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SNV-InDel working group: Results and lessons learned from the analysis of 22,035 exomes and genomes from 6 European reference networks
Leslie Matalonga
,
Ida Paramonov
,
Wouter Steyaert
,
Heba Morsy
,
Daniel Danis
et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference papers
hal-04086234v1
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Discovery and validation of plasma proteomic biomarkers relating to brain amyloid burden by SOMAscan assay
Liu Shi
,
Sarah Westwood
,
Alison Baird
,
Laura Winchester
,
Valerija Dobricic
et al.
Journal articles
hal-03598023v1
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Inflammatory biomarkers in Alzheimer's disease plasma
Angharad Morgan
,
Samuel Touchard
,
Claire Leckey
,
Caroline O'Hagan
,
Alejo Nevado‐holgado
et al.
Journal articles
hal-03598014v1
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Sleep and epilepsy: A snapshot of knowledge and future research lines
Lino Nobili
,
Birgit Frauscher
,
Sofia Eriksson
,
Steve Alex Gibbs
,
Peter Halasz
et al.
Journal articles
hal-04100927v1
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EEG-correlated fMRI and Post-Operative Outcome in Focal Epilepsy
Rachel Thornton
,
Helmut Laufs
,
Serge Vulliemoz
,
David W Carmichael
,
Sajitha Cannadathu
et al.
Journal articles
hal-00557429v1
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MRI predictors of amyloid pathology: results from the EMIF-AD Multimodal Biomarker Discovery study
Mara ten Kate
,
Alberto Redolfi
,
Enrico Peira
,
Isabelle Bos
,
Stephanie Vos
et al.
Journal articles
hal-03598100v1
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Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
Menelaos Pipis
,
Andrea Cortese
,
James M Polke
,
Roy Poh
,
Jana Vandrovcova
et al.
Journal articles
hal-03353031v1
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Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study
Katrina Moore
,
Jennifer M Nicholas
,
Murray Grossman
,
Corey Mcmillan
,
David Irwin
et al.
Journal articles
hal-02409114v1
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Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
Davina Moss
,
Antonio Pardiñas
,
Douglas Langbehn
,
Kitty Lo
,
Blair Leavitt
et al.
Journal articles
hal-04073171v1
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Validation of Plasma Proteomic Biomarkers Relating to Brain Amyloid Burden in the EMIF-Alzheimer’s Disease Multimodal Biomarker Discovery Cohort
Sarah Westwood
,
Alison Baird
,
Sneha Anand
,
Alejo Nevado-Holgado
,
Andrey Kormilitzin
et al.
Journal articles
hal-03597998v1
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Primary fatty amides in plasma associated with brain amyloid burden, hippocampal volume, and memory in the European Medical Information Framework for Alzheimer's Disease biomarker discovery cohort
Min Kim
,
Stuart Snowden
,
Tommi Suvitaival
,
Ashfaq Ali
,
David Merkler
et al.
Journal articles
hal-03598009v1
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Hypertonic Stress Causes Cytoplasmic Translocation of Neuronal, but Not Astrocytic, FUS due to Impaired Transportin Function
Eva-Maria Hock
,
Zuzanna Maniecka
,
Marian Hruska-Plochan
,
Stefan Reber
,
Florent Laferrière
et al.
Journal articles
inserm-03376140v1
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Rearrangements under confinement lead to increased binding energy of Synaptotagmin-1 with anionic membranes in Mg 2+ and Ca 2+
Clémence Gruget
,
Jeff Coleman
,
Oscar D Bello
,
Shyam S Krishnakumar
,
Eric Perez
et al.
Journal articles
hal-01954084v1
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Advancing respiratory–cardiovascular physiology with the working heart–brainstem preparation over 25 years
Julian Paton
,
Benedito Machado
,
Davi Moraes
,
Daniel Zoccal
,
Ana Abdala
et al.
Journal articles
hal-04099297v1
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Common genetic variants influence human subcortical brain structures.
