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Showing 1–13 of 13 results

Advanced filters: Author: Thomas Courtin Clear advanced filters

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

This study reports that de novo germline missense variants in SF3B1, distinct from the somatic variants frequently observed in cancer, cause a neurodevelopmental disorder and disrupt global RNA splicing.

Kevin Uguen
Tiffany Bergot
Delphine G. Bernard
ResearchOpen Access23 Jan 2026
Nature Communications

P: 1-17
Rising together: exploring sourdough fermentation diversity through co-design in the HealthFerm citizen science initiative

Annina R. Meyer
Thomas Gettemans
Nicholas A. Bokulich
ResearchOpen Access27 Jan 2026
npj Science of Food

P: 1-14
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

Caroline Nava
Benjamin Cogne
Christel Depienne
ResearchOpen Access16 May 2025
Nature Genetics

Volume: 57, P: 1374-1388
Memories of Opiate Withdrawal Emotional States Correlate with Specific Gamma Oscillations in the Nucleus Accumbens

Cyril Dejean
Mathieu Sitko
Catherine Le Moine
ResearchOpen Access06 Dec 2016
Neuropsychopharmacology

Volume: 42, P: 1157-1168
Author Correction: Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Aymeric Lanore
Christelle Tesson
Eva Camgrand
Amendments and CorrectionsOpen Access21 Nov 2025
npj Parkinson's Disease

Volume: 11, P: 1
Personalized bacteriophage therapy outcomes for 100 consecutive cases: a multicentre, multinational, retrospective observational study

Analysis of 100 consecutive personalized bacteriophage therapy cases supports the use of personalized and sometimes pre-adapted, bacteriophage preparations, often in combination with antibiotics.

Jean-Paul Pirnay
Sarah Djebara
Maya Merabishvili
ResearchOpen Access04 Jun 2024
Nature Microbiology

Volume: 9, P: 1434-1453
Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Aymeric Lanore
Christelle Tesson
Eva Camgrand
ResearchOpen Access02 Aug 2025
npj Parkinson's Disease

Volume: 11, P: 1-14
Prefrontal neuronal assemblies temporally control fear behaviour

In the dorsal medial prefrontal cortex, expression of conditioned fear is causally related to the organization of neurons into functional assemblies, defining tight temporal control of this behaviour.

Cyril Dejean
Julien Courtin
Cyril Herry
Research13 Jul 2016
Nature

Volume: 535, P: 420-424
Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

Poornima Jayadev Menon
Sara Sambin
Jean Christophe Corvol
ResearchOpen Access29 Mar 2024
npj Parkinson's Disease

Volume: 10, P: 1-12
Prefrontal parvalbumin interneurons shape neuronal activity to drive fear expression

Single-unit recordings and optogenetic manipulations in mice undergoing auditory fear conditioning show that fear expression is related to the phasic inhibition of prefrontal cortex (PFC) parvalbumin interneurons; inhibition disinhibits PFC projection neurons and synchronizes their firing, leading to fear expression.

Julien Courtin
Fabrice Chaudun
Cyril Herry
Research20 Nov 2013
Nature

Volume: 505, P: 92-96
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Mio Aerden
Anne-Sophie Denommé-Pichon
Hilde Van Esch
Research07 Feb 2023
European Journal of Human Genetics

Volume: 31, P: 461-468
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris
Tojo Nakayama
Timothy W. Yu
Research03 Mar 2021
Genetics in Medicine

Volume: 23, P: 1028-1040
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Erin Torti
Boris Keren
Jane Juusola
Research11 Feb 2019
Genetics in Medicine

Volume: 21, P: 2036-2042

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De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

Rising together: exploring sourdough fermentation diversity through co-design in the HealthFerm citizen science initiative

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Memories of Opiate Withdrawal Emotional States Correlate with Specific Gamma Oscillations in the Nucleus Accumbens

Author Correction: Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Personalized bacteriophage therapy outcomes for 100 consecutive cases: a multicentre, multinational, retrospective observational study

Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Prefrontal neuronal assemblies temporally control fear behaviour

Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

Prefrontal parvalbumin interneurons shape neuronal activity to drive fear expression

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

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