
2003 | Etiological investigation of diabetes in young adults presenting
con apparent
tipo 2 diabetes.
|
|
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.
|
|
Settembre
2002 | Clinical phenotype, prognosis e mitocondriale DNA mutation load in
mitocondriale encephalomyopathies.
|
|
Agosto
2002 | Can mitocondriale DNA mutations cause sperm dysfunction?
|
|
Luglio
2002 | Defining the importance of mitocondriale gene
difetto in maternally inherited diabetes by sequencing the entire
mitocondriale genome. |
|
maggio
2002 | External ophthalmoplegia con severe progressive multiorgan involvement associated
con the mtDNA A3243G mutation.
|
|
maggio
2002 | Contribution of conosciuto e unknown susceptibility genes to early-onset diabetes in scandinavia:
evidenza
per heterogeneity.
|
|
maggio
2002 | Progressive cardiomyopathy come manifestation of
mitocondriale disease.
|
|
Settembre
2001 | Mitocondriale gene mutations in the tRNA(Leu(UUR)) region
e diabetes: prevalence e clinical phenotipi in Japan. |
|
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.
|
|
maggio
2001 | Mitocondriale DNA transfer RNA gene sequence variations in patients
con mitocondriale disorders. |
|
maggio
2001 | Insulin secretion e insulin sensitivity sono normal in non-diabetic subjects from
materna inheritance diabetes
e deafness families.
|
| Apr
2001 | Clinical
e pathologic features of focal segmental glomerulosclerosis con
mitocondriale tRNALeu(UUR) gene mutation.
|
| Apr
2001 | Familial early-onset
tipo 2 diabetes in Chinese patients: obesity
e genetics hanno più significant roles than autoimmunity. |
| Apr
2001 | Hearing impairment in patients
con 3243A-->G mtDNA mutation: phenotype
e rate of progression.
|
| Mar
2001 | Involvement of nervous system in maternally inherited diabetes
e deafness (MIDD) con the A3243G mutation of mitocondriale DNA.
|
| Mar
2001 | Search
per mitocondriale A3243G tRNA(Leu) mutation in Polish patients con tipo 2 diabetes mellitus. |
| Feb
2001 | Random genetic drift determines the level of mutant mtDNA in human primary oocytes.
|
| Feb
2001 | De novo mutation in the
mitocondriale tRNALeu(UUR) gene (A3243G)
con rapid segregation resulting in MELAS in the offspring.
|
| Jan
2001 | Nail-patella syndrome associated
con respiratory chain disorder.
|
| Jan
2001 |
Mitocondriale enteropathy: the primary pathology may not be within the gastrointestinal tract.
|
|
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 | Doleris LM, Hill GS, Chedin P, Nochy D, Bellanne-Chantelot C, Hanslik T, Bedrossian J, Caillat-Zucman S, Cahen-Varsaux J, Bariety J.
|
|
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).
|
|
Luglio
2000 | Higher proportion of mitocondriale A3243G mutation in blood than in
scheletrali
muscoli in a patient
con cardiomyopathy
e hearing loss.
|
|
Luglio
2000 | Assessing the relative incidence of mitocondriale DNA A3243G in migraine
senza aura
con materna inheritance.
|
| 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 | Mitocondriale DNA A3243G mutation in patients con early-
o late-onset
tipo 2 diabetes mellitus in Hong Kong Chinese.
|
|
maggio
2000 | Heterogeneous presentation in A3243G mutation in the
mitocondriale tRNA(Leu(UUR)) gene. |
| Mar
2000 | Decreased aminoacylation of mutant tRNAs in MELAS
ma not in MERRF patients.
|
| Mar
2000 | The np 3243 MELAS mutation: damned if you aminoacylate, damned if you dont. |
| Feb
2000 | Single-fiber analysis of
mitocondriale A3243G mutation in four different phenotipi.
|
| Jan
2000 | The spectrum of hearing loss due to
mitocondriale DNA
difetto. |
| Jan
2000 | MELAS
con the mitocondriale DNA 3243
mutazioni puntiformi: a neuropathological study.
|
|
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 | Mitocondriale DNA mutation at np 3243 in a family
con maternally inherited diabetes mellitus.
|
|
Agosto
1999 | Coordinate induction of energia gene expression in
tessuti of mitocondriale disease patients.
|
|
Agosto
1999 | Nonrandom tissue distribution of mutant mtDNA. |
| Feb
1999 | Search
per differences in post-transcriptional modification patterns of
mitocondriale DNA-encoded wild-type
e mutant human tRNALys e tRNALeu(UUR). |
|
Ottobre
1998 | MELAS e MERRF. The relationship between materna mutation load
e the frequency of clinically affected offspring.
|
|
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. |
|
Agosto
1998 | Neuroradiological features of six kindreds con MELAS tRNA(Leu) A2343G
mutazioni puntiformi: implications per pathogenesis. |
|
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. |
| Jun
1997 | Advanced telomere shortening in respiratory chain disorders. |
|
dicembre
1992 | Marked replicative advantage of human mtDNA carrying a
mutazioni puntiformi che causes the MELAS encefalomiopatia. |
50 Abstracts were listed.
