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Tolve, Manuela
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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/..
 
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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/..
 
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3

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I..:

Novelli, Maria ; Tolve, Manuela ; Quiroz, Vicente...
Movement Disorders Clinical Practice.  , 2024
Link: https://doi.org/10.1002/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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