Derrek P Hibar
,
Jason L Stein
,
Miguel E Renteria
,
Alejandro Arias-Vasquez
,
Sylvane Desrivières
et al.
Journal articles
hal-01196805v1
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Repeated dexamphetamine treatment alters the dopaminergic system and increases the phMRI response to methylphenidate
Anouk Schrantee
,
Jordi Tremoleda
,
Marzena Wylezinska-Arridge
,
Valentine Bouet
,
Peter Hesseling
et al.
Journal articles
hal-02135218v1
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Use of plasma biomarkers for AT(N) classification of neurodegenerative dementias
Daniel Alcolea
,
Constance Delaby
,
Laia Muñoz
,
Soraya Torres
,
Teresa Estellés
et al.
Journal articles
hal-03653194v1
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The effects of Cstb duplication on APP/amyloid-β pathology and cathepsin B activity in a mouse model
Yixing Wu
,
Heather T Whittaker
,
Suzanna Noy
,
Karen Cleverley
,
Veronique Brault
et al.
Journal articles
hal-03373441v1
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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Neringa Jurkute
,
Priya D Shanmugarajah
,
Marios Hadjivassiliou
,
Jenny Higgs
,
Miodrag Vojcic
et al.
Journal articles
hal-03217351v1
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Damage to the right insula disrupts the perception of affective touch
Louise P Kirsch
,
Sahba Besharati
,
Christina Papadaki
,
Laura Crucianelli
,
Sara Bertagnoli
et al.
Journal articles
hal-02550814v1
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Prediction of biomarkers' trajectory in Huntington's disease: application to precise clinical trial design
Igor Koval
,
Thomas Dighiero
,
Rachael I Scahill
,
Alexandra Durr
,
Stanley Durrleman
et al.
CompAge 2020 - Computational approaches for ageing and age-related diseases, Sep 2020, Paris, France
Conference papers
hal-03137994v1
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Heba Morsy
,
Mehdi Benkirane
,
Elisa Cali
,
Clarissa Rocca
,
Kristina Zhelcheska
et al.
Journal articles
hal-03840317v1
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Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems
Gemma Walmsley
,
Stéphane Blot
,
Kerrie Venner
,
Caroline Sewry
,
Jocelyn Laporte
et al.
Journal articles
hal-03679180v1
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Cardiac investigations in sudden unexpected death in DEPDC5 ‐related epilepsy
Alexandre Bacq
,
Delphine Roussel
,
Thomas Bonduelle
,
Sara Zagaglia
,
Marina Maletic
et al.
Journal articles
hal-03405171v1
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Novel genetic loci underlying human intracranial volume identified through genome-wide association
Hieab H H Adams
,
Derrek P Hibar
,
Vincent Chouraki
,
Jason L Stein
,
Paul A Nyquist
et al.
Journal articles
hal-01382716v1
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Novel genetic loci associated with hippocampal volume
Derrek P. Hibar
,
Hieab H. H. Adams
,
Neda Jahanshad
,
Ganesh Chauhan
,
Jason L. Stein
et al.
Journal articles
hal-01488337v1
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Forecasting individual progression trajectories in Huntington disease enables more powered clinical trials
Igor Koval
,
Thomas Dighiero-Brecht
,
Allan J Tobin
,
Sarah J Tabrizi
,
Rachael I Scahill
et al.
Journal articles
hal-03877293v1
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Longterm deep brain stimulation withdrawal: clinical stability despite electrophysiological instability
Diane Ruge
,
Laura Cif
,
Patricia Limousin
,
Victoria Gonzalez
,
Xavier Vasques
et al.
Journal articles
hal-01943328v1
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Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2
Ilaria Giovannelli
,
Nadhim Bayatti
,
Abigail Brown
,
Dennis Wang
,
Marius Mickunas
et al.
Journal articles
hal-03346504v1
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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Scott Bell
,
Justine Rousseau
,
Huashan Peng
,
Zahia Aouabed
,
Pierre Priam
et al.
Journal articles
pasteur-03325419v1
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