All papers authored by Niccolò Emanuele Mencacci
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Volker Kittke,
Ivana Dzinovic,
Friederike Borngräber ,
Mirja Thomsen,
Vanessa Mandel,
Tatiana Svorenova,
Miriam Ostrozovicova ,
Kristina Kulcsarova,
Riccardo Berutti,
Hauke Busch,
Fabian Ott,
Robert Kopajtich,
Holger Prokisch
and 13 other authors
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
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Deborah Raymond,
Roberto A. Ortega ,
Ali Shalash,
Emilia Gatto,
Mehri Salari ,
Maggie Markgraf,
Roy N. Alcalay ,
Deborah Mascalzoni,
Niccolò E. Mencacci ,
Vincenzo Bonifati,
Marcelo Merello ,
Sun Ju Chung ,
Ivana Novakovic,
Soraya Bardien
and 14 other authors
International Genetic Testing and Counseling Practices for Parkinson's Disease
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Clarissa Rocca,
Roberto Simone,
Riccardo Zenezini Chiozzi,
Zane Jaunmuktane,
Niccolò E. Mencacci ,
Michele Tinazzi,
Sandeep Jayawant,
Andrea H. Nemeth,
German Demidov,
Henry Houlden ,
Kailash P. Bhatia
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Niccolò E. Mencacci
Digging into the Unknowns of the Human Genome Sequence: The T2T‐CHM13 Reference Assembly Release
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Niccoló E. Mencacci ,
Kailash P. Bhatia
The Emerging Role of Phosphodiesterases in Movement Disorders
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Dora Steel,
Francesca Magrinelli ,
Jerry Hsu,
Ignacio Juan Keller Sarmiento,
Mónica Troncoso Schifferli,
Daniela Muñoz,
Leonidas Stefanis,
Steven J. Lubbe,
Nicholas W. Wood ,
Manju A. Kurian ,
Maria Stamelou
Childhood‐Onset Chorea Caused by a Recurrent De Novo DRD2 Variant
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Genetic Dystonias: Update on Classification and New Genetic Discoveries
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Nicolas Marotta ,
Niccolò E. Mencacci
Emerging and converging molecular mechanisms in dystonia
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Wim Mandemakers,
Chin‐Song Lu,
Simone Olgiati,
Guido J. Breedveld,
Christina Fevga,
Vera Tadic,
Miryam Carecchio,
Bradley Osterman,
Lena Sagi‐Dain,
Yah‐Huei Wu‐Chou,
Chiung C. Chen,
Hsiu‐Chen Chang,
Shey‐Lin Wu,
Tu‐Hsueh Yeh
and 19 other authors
EIF2AK2 missense variants associated with early‐onset generalized dystonia
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Niccolò Emanuele Mencacci ,
Alan Pittman,
Liis Kadastik‐Eerme ,
Katrin Sikk,
Pille Taba,
John Hardy,
Sulev Kõks
Community‐based genetic study of Parkinson´s disease in Estonia
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Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
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Demis A. Kia,
Alastair J. Noyce,
Angli Xue,
Jose Bras,
Emily Young,
Javier Simón-Sánchez,
Claudia Schulte
and 219 other authors
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