Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia

Autor: Radha Procopio, Francesco Fortunato, Monica Gagliardi, Mariagrazia Talarico, Ilaria Sammarra, Maria Chiara Sarubbi, Donatella Malanga, Grazia Annesi, Antonio Gambardella

Publikováno v: International Journal of Molecular Sciences, Vol 25, Iss 10, p 5505 (2024)

Doublecortin, encoded by the DCX gene, plays a crucial role in the neuronal migration process during brain development. Pathogenic variants of the DCX gene are the major causes of the “lissencephaly (LIS) spectrum”, which comprehends a milder phe

Externí odkaz: https://doaj.org/article/a05f87d22374420f81c6c90275eabc3a

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.

Autor: Eva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad-Annuar, Bashayer Al-Mubarak, Roy N Alcalay, Victoria Alvarez, Ignacio Amorin, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A Barker, Melinda Barkhuizen, A Nazli Basak, Vincenzo Bonifati, Agnita Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimon, Mario Cornejo-Olivas, Leonor Correia Guedes, Jean-Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patricia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez-Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycal Hentati, Dorota Hoffman-Zacharska, Sergey N Illarioshkin, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke Kievit, Peter Klivenyi, Vladimir Kostic, Dariusz Koziorowski, Andrea A Kühn, Anthony E Lang, Shen-Yang Lim, Chin-Hsien Lin, Katja Lohmann, Vladana Markovic, Mika Henrik Martikainen, George Mellick, Marcelo Merello, Lukasz Milanowski, Pablo Mir, Özgür Öztop-Çakmak, Márcia Mattos Gonçalves Pimentel, Teeratorn Pulkes, Andreas Puschmann, Ekaterina Rogaeva, Esther M Sammler, Maria Skaalum Petersen, Matej Skorvanek, Mariana Spitz, Oksana Suchowersky, Ai Huey Tan, Pichet Termsarasab, Avner Thaler, Vitor Tumas, Enza Maria Valente, Bart van de Warrenburg, Caroline H Williams-Gray, Ruey-Mei Wu, Baorong Zhang, Alexander Zimprich, Justin Solle, Shalini Padmanabhan, Christine Klein

Publikováno v: PLoS ONE, Vol 18, Iss 10, p e0292180 (2023)

Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genet

Externí odkaz: https://doaj.org/article/58585cdc8b73494895f8856cace8556b

A familial t(4;8) translocation segregates with epilepsy and migraine with aura

Autor: Milena Crippa, Paola Malatesta, Maria Teresa Bonati, Francesco Trapasso, Francesco Fortunato, Grazia Annesi, Lidia Larizza, Angelo Labate, Palma Finelli, Nicola Perrotti, Antonio Gambardella

Publikováno v: Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 855-859 (2020)

Abstract Three relatives carrying a t(4;8)(p15.2;p23.2) translocation had juvenile myoclonic epilepsy, self‐limited photosensitive occipital epilepsy and migraine with aura. The t(4;8) translocation interrupted the coding sequence of CSMD1 gene and

Externí odkaz: https://doaj.org/article/d6e5e20d676c49ef88a6eacec7429917

Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson’s Disease

Autor: Athina Simitsi, Grazia Annesi, Hirotaka Matsuo, Leonor Correia Guedes, Mario Ezquerra, Kenya Nishioka, Ashwin Ashok Kumar Sreelatha, Simona Petrucci, Dimitri Krainc, Angela Deutschländer, Ekaterina Rogaeva, Lasse Pihlstrøm, Manu Sharma, Thomas Gasser, Mathias Toft, Jan O. Aasly, Cloé Domenighetti, Monica Diez-Fairen, Milena Radivojkov-Blagojevic, Sandeep Grover, Andrew B. Singleton, Bart P.C. van de Warrenburg, Yun Joong Kim, Andrea Quattrone, Sun Ju Chung, Gianni Pezzoli, Pierre-Emmanuel Sugier, Sulev Kõks, Lena F. Burbulla, Jonathan Carr, Walter Pirker, Efthimos Dardiotis, Karin Wirdefeldt, George D. Mellick, Jean-Christophe Corvol, Dheeraj Reddy Bobbili, Anthony E. Lang, Eugénie Mutez, Georges M. Hadjigeorgiou, Anna Zecchinelli, Laura Brighina, Connor Edsall, Océane Mohamed, Berta Portugal, Andreas Puschmann, Nancy L. Pedersen, Alexander Zimprich, Patrick May, Matthew J. Farrer, Leonidas Stefanis, Yusuke Kawamura, Eduardo Tolosa, Claudia Schulte, Alexis Brice, Caroline Ran, Manuela Tan, Pille Taba, Peter Lichtner, Alexis Elbaz, Dena G. Hernandez, Monica Gagliardi, Andrea Carmine Belin, Joaquim J. Ferreira, Suzanne Lesage, Pierre Kolber, Kathrin Brockmann, Marie-Christine Chartier-Harlin, Carl E Clarke, Karen E. Morrison, Nobutaka Hattori, Stefano Duga, Letizia Straniero, Rejko Krüger, Carlo Ferrarese, Pau Pastor, Soraya Bardien, Clara Hellberg, Bastiaan R. Bloem, Enza Maria Valente

