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Tolve, Manuela
39
results:
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Format
Online (39)
Mediatypes
Articles (Online) (21)
OpenAccess-fulltext (18)
Sorted by: Relevance
Sorted by: Year
?
1
The diagnostic and prognostic role of cerebrospinal fluid b..:
Mastrangelo, Mario
;
Manti, Filippo
;
Ricciardi, Giacomina
...
European Journal of Pediatrics. , 2024
Link:
https://doi.org/10.1007/..
?
2
Epilepsy phenotypes across the different age-ranges in IQSE..:
Mastrangelo, Mario
;
Greco, Carlo
;
Tolve, Manuela
...
Seizure: European Journal of Epilepsy. 119 (2024) - p. 119-127 , 2024
Link:
https://doi.org/10.1016/..
?
3
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I..:
Novelli, Maria
;
Tolve, Manuela
;
Quiroz, Vicente
...
Movement Disorders Clinical Practice. , 2024
Link:
https://doi.org/10.1002/..
?
4
The burden of epilepsy on long-term outcome of genetic deve..:
Mastrangelo, Mario
;
Manti, Filippo
;
Ricciardi, Giacomina
...
Epilepsy & Behavior. 152 (2024) - p. 109670 , 2024
Link:
https://doi.org/10.1016/..
?
5
Phenotypes and Genotypes of Inherited Disorders of Biogenic..:
Mastrangelo, Mario
;
Tolve, Manuela
;
Artiola, Cristiana
...
Genes. 14 (2023) 2 - p. 263 , 2023
Link:
https://doi.org/10.3390/..
?
6
Long-term neurological and psychiatric outcomes in patients..:
Manti, Filippo
;
Mastrangelo, Mario
;
Battini, Roberta
...
Parkinsonism & Related Disorders. 103 (2022) - p. 105-111 , 2022
Link:
https://doi.org/10.1016/..
?
7
Simultaneous determination of 5-hydroxytryptophan and 3-O-m..:
Di Carlo, Emanuele
;
Santagata, Silvia
;
Sauro, Luca
...
Journal of Chromatography B. 1185 (2021) - p. 122999 , 2021
Link:
https://doi.org/10.1016/..
?
8
KCND3-Related Neurological Disorders: From Old to Emerging ..:
Pollini, Luca
;
Galosi, Serena
;
Tolve, Manuela
...
International Journal of Molecular Sciences. 21 (2020) 16 - p. 5802 , 2020
Link:
https://doi.org/10.3390/..
?
9
Multiple sclerosis and intracellular cobalamin defect (MMAC..:
Pollini, Luca
;
Tolve, Manuela
;
Nardecchia, Francesca
...
Molecular Genetics and Metabolism Reports. 22 (2020) - p. 100560 , 2020
Link:
https://doi.org/10.1016/..
?
10
Molecular genetics of phenylketonuria and tetrahydrobiopter..:
Carducci, Carla
;
Amayreh, Wajdi
;
Ababneh, Haneen
...
JIMD Reports. 55 (2020) 1 - p. 59-67 , 2020
Link:
https://doi.org/10.1002/..
?
11
Delineating the neurological phenotype in children with def..:
Marti‐Sanchez, Laura
;
Baide‐Mairena, Heidy
;
Marcé‐Grau, Anna
...
Journal of Inherited Metabolic Disease. 44 (2020) 2 - p. 401-414 , 2020
Link:
https://doi.org/10.1002/..
?
12
A novel compound heterozygous genotype associated with arom..:
Montioli, Riccardo
;
Battini, Roberta
;
Paiardini, Alessandro
...
Molecular Genetics and Metabolism. 127 (2019) 2 - p. 132-137 , 2019
Link:
https://doi.org/10.1016/..
?
13
PRICKLE1‐related early onset epileptic encephalopathy:
Mastrangelo, Mario
;
Tolve, Manuela
;
Martinelli, Martina
...
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2841-2845 , 2018
Link:
https://doi.org/10.1002/..
?
14
Molecular Analysis of PKU-Associated PAH Mutations: A Fast ..:
Tolve, Manuela
;
Artiola, Cristiana
;
Pasquali, Amelia
...
Methods and Protocols. 1 (2018) 3 - p. 30 , 2018
Link:
https://doi.org/10.3390/..
?
15
Corrigendum to "Pyridoxine-5′-phosphate oxidase (Pnpo) defi..:
di Salvo, Martino L.
;
Mastrangelo, Mario
;
Nogués, Isabel
...
Molecular Genetics and Metabolism. 125 (2018) 4 - p. 359 , 2018
Link:
https://doi.org/10.1016/..
1-15