Search Results - Bertoldi, Mariarita

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  1. 1
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    Neurotransmitters: it is all about communication! by Opladen, Thomas (Author) , Bertoldi, Mariarita (Author) ,


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  2. 2
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    Clinical and molecular outcomes from the 5-Year natural history study of SSADH deficiency, a model metabolic neurodevelopmental disorder by Tokatly Latzer, Itay (Author) , Roullet, Jean-Baptiste (Author) , Afshar-Saber, Wardiya (Author) , Lee, Henry H. C. (Author) , Bertoldi, Mariarita (Author) , McGinty, Gabrielle E. (Author) , DiBacco, Melissa L. (Author) , Arning, Erland (Author) , Tsuboyama, Melissa (Author) , Rotenberg, Alexander (Author) , Opladen, Thomas (Author) , Jeltsch, Kathrin (Author) , García-Cazorla, Àngels (Author) , Julià-Palacios, Natalia (Author) , Gibson, K. Michael (Author) , Sahin, Mustafa (Author) , Pearl, Phillip L. (Author) ,


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  3. 3
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    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Himmelreich, Nastassja (Author) , Bertoldi, Mariarita (Author) , Alfadhel, Majid (Author) , Alghamdi, Malak Ali (Author) , Anikster, Yair (Author) , Bao, Xinhua (Author) , Bashiri, Fahad A. (Author) , Zeev, Bruria Ben (Author) , Bisello, Giovanni (Author) , Ceylan, Ahmet Cevdet (Author) , Chien, Yin-Hsiu (Author) , Choy, Yew Sing (Author) , Elsea, Sarah H. (Author) , Flint, Lisa (Author) , García-Cazorla, Àngels (Author) , Gijavanekar, Charul (Author) , Gümüş, Emel Yılmaz (Author) , Hamad, Muddathir H. (Author) , Hişmi, Burcu (Author) , Honzik, Tomas (Author) , Kuseyri Hübschmann, Oya (Author) , Hwu, Wuh-Liang (Author) , Ibáñez-Micó, Salvador (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , Kasapkara, Çiğdem Seher (Author) , Kurian, Manju A. (Author) , Kusmierska, Katarzyna (Author) , Liu, Ning (Author) , Ngu, Lock Hock (Author) , Odom, John D. (Author) , Ong, Winnie Peitee (Author) , Opladen, Thomas (Author) , Oppeboen, Mari (Author) , Pearl, Phillip L. (Author) , Pérez, Belén (Author) , Pons, Roser (Author) , Rygiel, Agnieszka Magdalena (Author) , Shien, Tan Ee (Author) , Spaull, Robert (Author) , Sykut-Cegielska, Jolanta (Author) , Tabarki, Brahim (Author) , Tangeraas, Trine (Author) , Thöny, Beat (Author) , Wassenberg, Tessa (Author) , Wen, Yongxin (Author) , Yakob, Yusnita (Author) , Yin, Jasmine Goh Chew (Author) , Zeman, Jiri (Author) , Blau, Nenad (Author) ,


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  4. 4
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    Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Himmelreich, Nastassja (Author) , Bertoldi, Mariarita (Author) , Alfadhel, Majid (Author) , Alghamdi, Malak Ali (Author) , Anikster, Yair (Author) , Bao, Xinhua (Author) , Bashiri, Fahad A. (Author) , Zeev, Bruria Ben (Author) , Bisello, Giovanni (Author) , Ceylan, Ahmet Cevdet (Author) , Chien, Yin-Hsiu (Author) , Choy, Yew Sing (Author) , Elsea, Sarah H. (Author) , Flint, Lisa (Author) , García-Cazorla, Àngels (Author) , Gijavanekar, Charul (Author) , Gümüş, Emel Yılmaz (Author) , Hamad, Muddathir H. (Author) , Hişmi, Burcu (Author) , Honzik, Tomas (Author) , Kuseyri Hübschmann, Oya (Author) , Hwu, Wuh-Liang (Author) , Ibáñez-Micó, Salvador (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , Kasapkara, Çiğdem Seher (Author) , Kurian, Manju A. (Author) , Kusmierska, Katarzyna (Author) , Liu, Ning (Author) , Ngu, Lock Hock (Author) , Odom, John D. (Author) , Ong, Winnie Peitee (Author) , Opladen, Thomas (Author) , Oppeboen, Mari (Author) , Pearl, Phillip L. (Author) , Pérez, Belén (Author) , Pons, Roser (Author) , Rygiel, Agnieszka Magdalena (Author) , Shien, Tan Ee (Author) , Spaull, Robert (Author) , Sykut-Cegielska, Jolanta (Author) , Tabarki, Brahim (Author) , Tangeraas, Trine (Author) , Thöny, Beat (Author) , Wassenberg, Tessa (Author) , Wen, Yongxin (Author) , Yakob, Yusnita (Author) , Yin, Jasmine Goh Chew (Author) , Zeman, Jiri (Author) , Blau, Nenad (Author) ,


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  5. 5
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    Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals by Badnjarević, Ivana (Author) , Moyer, Kelly (Author) , Bertoldi, Mariarita (Author) , Opladen, Thomas (Author) , Flint, Lisa (Author) ,


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  6. 6
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    Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants by Tokatly Latzer, Itay (Author) , Roullet, Jean-Baptiste (Author) , Cesaro, Samuele (Author) , DiBacco, Melissa L. (Author) , Arning, Erland (Author) , Rotenberg, Alexander (Author) , Lee, Henry H. C. (Author) , Opladen, Thomas (Author) , Jeltsch, Kathrin (Author) , García-Cazorla, Àngels (Author) , Juliá-Palacios, Natalia (Author) , Gibson, K. Michael (Author) , Bertoldi, Mariarita (Author) , Pearl, Phillip L. (Author) ,


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  7. 7
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    Compound heterozygosis in AADC deficiency: a complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins by Longo, Carmen (Author) , Montioli, Riccardo (Author) , Bisello, Giovanni (Author) , Palazzi, Luana (Author) , Mastrangelo, Mario (Author) , Brennenstuhl, Heiko (Author) , Polverino de Laureto, Patrizia (Author) , Opladen, Thomas (Author) , Leuzzi, Vincenzo (Author) , Bertoldi, Mariarita (Author) ,


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  8. 8
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    Succinic semialdehyde dehydrogenase deficiency: in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1 by Brennenstuhl, Heiko (Author) , Didiášová, Miroslava (Author) , Assmann, Birgit (Author) , Bertoldi, Mariarita (Author) , Molla, Gianluca (Author) , Jung-Klawitter, Sabine (Author) , Kuseyri Hübschmann, Oya (Author) , Schröter, Julian (Author) , Opladen, Thomas (Author) , Tikkanen, Ritva (Author) ,


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  9. 9
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    Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook by Himmelreich, Nastassja (Author) , Montioli, Riccardo (Author) , Bertoldi, Mariarita (Author) , Carducci, Carla (Author) , Leuzzi, Vincenzo (Author) , Gemperle, Corinne (Author) , Berner, Todd (Author) , Hyland, Keith (Author) , Thöny, Beat (Author) , Hoffmann, Georg F. (Author) , Voltattorni, Carla B. (Author) , Blau, Nenad (Author) ,


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