Suchergebnisse - "Garone, Caterina"

PubPharm (120)

51

Retrospective natural history of thymidine kinase 2 deficiency

enthalten in: Journal of medical genetics | 2018

von Garone, C. | Taylor, R. | Nascimento, A. | +40

52

DEOXYNUCLEOSIDE THERAPY FOR DISEASES CAUSED BY UNBALANCED NUCLEOTIDE POOLS INCLUDING MITOCHONDRIAL DNA DEPLETION SYNDROMES

enthalten in: Europäisches Patentamt | 2018

von HIRANO MICHIO | GARONE CATERINA | MARTI RAMON

53

DEOXYNUCLEOSIDE THERAPY FOR DISEASES CAUSED BY UNBALANCED NUCLEOTIDE POOLS INCLUDING MITOCHONDRIAL DNA DEPLETION SYNDROMES

enthalten in: Europäisches Patentamt | 2018

von HIRANO MICHIO | GARONE CATERINA | MARTI RAMON

54

미토콘드리아 DNA 고갈 증후군을 포함하는 불균형 뉴클레오타이드 풀에 의해 야기된 질환에 대한 데옥시뉴클레오타이드 요법

enthalten in: Europäisches Patentamt | 2018

von HIRANO MICHIO | GARONE CATERINA | MARTI RAMON

55

미토콘드리아 DNA 고갈 증후군을 포함하는 불균형 뉴클레오타이드 풀에 의해 야기된 질환에 대한 데옥시뉴클레오타이드 요법

enthalten in: Europäisches Patentamt | 2018

von HIRANO MICHIO | GARONE CATERINA | MARTI RAMON

56

Mitochondrial Neurogastrointestinal Encephalomyopathy : Into the Fourth Decade, What We Have Learned So Far

enthalten in: Frontiers in genetics | 2018

von Pacitti, D. | Levene, M. | Garone, C. | +2

57

DEOXYNUCLEOSIDE THERAPY FOR DISEASES CAUSED BY UNBALANCED NUCLEOTIDE POOLS INCLUDING MITOCHONDRIAL DNA DEPLETION SYNDROMES

enthalten in: Europäisches Patentamt | 2018

von HIRANO MICHIO | GARONE CATERINA | MARTI RAMON

58

DEOXYNUCLEOSIDE THERAPY FOR DISEASES CAUSED BY UNBALANCED NUCLEOTIDE POOLS INCLUDING MITOCHONDRIAL DNA DEPLETION SYNDROMES

enthalten in: Europäisches Patentamt | 2018

von HIRANO MICHIO | GARONE CATERINA | MARTI RAMON

59

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

enthalten in: Brain : a journal of neurology | 2018

von Kullar, P. | Gomez-Duran, A. | Gammage, P. | +10

60

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

enthalten in: Human molecular genetics | 2017

von Garone, C. | D'Souza, A. | Dallabona, C. | +13