Publikováno v: J Parkinsons Dis
Journal of Parkinson's Disease, 12, 267-282
Journal of Parkinson's Disease, 12, 1, pp. 267-282
Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (COURAGE-PD) consortium 2021, ' Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease ', Journal of Parkinson's disease . https://doi.org/10.3233/JPD-212851
Journal of Parkinson's Disease 12(1), 267-282 (2022). doi:10.3233/JPD-212851
Journal of Parkinson's disease
12 (2022): 267–282. doi:10.3233/JPD-212851
info:cnr-pdr/source/autori:Cloé Domenighetti; Pierre-Emmanuel Sugier; Ashwin Ashok Kumar Sreelatha; Claudia Schulte; Sandeep Grover; Océane Mohamed; Berta Portugal; Patrick May; Dheeraj R Bobbili; Milena Radivojkov-Blagojevic; Peter Lichtner; Andrew B Singleto; Dena G Hernandez; Connor Edsall; George D Mellick; Alexander Zimprich; Walter Pirker; Ekaterina Rogaeva; Anthony E Lang; Sulev Koks; Pille Taba; Suzanne Lesage; Alexis Brice; Jean-Christophe Corvol; Marie-Christine Chartier-Harlin; Eugénie Mutez; Kathrin Brockmann; Angela B Deutschländer; Georges M Hadjigeorgiou; Efthimos Dardiotis; Leonidas Stefanis; Athina Maria Simitsi; Enza Maria Valente; Simona Petrucci; Stefano Duga; Letizia Straniero; Anna Zecchinelli; Gianni Pezzoli; Laura Brighina; Carlo Ferrarese; Grazia Annesi; Andrea Quattrone; Monica Gagliardi; Hirotaka Matsuo; Yusuke Kawamura; Nobutaka Hattori; Kenya Nishioka; Sun Ju Chung; Yun Joong Kim; Pierre Kolber; Bart Pc van de Warrenburg; Bastiaan R Bloem; Jan Aasly; Mathias Toft; Lasse Pihlstrøm; Leonor Correia Guedes; Joaquim J Ferreira; Soraya Bardien; Jonathan Carr: Eduardo Tolosa; Mario Ezquerra; Pau Pastor; Monica Diez-Fairen; Karin Wirdefeldt; Nancy L Pedersen; Caroline Ran; Andrea C Belin; Andreas Puschmann; Clara Hellberg; Carl E Clarke; Karen E Morrison; Manuela Tan; Dimitri Krainc; Lena F Burbulla; Matt J Farrer; Rejko Krüger; Thomas Gasser; Manu Sharma; Alexis Elbaz; Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (Courage-PD) consortium./titolo:Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease/doi:10.3233%2FJPD-212851/rivista:Journal of Parkinson's disease (Print)/anno:2022/pagina_da:267/pagina_a:282/intervallo_pagine:267–282/volume:12

Contains fulltext : 248871.pdf (Publisher’s version ) (Open Access) BACKGROUND: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce453c7d2a0c16d43984faab2107ce9
https://doi.org/10.3233/jpd-212851

Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease

Autor: Irene Pichler, Francisco S. Domingues, Nicola Modugno, Alessandra Nicoletti, Alessandro Gialluisi, Mario Zappia, Grazia Annesi, Andrew A. Hicks, Peter P. Pramstaller, Teresa Esposito, Cristian Pattaro, Roberto Melotti, Christine Schwienbacher, Marina Ciullo, Hagen Blankenburg, Eva König, Anne Picard

Publikováno v: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Scientific reports (Nature Publishing Group) 11 (2021). doi:10.1038/s41598-021-99393-8
info:cnr-pdr/source/autori:Konig E.; Nicoletti A.; Pattaro C.; Annesi G.; Melotti R.; Gialluisi A.; Schwienbacher C.; Picard A.; Blankenburg H.; Pichler I.; Modugno N.; Ciullo M.; Esposito T.; Domingues F.S.; Hicks A.A.; Zappia M.; Pramstaller P.P./titolo:Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease/doi:10.1038%2Fs41598-021-99393-8/rivista:Scientific reports (Nature Publishing Group)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:11

Levodopa is the standard long-term dopamine replacement therapy to treat Parkinson’s disease (PD) symptoms. With time, levodopa may induce debilitating dyskinesias (LID), the treatment of which represents a large clinically unmet need. However, tim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84bfd8365b9330701dacfd093a333fc
https://pubmed.ncbi.nlm.nih.gov/34599261