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GC-MS-based urine metabolic profiling of autism spectrum disorders.
Patrick Emond
,
Sylvie Mavel
,
Nacima Aïdoud
,
Lydie Nadal-Desbarats
,
Frédéric Montigny
,
et al.
Article dans une revue
inserm-00908948v1
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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
Judith Halewa
,
Sylviane Marouillat
,
Manon Dixneuf
,
Rose‐anne Thépault
,
Dévina C Ung
,
et al.
Article dans une revue
inserm-03273379v1
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Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation
Frédéric Laumonnier
,
Sébastien Roger
,
Pascaline Guerin
,
Florence Molinari
,
Ridha M'Rad
,
et al.
Article dans une revue
hal-02658023v1
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Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
Cecile Pagan
,
Hany Goubran Botros
,
Karine Poirier
,
Anne Dumaine
,
Stéphane Jamain
,
et al.
Article dans une revue
inserm-00610655v1
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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
Médéric Jeanne
,
Marie-Laure Vuillaume
,
Dévina Ung
,
Valerie Vancollie
,
Christel Wagner
,
et al.
Article dans une revue
inserm-04094651v1
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Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.
Betty Hébert
,
Susanna Pietropaolo
,
Sandra Même
,
Béatrice Laudier
,
Anthony Laugeray
,
et al.
Article dans une revue
inserm-01089760v1
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
Lisa Lenaerts
,
Sara Reynhout
,
Iris Verbinnen
,
Frederic Laumonnier
,
Annick Toutain
,
et al.
Article dans une revue
inserm-03273405v1
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LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability
Julie Tastet
,
Hélène Cuberos
,
Béatrice Vallée
,
Annick Toutain
,
Martine Raynaud
,
et al.
Article dans une revue
hal-02067472v1
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance
Amélie Cordovado
,
Martina Schaettin
,
Mederic Jeanne
,
Veranika Panasenkava
,
Anne‐sophie Denommé‐pichon
,
et al.
Article dans une revue
hal-03719616v1
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Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism
Julie Tastet
,
Loïc Decalonne
,
Sylviane Marouillat
,
Joëlle Malvy
,
Rose-Anne Thépault
,
et al.
Article dans une revue
hal-02072312v1
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Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Audrey Guilmatre
,
Christèle Dubourg
,
Anne-Laure Mosca
,
Solenn Legallic
,
Alice Goldenberg
,
et al.
Article dans une revue
inserm-00417413v1
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Glutamatergic synapse in autism: a complex story for a complex disorder
Laurent Galineau
,
Nicolas Arlicot
,
Anne-Claire Dupont
,
Frédéric Briend
,
Emmanuelle Houy-Durand
,
et al.
Article dans une revue
hal-04424686v1
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FG syndrome: The FGS2 locus revisited.
Olivier Perche
,
Béatrice Laudier
,
Arnaud Menuet
,
Sylvie Odent
,
Frederic Laumonnier
,
et al.
Article dans une revue
istex
inserm-00693995v1
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GRID1/ GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
Dévina Ung
,
Ludovic Tricoire
,
Nicolas Pietrancosta
,
Andjela Zlatanovic
,
Ben Pode-Shakked
,
et al.
Article dans une revue
hal-03871407v2
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1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.
Sylvie Mavel
,
Lydie Nadal-Desbarats
,
Hélène Blasco
,
Frédérique Bonnet-Brilhault
,
Catherine Barthélémy
,
et al.
Article dans une revue
inserm-00908930v1
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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse
D. Ung
,
G Iacono
,
H Méziane
,
E. Blanchard
,
M-A Papon
,
et al.
Article dans une revue
inserm-02443532v1
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi
,
Jennifer Kerkhof
,
Victor Pedro
,
Mouna Barat-Houari
,
Nathalie Ruiz-Pallares
,
et al.
Article dans une revue
hal-02538107v1
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LIMK2d, a truncated isoform of Lim kinase 2 regulates neurite growth in absence of the LIM kinase domain
Julie Tastet
,
Patrick Vourc'H
,
Frédéric Laumonnier
,
Béatrice Vallée
,
Carole Michelle
,
et al.
Article dans une revue
istex
hal-01136281v1
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1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.
Sylvie Mavel
,
Lydie Nadal-Desbarats
,
Hélène Blasco
,
Frédérique Bonnet-Brilhault
,
Catherine Barthélémy
,
et al.
Article dans une revue
inserm-00908985v1
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