Marianna Tolve

Affiliations

Neurodevelopmental Genetics, Institute of Reconstructive Neurobiology, University of Bonn School of Medicine & University Hospital Bonn, Bonn, Germany.

Publications (17)

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Journal of inherited metabolic disease

Avec: Laura Marti-Sanchez , Heidy Baide-Mairena , Anna Marcé-Grau , Roser Pons , Anastasia Skouma , Eduardo López-Laso , Maria Sigatullina , Cristiano Rizzo , Michela Semeraro , Diego Martinelli , Rosalba Carrozzo , Carlo Dionisi-Vici , Luis González-Gutiérrez-Solana , Marta Correa-Vela , Juan Dario Ortigoza-Escobar , Ángel Sánchez-Montañez , Élida Vazquez , Ignacio Delgado , Sergio Aguilera-Albesa , María Eugenia Yoldi , Antonia Ribes , Frederic Tort , Luca Pollini , Serena Galosi , Vincenzo Leuzzi , Manuela Tolve , Laura Pérez-Gay , Luis Aldamiz-Echevarría , Mireia Del Toro , Antonio Arranz , Filip Roelens , Roser Urreizti , Rafael Artuch , Alfons Macaya , Belén Pérez-Dueñas

The Impact of Mitochondrial Dysfunction on Dopaminergic Neurons in the Olfactory Bulb and Odor Detection.

Molecular neurobiology

Avec: Thomas Paß , Marlene Aßfalg , Marianna Tolve , Sandra Blaess , Markus Rothermel , Rudolf J Wiesner , Konrad M Ricke

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

European journal of pediatrics

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

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

Molecular genetics and metabolism

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

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

Human mutation

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

Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.

Seizure

Avec: Mario Mastrangelo , Carlo Greco , Manuela Tolve , Emanuele Bartolini , Angelo Russo , Francesco Nicita , Dario Pruna , Jessica Galli , Jacopo Favaro , Gaetano Terrone , Claudio De Felice , Francesco Pisani

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

Parkinsonism & related disorders

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

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

JIMD reports

Avec: Carla Carducci , Wajdi Amayreh , Haneen Ababneh , Amjad Mahasneh , Buthaina Al Rababah , Kefah Al Qaqa , Momen Al Aqeel , Cristiana Artiola , Manuela Tolve , Sirio D'Amici , Nan Shen , Yongguo Yu , Alicia Hillert , Nastassja Himmelreich , Jürgen G Okun , Georg F Hoffmann , Nenad Blau

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

Parkinsonism & related disorders

Avec: C Caputi , M Tolve , S Galosi , M Inghilleri , C Carducci , A Angeloni , V Leuzzi

The transcription factor BCL11A defines distinct subsets of midbrain dopaminergic neurons.

Cell reports

Avec: Marianna Tolve , Ayse Ulusoy , Nikolaos Patikas , K Ushna S Islam , Gabriela O Bodea , Ece Öztürk , Bianca Broske , Astrid Mentani , Antonia Wagener , Karen M J van Loo , Stefan Britsch , Pengtao Liu , Walid T Khaled , Emmanouil Metzakopian , Stephan L Baader , Donato A Di Monte , Sandra Blaess

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Genes

Avec: Mario Mastrangelo , Manuela Tolve , Cristiana Artiola , Rossella Bove , Claudia Carducci , Carla Carducci , Antonio Angeloni , Francesco Pisani , Vincenzo Leuzzi

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Movement disorders clinical practice

Avec: Maria Novelli , Manuela Tolve , Vicente Quiroz , Claudia Carducci , Rossella Bove , Giacomina Ricciardi , Kathryn Yang , Filippo Manti , Francesco Pisani , Darius Ebrahimi-Fakhari , Serena Galosi , Vincenzo Leuzzi

A trait database and updated checklist for European subterranean spiders.

Scientific data

Avec: Stefano Mammola , Martina Pavlek , Bernhard A Huber , Marco Isaia , Francesco Ballarin , Marco Tolve , Iva Čupić , Thomas Hesselberg , Enrico Lunghi , Samuel Mouron , Caio Graco-Roza , Pedro Cardoso

The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study.

