Pubblicazioni

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism

2023 - GENES

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

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

2023 - JOURNAL OF INHERITED METABOLIC DISEASE

YÄ±ldÄ±z, YÄ±lmaz; Kuseyri HÃ¼bschmann, Oya; AkgÃ¶z KaraosmanoÄlu, AyÃ§a; Manti, Filippo; Karaca, Meryem; Schwartz, Ida Vanessa D; Pons, Roser; LÃ³pez-Laso, Eduardo; Palacios, Natalia Alexandra Julia; Porta, Francesco; Kavecan, Ivana; BalcÄ±, Mehmet Cihan; Dy-Hollins, Marisela E; Wong, Suet-Na; OppebÃ¸en, Mari; Medeiros, Leonardo SimÃ£o; de Paula, Leila Cristina Pedroso; GarcÃa-Cazorla, Angeles; Hoffmann, Georg F; Jeltsch, Kathrin; Leuzzi, Vincenzo; GÃ¶kÃ§ay, GÃ¼lden; HÃ¼bschmann, Daniel; Harting, Inga; ÃzÃ¶n, Z Alev; Sivri, Serap; Opladen, Thomas

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

2021 - NATURE COMMUNICATIONS

Kuseyri HÃ¼bschmann, Oya; Horvath, Gabriella; CortÃ¨s-Saladelafont, Elisenda; YÄ±ldÄ±z, YÄ±lmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios I.; KulhÃ¡nek, Jan; Kurian, Manju A.; LÃ³pez-Laso, Eduardo; OppebÃ¸en, Mari; KÄ±lavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-BÃ¼rgi, Sabine; Porta, Francesco; HonzÃk, TomÃ¡Å¡; Santer, RenÃ©; Burlina, Alberto; Sivri, H. Serap; Leuzzi, Vincenzo; Hoffmann, Georg F.; Jeltsch, Kathrin; HÃ¼bschmann, Daniel; Garbade, Sven F.; Assmann, Birgit; Fung, Cheuk-Wing; Guder, Philipp; Hong, Stacey Tay Kiat; Karall, Daniela; Kato, Mitsuhiro; Kavecan, Ivana; Koht, Jeanette Aimee; Kuster, Alice; LÃ¼cke, Thomas; Manti, Filippo; Mir, Pablo; MÃ¼hlhausen, Chris; Ãnenli Mungan, Halise Neslihan; Palacios, Natalia Alexandra Julia; Ramos, JoaquÃn Alejandro FernÃ¡ndez; Steel, Dora; StevanoviÄ, Galina; Sykut-Cegielska, Jolanta; Verbeek, Marcel M.; GarcÃa-Cazorla, Angeles; Opladen, Thomas

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

2020 - JOURNAL OF INHERITED METABOLIC DISEASE

Pearson, Toni S; Gilbert, Laura; Opladen, Thomas; Garcia-Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K H; Sykut-Cegielska, Jolanta; Pons, Roser; Mercimek-Andrews, Saadet; Kato, Mitsuhiro; LÃ¼cke, Thomas; OppebÃ¸en, Mari; Kurian, Manju A; Steel, Dora; Manti, Filippo; Meeks, Kathleen D; Jeltsch, Kathrin; Flint, Lisa

Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome

2018 - MOVEMENT DISORDERS CLINICAL PRACTICE

Mastrangelo, Mario; Manti, Filippo; PatanÃ¨, Luisa; Ferrari, Stefania; Carducci, Carla; Carducci, Claudia; Mangili, Giovanna; Leuzzi, Vincenzo

Neurotransmitter trafficking defect in a patient with clathrin (cltc) variation presenting with intellectual disability and early-onset parkinsonism

2018 - PARKINSONISM & RELATED DISORDERS

Manti, F; Nardecchia, F; Barresi, S; Venditti, M; Pizzi, S; Hamdan, Ff; Blau, N; Burlina, A; Tartaglia, M; Leuzzi, V