Manuela Tolve - Publications, H-index & Citations

Manuela Tolve

sapienza university rome

12H指数

30论文数

323被引数

收录论文 13

发表时间

GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments

International Journal of Molecular Sciences

IF4.9

2026-03-03

OAAI

Sara Biagiotti; Elena Perla; Serafina Manila Guzzo; Manuela Tolve; Francesca Nardecchia; Luigia Rossi; Claudia Carducci; Tiziana Pascucci; Vincenzo Leuzzi; Mauro Magnani

DNAJC12 Disease DNAJC12疾病

Neurology-Genetics

IF3.7

2026-02-01

PREAI

Manti, Filippo; Ricciardi, Giacomina; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Carbone, Maria Teresa; Carducci, Claudia; Mei, Davide; Porta, Francesco; Ortolano, Rita; Candela, Egidio; Burlina, Alberto; Guerrini, Renzo; Pisani, Francesco; Angeloni, Antonio; Leuzzi, Vincenzo

Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study

Seizure: European Journal of Epilepsy

IF0

2026-01-17

OAAI

Mario Mastrangelo; Manuela Tolve; Irene Valenzuela; Giuliana Lentini; Elisa Maria Colacino Cinnante; Barbara Masotto; Stefano D’ Arrigo; Paola Francesca Ajmone; Jessica Rosenblum; Donatella Milani; Agusti Rodriguez-Palmero; Claudia Ciaccio; Anna C. Jansen; Francesco Pisani

Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment Cobalamin C 疾病较轻型可能在新生儿筛查中漏诊：甲酸评估的重要性

International Journal of Neonatal Screening 2025, Vol. 11, Page 77

IF4

2025-09-27

OAAI

Francesca Nardecchia; Agnese De Giorgi; Silvia Santagata; Teresa Giovanniello; Manuela Tolve; Antonio Angeloni; Vincenzo Leuzzi; Francesco Pisani; Claudia Carducci

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review

EUROPEAN JOURNAL OF PEDIATRICS

IF2.6

2024-07-02

OAAI

Mastrangelo, Mario; Manti, Filippo; Ricciardi, Giacomina; Cinnante, Elisa Maria Colacino; Cameli, Noemi; Beatrice, Annachiara; Tolve, Manuela; Pisani, Francesco

Long-term neurological and psychiatric outcomes in patients with aromatic L-amino acid decarboxylase deficiency

PARKINSONISM & RELATED DISORDERS

IF3.4

2022-10-01

PREAI

Manti, Filippo; Mastrangelo, Mario; Battini, Roberta; Carducci, Claudia; Spagnoli, Carlotta; Fusco, Carlo; Tolve, Manuela; Carducci, Carla; Leuzzi, Vincenzo

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance

HUMAN MUTATION

IF3.7

2021-11-15

OAAI

Nuovo, Sara; Baglioni, Valentina; De Mori, Roberta; Tardivo, Silvia; Caputi, Caterina; Ginevrino, Monia; Micalizzi, Alessia; Masuelli, Laura; Federici, Giulia; Casella, Antonella; Lorefice, Elisa; Anello, Danila; Tolve, Manuela; Farini, Donatella; Bertini, Enrico; Zanni, Ginevra; Travaglini, Lorena; Vasco, Gessica; Sette, Claudio; Carducci, Carla; Valente, Enza M.; Leuzzi, Vincenzo

PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder

PARKINSONISM & RELATED DISORDERS

IF3.4

2019-07-01

PREAI

Caputi, C.; Tolve, M.; Galosi, S.; Inghilleri, M.; Carducci, C.; Angeloni, A.; Leuzzi, V.

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-06-01

PREAI

Montioli, Riccardo; Battini, Roberta; Paiardini, Alessandro; Tolve, Manuela; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Voltattorni, Carla Borri

Pyridoxine -5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (vol 122, pg 135, 2017)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-12-01

PREAI

di Salvo, Martino L.; Mastrangelo, Mario; Nogues, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo

Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.•Arg116gln) mutation

MOLECULAR GENETICS AND METABOLISM

IF3.5

2017-09-01

PREAI

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

MOLECULAR GENETICS AND METABOLISM

IF3.5

2015-08-01

PREAI

Carducci, Claudia; Santagata, Silvia; Friedman, Jennifer; Pasquini, Elisabetta; Carducci, Carla; Tolve, Manuela; Angeloni, Antonio; Leuzzi, Vincenzo

VERY EARLY PATTERN OF MOVEMENT DISORDERS IN SEPIAPTERIN REDUCTASE DEFICIENCY

NEUROLOGY

IF8.5

2013-12-10

PREAI

Leuzzi, Vincenzo; Carducci, Claudia; Tolve, Manuela; Giannini, Maria Teresa; Angeloni, Antonio; Carducci, Carla

研究方向