Epilepsy & behavior : E&B

Avec: Mario Mastrangelo , Filippo Manti , Giacomina Ricciardi , Rossella Bove , Carlo Greco , Manuela Tolve , Francesco Pisani

Multiple sclerosis and intracellular cobalamin defect (

Molecular genetics and metabolism reports

Avec: Luca Pollini , Manuela Tolve , Francesca Nardecchia , Serena Galosi , Claudia Carducci , Emanuele di Carlo , Carla Carducci , Vincenzo Leuzzi

Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences

Avec: Emanuele Di Carlo , Silvia Santagata , Luca Sauro , Manuela Tolve , Filippo Manti , Vincenzo Leuzzi , Antonio Angeloni , Claudia Carducci

Autophagy regulates neuronal excitability by controlling cAMP/protein kinase A signaling at the synapse.

The EMBO journal

Avec: Melina Overhoff , Frederik Tellkamp , Simon Hess , Marianna Tolve , Janine Tutas , Marcel Faerfers , Lotte Ickert , Milad Mohammadi , Elodie De Bruyckere , Emmanouela Kallergi , Andrea Delle Vedove , Vassiliki Nikoletopoulou , Brunhilde Wirth , Joerg Isensee , Tim Hucho , Dmytro Puchkov , Dirk Isbrandt , Marcus Krueger , Peter Kloppenburg , Natalia L Kononenko

