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Ardissone, Anna
123
results:
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Online (123)
Mediatypes
Articles (Online) (58)
Bookchapter (Online) (1)
OpenAccess-fulltext (64)
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?
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. 107848 , 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. 107849 , 2024
Link:
https://doi.org/10.1016/..
?
5
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/..
?
6
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/..
?
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
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/..
?
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
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/..
?
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
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/..
?
13
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/..
?
14
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/..
?
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/..
1-15