Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Laura, Cif"'
Autor:
Jana Domínguez Carral, Carola Reinhard, Darius Ebrahimi-Fakhari, Nathalie Dorison, Serena Galosi, Giacomo Garone, Masa Malenica, Claudia Ravelli, Esra Serdaroglu, Laura A. van de Pol, Anne Koy, Vincenzo Leuzzi, Agathe Roubertie, Jean-Pierre Lin, Diane Doummar, Laura Cif, Juan Darío Ortigoza-Escobar
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundGNAO1-related disorders (GNAO1-RD) encompass a diverse spectrum of neurodevelopmental and movement disorders arising from variants in the GNAO1 gene. Dyskinetic crises, marked by sudden and intense exacerbations of abnormal involuntary move
Externí odkaz:
https://doaj.org/article/b868ccdbbf144a0ebf6daa05480378e6
Publikováno v:
Brain Stimulation, Vol 17, Iss 2, Pp 491-492 (2024)
Externí odkaz:
https://doaj.org/article/9aac55e5668648418c9eb3599cdf760b
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract The functional characterization of different neuronal types has been a longstanding and crucial challenge. With the advent of physical quantum computers, it has become possible to apply quantum machine learning algorithms to translate theore
Externí odkaz:
https://doaj.org/article/b5855649cb5847a5aec812511024840d
Autor:
Matthieu Villessot, Diane Demailly, Emilie Chan-Seng, Gaëtan Poulen, Sophie Huby, Thomas Roujeau, Morgan Dornadic, Marc Vérin, Audrey Riou, Philippe Coubes, Laura Cif
Publikováno v:
Brain Stimulation, Vol 15, Iss 4, Pp 921-923 (2022)
Externí odkaz:
https://doaj.org/article/b204fb9c165740308b367ee7c2a66ac7
Autor:
Diane Doummar, Marco Treven, Leila Qebibo, David Devos, Jamal Ghoumid, Claudia Ravelli, Gottfried Kranz, Martin Krenn, Diane Demailly, Laura Cif, Jean‐Baptiste Davion, Fritz Zimprich, Lydie Burglen, Michael Zech
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 1986-1990 (2021)
Abstract Originally described as a risk factor for autism, CHD8 loss‐of‐function variants have recently been associated with a wider spectrum of neurodevelopmental abnormalities. We further expand the CHD8‐related phenotype with the description
Externí odkaz:
https://doaj.org/article/59146fc3d4af4c50ad51f914bcdf23f8
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Deep brain stimulation (DBS) serves as a treatment for neurological and psychiatric disorders, such as Parkinson's disease (PD), essential tremor, dystonia, Tourette Syndrome (GTS), Huntington's disease, and obsessive-compulsive disorder (OCD). There
Externí odkaz:
https://doaj.org/article/e31b8739233a4f92ab9786f4332ab510
Autor:
Takashi Tsuboi, Laura Cif, Philippe Coubes, Jill L. Ostrem, Danilo A. Romero, Yasushi Miyagi, Andres M. Lozano, Philippe De Vloo, Ihtsham Haq, Fangang Meng, Nutan Sharma, Laurie J. Ozelius, Aparna Wagle Shukla, James H. Cauraugh, Kelly D. Foote, Michael S. Okun
Publikováno v:
Frontiers in Human Neuroscience, Vol 14 (2020)
Objective: To reveal clinical characteristics of suboptimal responses to deep brain stimulation (DBS) in a multi-country DYT1 dystonia cohort.Methods: In this multi-country multi-center retrospective study, we analyzed the clinical data of DYT1 patie
Externí odkaz:
https://doaj.org/article/76cdff5ddd824c8198f19f2cd04eb4b9
Autor:
Laura Cif, Diane Demailly, Xavier Vasques, Delphine de Verbizier, Philippe Coubes, Kathleen Gorman, Manju A. Kurian
Publikováno v:
Movement Disorders Clinical Practice. 9:992-996
Autor:
Sunwoo Lee, Eguzkine Ochoa, Katy Barwick, Laura Cif, Fay Rodger, France Docquier, Belén Pérez-Dueñas, Graeme Clark, Ezequiel Martin, Siddharth Banka, Manju A Kurian, Eamonn R Maher
Publikováno v:
Lee, S, Ochoa, E, Barwick, K, Cif, L, Rodger, F, Docquier, F, Pérez-Dueñas, B, Clark, G, Martin, E, Banka, S, Kurian, M A & Maher, E R 2022, ' Comparison of methylation episignatures in KMT2B-and KMT2D-related human disorders ', Epigenomics, vol. 14, no. 9, pp. 537-547 . https://doi.org/10.2217/epi-2021-0521
Funder: Rosetrees Trust
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-bas
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-bas
Autor:
Aurélie Méneret, Shekeeb S. Mohammad, Laura Cif, Diane Doummar, Claudio DeGusmao, Mathieu Anheim, Magalie Barth, Philippe Damier, Nathalie Demonceau, Jennifer Friedman, Cécile Gallea, Domitille Gras, Juliana Gurgel‐Giannetti, Emily A. Innes, Ján Necpál, Florence Riant, Sandrine Sagnes, Catherine Sarret, Yury Seliverstov, Vijayashankar Paramanandam, Kuldeep Shetty, Christine Tranchant, Mohamed Doulazmi, Marie Vidailhet, Tamara Pringsheim, Emmanuel Roze
Publikováno v:
Movement Disorders
Movement Disorders, 2022, 37 (6), pp.1294-1298. ⟨10.1002/mds.29006⟩
Movement Disorders, 2022, 37 (6), pp.1294-1298. ⟨10.1002/mds.29006⟩
ADCY5-related dyskinesia is characterized by early-onset movement disorders. There is currently no validated treatment, but anecdotal clinical reports and biological hypotheses suggest efficacy of caffeine.The aim is to obtain further insight into th