Réseau de co-auteurs

Manuela Tolve 12 collaborations

Vincenzo Leuzzi 8 collaborations

Carla Carducci 6 collaborations

Mario Mastrangelo 5 collaborations

Filippo Manti 5 collaborations

Francesco Pisani 5 collaborations

Claudia Carducci 5 collaborations

Serena Galosi 3 collaborations

Giacomina Ricciardi 3 collaborations

Rossella Bove 3 collaborations

Luca Pollini 2 collaborations

Sandra Blaess 2 collaborations

Roberta Battini 2 collaborations

Carlo Greco 2 collaborations

Cristiana Artiola 2 collaborations

Antonio Angeloni 2 collaborations

Laura Marti-Sanchez 1 collaboration

Heidy Baide-Mairena 1 collaboration

Anna Marcé-Grau 1 collaboration

Roser Pons 1 collaboration

Anastasia Skouma 1 collaboration

Eduardo López-Laso 1 collaboration

Maria Sigatullina 1 collaboration

Cristiano Rizzo 1 collaboration

Michela Semeraro 1 collaboration

Diego Martinelli 1 collaboration

Rosalba Carrozzo 1 collaboration

Carlo Dionisi-Vici 1 collaboration

Luis González-Gutiérrez-Solana 1 collaboration

Marta Correa-Vela 1 collaboration

Juan Dario Ortigoza-Escobar 1 collaboration

Ángel Sánchez-Montañez 1 collaboration

Élida Vazquez 1 collaboration

Ignacio Delgado 1 collaboration

Sergio Aguilera-Albesa 1 collaboration

María Eugenia Yoldi 1 collaboration

Antonia Ribes 1 collaboration

Frederic Tort 1 collaboration

Laura Pérez-Gay 1 collaboration

Luis Aldamiz-Echevarría 1 collaboration

Mireia Del Toro 1 collaboration

Antonio Arranz 1 collaboration

Filip Roelens 1 collaboration

Roser Urreizti 1 collaboration

Rafael Artuch 1 collaboration

Alfons Macaya 1 collaboration

Belén Pérez-Dueñas 1 collaboration

Thomas Paß 1 collaboration

Marlene Aßfalg 1 collaboration

Markus Rothermel 1 collaboration

Rudolf J Wiesner 1 collaboration

Konrad M Ricke 1 collaboration

Elisa Maria Colacino Cinnante 1 collaboration

Noemi Cameli 1 collaboration

Annachiara Beatrice 1 collaboration

Riccardo Montioli 1 collaboration

Alessandro Paiardini 1 collaboration

Mariarita Bertoldi 1 collaboration

Carla Borri Voltattorni 1 collaboration

Sara Nuovo 1 collaboration

Valentina Baglioni 1 collaboration

Roberta De Mori 1 collaboration

Silvia Tardivo 1 collaboration

Caterina Caputi 1 collaboration

Monia Ginevrino 1 collaboration

Alessia Micalizzi 1 collaboration

Laura Masuelli 1 collaboration

Giulia Federici 1 collaboration

Antonella Casella 1 collaboration

Elisa Lorefice 1 collaboration

Danila Anello 1 collaboration

Donatella Farini 1 collaboration

Enrico Bertini 1 collaboration

Ginevra Zanni 1 collaboration

Lorena Travaglini 1 collaboration

Gessica Vasco 1 collaboration

Claudio Sette 1 collaboration

Enza M Valente 1 collaboration

Emanuele Bartolini 1 collaboration

Angelo Russo 1 collaboration

Francesco Nicita 1 collaboration

Dario Pruna 1 collaboration

Jessica Galli 1 collaboration

Jacopo Favaro 1 collaboration

Gaetano Terrone 1 collaboration

Claudio De Felice 1 collaboration

Carlotta Spagnoli 1 collaboration

Carlo Fusco 1 collaboration

Wajdi Amayreh 1 collaboration

Haneen Ababneh 1 collaboration

Amjad Mahasneh 1 collaboration

Buthaina Al Rababah 1 collaboration

Kefah Al Qaqa 1 collaboration

Momen Al Aqeel 1 collaboration

Sirio D'Amici 1 collaboration

Nan Shen 1 collaboration

Yongguo Yu 1 collaboration

Alicia Hillert 1 collaboration

Nastassja Himmelreich 1 collaboration

Jürgen G Okun 1 collaboration

Georg F Hoffmann 1 collaboration

Nenad Blau 1 collaboration

C Caputi 1 collaboration

M Tolve 1 collaboration

S Galosi 1 collaboration

M Inghilleri 1 collaboration

C Carducci 1 collaboration

A Angeloni 1 collaboration

V Leuzzi 1 collaboration

Ayse Ulusoy 1 collaboration

Nikolaos Patikas 1 collaboration

K Ushna S Islam 1 collaboration

Gabriela O Bodea 1 collaboration

Ece Öztürk 1 collaboration

Bianca Broske 1 collaboration

Astrid Mentani 1 collaboration

Antonia Wagener 1 collaboration

Karen M J van Loo 1 collaboration

Stefan Britsch 1 collaboration

Pengtao Liu 1 collaboration

Walid T Khaled 1 collaboration

Emmanouil Metzakopian 1 collaboration

Stephan L Baader 1 collaboration

Donato A Di Monte 1 collaboration

Maria Novelli 1 collaboration

Vicente Quiroz 1 collaboration

Kathryn Yang 1 collaboration

Darius Ebrahimi-Fakhari 1 collaboration

Stefano Mammola 1 collaboration

Martina Pavlek 1 collaboration

Bernhard A Huber 1 collaboration

Marco Isaia 1 collaboration

Francesco Ballarin 1 collaboration

Marco Tolve 1 collaboration

Iva Čupić 1 collaboration

Thomas Hesselberg 1 collaboration

Enrico Lunghi 1 collaboration

Samuel Mouron 1 collaboration

Caio Graco-Roza 1 collaboration

Pedro Cardoso 1 collaboration

Francesca Nardecchia 1 collaboration

Emanuele di Carlo 1 collaboration

Emanuele Di Carlo 1 collaboration

Silvia Santagata 1 collaboration

Luca Sauro 1 collaboration

Melina Overhoff 1 collaboration

Frederik Tellkamp 1 collaboration

Simon Hess 1 collaboration

Janine Tutas 1 collaboration

Marcel Faerfers 1 collaboration

Lotte Ickert 1 collaboration

Milad Mohammadi 1 collaboration

Elodie De Bruyckere 1 collaboration

Emmanouela Kallergi 1 collaboration

Andrea Delle Vedove 1 collaboration

Vassiliki Nikoletopoulou 1 collaboration

Brunhilde Wirth 1 collaboration

Joerg Isensee 1 collaboration

Tim Hucho 1 collaboration

Dmytro Puchkov 1 collaboration

Dirk Isbrandt 1 collaboration

Marcus Krueger 1 collaboration

Peter Kloppenburg 1 collaboration

Natalia L Kononenko 1 collaboration