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

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

Autor: Olimpia Musumeci, Edoardo Ferlazzo, Carmelo Rodolico, Antonio Gambardella, Monica Gagliardi, Umberto Aguglia, Antonio Toscano

Publikováno v: Frontiers in Neurology, Vol 11 (2020)

GLUT1 Deficiency Syndrome (GLUT1-DS) is a rare and potentially treatable neurometabolic condition, caused by a reduced glucose transport into the brain and clinically characterized by an epileptic encephalopathy with movement disorders. A wide inter-

Externí odkaz: https://doaj.org/article/787048f533584a0fa2e63de769992b65

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

Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture

Autor: Andreas Schulze-Bonhage, Patrick May, Samuel Berkovic, Lorenzo Ferri, Monica Gagliardi, Adam Strzelczyk, Oluyomi Modupe Adesoji, Vytautas Kasiulevicius, Heidi Kirsch, Algirdas Utkus, Bobby Koeleman, Gianpiero Cavalleri

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here, we report a trans-ethnic GWAS including 29,944 cases, stratified into three broad- and seven sub-t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8987c7a3b8658557c398255d13bf3cd6
https://doi.org/10.1101/2022.06.08.22276120

FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation.

Autor: Maddalena Di Sanzo, Ilenia Aversa, Gianluca Santamaria, Monica Gagliardi, Mariafranca Panebianco, Flavia Biamonte, Fabiana Zolea, Maria Concetta Faniello, Giovanni Cuda, Francesco Costanzo

Publikováno v: PLoS ONE, Vol 11, Iss 3, p e0151359 (2016)

Ferritin, the major iron storage protein, performs its essential functions in the cytoplasm, nucleus and mitochondria. The variable assembly of 24 subunits of the Heavy (H) and Light (L) type composes the cytoplasmic molecule. In humans, two distinct

Externí odkaz: https://doaj.org/article/6ea0451e64f64d11a25e1d001c194825