E-LIB Suche - Ergebnisse für: Ardissone, Anna

1

A natural history study of late-infantile and juvenile GM1 ..:

Giugliani, Roberto ; Harmatz, Paul ; Héron, Bénédicte...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107850 , 2024

Link: https://doi.org/10.1016/..

2

A natural history study of late-infantile and juvenile GM1 ..:

Giugliani, Roberto ; Harmatz, Paul ; Héron, Bénédicte...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107849 , 2024

Link: https://doi.org/10.1016/..

3

Management of seizures in patients with primary mitochondri..:

Mancuso, Michelangelo ; Papadopoulou, Maria T. ; Ng, Yi Shiau...
European Journal of Neurology. 31 (2024) 7 - p. , 2024

Link: https://doi.org/10.1111/..

4

A natural history study of late-infantile and juvenile GM1 ..:

Giugliani, Roberto ; Harmatz, Paul ; Héron, Bénédicte...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107848 , 2024

Link: https://doi.org/10.1016/..

5

Nutritional status of children affected by X‐linked adrenol..:

Moroni, Isabella ; De Amicis, Ramona ; Ardissone, Anna..
Journal of Human Nutrition and Dietetics. 36 (2023) 4 - p. 1316-1326 , 2023

Link: https://doi.org/10.1111/..

6

258th ENMC international workshop Leigh syndrome spectrum: ..:

Diodato, Daria ; Schiff, Manuel ; Cohen, Bruce H....
Neuromuscular Disorders. 33 (2023) 8 - p. 700-709 , 2023

Link: https://doi.org/10.1016/..

7

Correction to: Antibody Deficiency in Patients with Biallel..:

Saettini, Francesco ; Guerra, Fabiola ; Fazio, Grazia...
Journal of Clinical Immunology. 43 (2023) 8 - p. 2126-2126 , 2023

Link: https://doi.org/10.1007/..

8

NGS-Based Genetic Analysis in a Cohort of Italian Patients ..:

Invernizzi, Federica ; Izzo, Rossella ; Colangelo, Isabel...
Genes. 14 (2023) 7 - p. 1393 , 2023

Link: https://doi.org/10.3390/..

9

Phenotyping mitochondrial DNA‐related diseases in childhood..:

Ardissone, Anna ; Ferrera, Giulia ; Lamperti, Costanza...
European Journal of Neurology. 30 (2023) 7 - p. 2079-2091 , 2023

Link: https://doi.org/10.1111/..

10

Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome ..:

Brugnoni, Raffaella ; Marelli, Daria ; Iacomino, Nicola...
Genes. 14 (2023) 9 - p. 1753 , 2023

Link: https://doi.org/10.3390/..

11

Antibody Deficiency in Patients with Biallelic KARS1 Mutati..:

Saettini, Francesco ; Guerra, Fabiola ; Fazio, Grazia...
Journal of Clinical Immunology. 43 (2023) 8 - p. 2115-2125 , 2023

Link: https://doi.org/10.1007/..

12

Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome ..:

Raffaella Brugnoni ; Daria Marelli ; Nicola Iacomino...
https://dx.doi.org/10.3390/genes14091753. , 2023

Link: https://doi.org/10.3390/..

13

NGS-Based Genetic Analysis in a Cohort of Italian Patients ..:

Federica Invernizzi ; Rossella Izzo ; Isabel Colangelo...
Human Genomics and Genetic Diseases. , 2023

Link: https://doi.org/10.3390/..

14

Expert Panel Curation of 113 Primary Mitochondrial Disease ..:

McCormick, Elizabeth M ; Keller, Kierstin ; Taylor, Julie P...
https://discovery.ucl.ac.uk/id/eprint/10175738/1/Annals%20of%20Neurology%20-%202023%20-%20McCormick.pdf. , 2023

Link: https://discovery.ucl.ac..

15

Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome ..:

Raffaella Brugnoni ; Daria Marelli ; Nicola Iacomino...
https://www.mdpi.com/2073-4425/14/9/1753. , 2023

Link: https://doi.org/10.3390/..