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Structure: Internal structure identifier : 334822

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

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.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019, 15 (11), pp.1478-1488. ⟨10.1016/j.jalz.2019.06.4951⟩
Journal articles hal-03598023v1

Inflammatory biomarkers in Alzheimer's disease plasma

Angharad Morgan , Samuel Touchard , Claire Leckey , Caroline O'Hagan , Alejo Nevado‐holgado et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019, 15 (6), pp.776-787. ⟨10.1016/j.jalz.2019.03.007⟩
Journal articles hal-03598014v1

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 of Sleep Research, 2022, 31 (4), ⟨10.1111/jsr.13622⟩
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 of Neurology, Neurosurgery and Psychiatry, 2010, 81 (8), pp.922. ⟨10.1136/jnnp.2009.196253⟩
Journal articles hal-00557429v1

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.
Alzheimer's Research and Therapy, 2018, 10 (1), pp.100. ⟨10.1186/s13195-018-0428-1⟩
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 of Neurology, Neurosurgery and Psychiatry, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
Journal articles hal-03353031v1

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.
The Lancet Neurology, 2019, ⟨10.1016/S1474-4422(19)30394-1⟩
Journal articles hal-02409114v1

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.
The Lancet Neurology, 2017, 16 (9), pp.701-711. ⟨10.1016/S1474-4422(17)30161-8⟩
Journal articles hal-04073171v1

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 of Alzheimer's Disease, 2020, 74 (1), pp.213-225. ⟨10.3233/JAD-190434⟩
Journal articles hal-03597998v1

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.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019, 15 (6), pp.817-827. ⟨10.1016/j.jalz.2019.03.004⟩
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.
Cell Reports, 2018, 24 (4), pp.987-1000.e7. ⟨10.1016/j.celrep.2018.06.094⟩
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.
FEBS Letters, 2018, 592 (9), pp.1497-1506. ⟨10.1002/1873-3468.13040⟩
Journal articles hal-01954084v1

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.
The Journal of Physiology, 2022, 600 (9), pp.2049-2075. ⟨10.1113/JP281953⟩
Journal articles hal-04099297v1

Common genetic variants influence human subcortical brain structures.

Derrek P Hibar , Jason L Stein , Miguel E Renteria , Alejandro Arias-Vasquez , Sylvane Desrivières et al.
Nature, 2015, 520 (7546), pp.224-9. ⟨10.1038/nature14101⟩
Journal articles hal-01196805v1

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.
PLoS ONE, 2017, 12 (2), pp.e0172776. ⟨10.1371/journal.pone.0172776⟩
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 of Neurology, Neurosurgery and Psychiatry, 2021, 92 (11), pp.1206-1214. ⟨10.1136/jnnp-2021-326603⟩
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.
Investigative Ophthalmology & Visual Science, 2021, 62 (6), pp.2. ⟨10.1167/iovs.62.6.2⟩
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.
eLife, 2020, 9, pp.e47895. ⟨10.7554/eLife.47895⟩
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.
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Journal articles hal-03840317v1

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.
American Journal of Pathology, 2017, 187 (2), pp.441-456. ⟨10.1016/j.ajpath.2016.10.002⟩
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.
Annals of Neurology, 2021, ⟨10.1002/ana.26256⟩
Journal articles hal-03405171v1

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.
Nature Neuroscience, 2016, 19 (12), pp.1569-1582. ⟨10.1038/nn.4398⟩
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.
Nature Communications, 2017, 8, pp.13624. ⟨10.1038/ncomms13624⟩
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.
Scientific Reports, 2022, 12 (1), pp.18928. ⟨10.1038/s41598-022-18848-8⟩
Journal articles hal-03877293v1

Longterm deep brain stimulation withdrawal: clinical stability despite electrophysiological instability

Diane Ruge , Laura Cif , Patricia Limousin , Victoria Gonzalez , Xavier Vasques et al.
Journal of the Neurological Sciences, 2014, 342 (1-2), pp.197--9. ⟨10.1016/j.jns.2014.05.011⟩
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.
Brain Communications, 2021, 3 (3), pp.fcab141. ⟨10.1093/braincomms/fcab141⟩
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.
American Journal of Human Genetics, 2019, 104 (5), pp.815-834. ⟨10.1016/j.ajhg.2019.03.022⟩
Journal articles pasteur-03325419v1