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

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

Kearns-Sayre syndrome: expanding spectrum of a "novel" mito..:

Moscatelli, Marco ; Ardissone, Anna ; Lamantea, Eleonora...
Neurological Sciences. 43 (2022) 3 - p. 2081-2084 , 2022

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

13

Correction to: Kearns‑Sayre syndrome: expanding spectrum of..:

Moscatelli, Marco ; Ardissone, Anna ; Lamantea, Eleonora...
Neurological Sciences. 43 (2022) 11 - p. 6607-6607 , 2022

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

14

Disorders of Niacin, NAD, and Pantothenate Metabolism:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,

Ardissone, Anna ; Diodato, Daria ; Di Meo, Ivano. - p. 563-576 , 2022

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

15

Validation of the Italian version of the pediatric CMT qual..:

Moroni, Isabella ; Danti, Federica Rachele ; Pareyson, Davide...
Journal of the Peripheral Nervous System. 27 (2022) 2 - p. 127-130 , 2022

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