Suchergebnisse - "Garone, Caterina"

PubPharm (120)

61

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

enthalten in: American journal of human genetics | 2017

von Feichtinger, R. | Oláhová, M. | Kishita, Y. | +36

62

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency

enthalten in: Annals of neurology | 2017

von Lopez-Gomez, C. | Levy, R. | Sanchez-Quintero, M. | +6

63

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder

enthalten in: Journal of child neurology | 2017

von Garone, C. | Gurgel-Giannetti, J. | Sanna-Cherchi, S. | +4

64

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder

enthalten in: Journal of child neurology | 2017

von Garone, C. | Gurgel-Giannetti, J. | Sanna-Cherchi, S. | +4

65

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency

enthalten in: Annals of neurology | 2017

von Lopez‐Gomez, C. | Levy, R. | Sanchez‐Quintero, M. | +6

66

NUCLEOTIDE POOLS INCLUDING MITOCHONDRIAL DNA DEPLETION SYNDROMES

enthalten in: Europäisches Patentamt | 2016

von HIRANO MICHIO | GARONE CATERINA | MARTI RAMON

67

NUCLEOTIDE POOLS INCLUDING MITOCHONDRIAL DNA DEPLETION SYNDROMES

enthalten in: Europäisches Patentamt | 2016

von HIRANO MICHIO | GARONE CATERINA | MARTI RAMON

68

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

enthalten in: American journal of human genetics | 2016

von Harel, T. | Yoon, W. | Garone, C. | +47

69

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

enthalten in: American journal of human genetics | 2016

von Harel, T. | Yoon, W. | Garone, C. | +45

70

Fhl1 W122S causes loss of protein function and late-onset mild myopathy

enthalten in: Human molecular genetics | 2015

von Emmanuele, V. | Kubota, A. | Garcia-Diaz, B. | +9