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The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Leila Qebibo
,
Amaël Davakan
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Mathilde Nesson-Dauphin
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Najlae Boulali
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Karine Siquier-Pernet
et al.
Article dans une revue
hal-04846047
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Conference Report: Cerebellar Development and Disease at Single-Cell Resolution
Lena Kutscher
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Davide Aprile
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N Sumru Bayin
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Esther Becker
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Valentina Cerrato
et al.
Article dans une revue
hal-05137479
v1
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LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy
Matis Crespin
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Karine Siquier-Pernet
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Pauline Marzin
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Christine Bole-Feysot
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Valérie Malan
et al.
Article dans une revue
hal-04974071
v1
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Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech
Clothilde Ormieres
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Marion Lesieur-Sebellin
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Karine Siquier-Pernet
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Geoffroy Delplancq
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Marlene Rio
et al.
Article dans une revue
hal-04973862
v1
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Human plasma inositol hexakisphosphate (InsP6) phosphatase identified as the Multiple Inositol Polyphosphate Phosphatase 1 (MINPP1)
Valeria Fedeli
,
Jingyi Wang
,
Vincent Cantagrel
,
Adolfo Saiardi
Article dans une revue
hal-05137484
v1
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A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
Romain Nicolle
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Nami Altin
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Karine Siquier-Pernet
,
Sherlina Salignac
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Pierre Blanc
et al.
Article dans une revue
hal-04974089
v1
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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency
Korbinian M Riedhammer
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Anna L Burgemeister
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Jeanne Amiel
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Vincent Cantagrel
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Karine Siquier-Pernet
et al.
Article dans une revue
hal-03853581
v1
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Biallelic loss of EMC10 leads to mild to severe intellectual disability
Rauan Kaiyrzhanov
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Clarissa Rocca
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Mohnish Suri
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Sughra Gulieva
,
Maha S Zaki
et al.
Article dans une revue
hal-04972115
v1
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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency
Korbinian Riedhammer
,
Anna Burgemeister
,
Vincent Cantagrel
,
Jeanne Amiel
,
Karine Siquier-Pernet
et al.
Article dans une revue
hal-03852536
v1
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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series
Marion Lesieur-Sebellin
,
Marianne Till
,
Philippe Khau van Kien
,
Bérénice Herve
,
Nicolas Bourgon
et al.
Article dans une revue
hal-03481652
v1
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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation
Marion Coolen
,
Nami Altin
,
Karthyayani Rajamani
,
Eva Pereira
,
Karine Siquier-Pernet
et al.
Article dans une revue
hal-03654319
v1
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16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing
Romain Nicolle
,
Karine Siquier-Pernet
,
Marlène Rio
,
Anne Guimier
,
Emmanuelle Ollivier
et al.
Article dans une revue
hal-04982469
v1
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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Sukhleen Kour
,
Deepa S Rajan
,
Tyler R Fortuna
,
Eric N Anderson
,
Caroline Ward
et al.
Article dans une revue
hal-04972113
v1
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Une hypoplasie ponto-cérébelleuse causée par l’accumulation d’un inositol phosphate
Ekin Ucuncu
,
Karthyayani Rajamani
,
Lydie Burglen
,
Nathalie Boddaert
,
Adolfo Saiardi
et al.
Article dans une revue
hal-03273128
v1
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MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
Ekin Ucuncu
,
Karthyayani Rajamani
,
Miranda Wilson
,
Daniel Medina-Cano
,
Nami Altin
et al.
Article dans une revue
hal-03151207
v1
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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
Sónia Barbosa
,
Stephanie Greville-Heygate
,
Maxime Bonnet
,
Annie Godwin
,
Christine Fagotto-Kaufmann
et al.
Article dans une revue
hal-02997930
v1
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
Stephanie Efthymiou
,
Vincenzo Salpietro
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Nancy Malintan
,
Mallory Poncelet
,
Yamna Kriouile
et al.
Article dans une revue
hal-02999849
v1
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High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect
Daniel Medina-Cano
,
Ekin Ucuncu
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Lam Nguyen
,
Michael Nicouleau
,
Joanna Lipecka
et al.
Article dans une revue
hal-02347168
v1
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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
Jean Chemin
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Karine Siquier-Pernet
,
Michael Nicouleau
,
Giulia Barcia
,
Ali Ahmad
et al.
Article dans une revue
hal-02017665
v1
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Genotype-phenotype correlations in individuals with pathogenic RERE variants
Valerie K Jordan
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Brieana Fregeau
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Xiaoyan Ge
,
Jessica Giordano
,
Ronald J Wapner
et al.
Article dans une revue
hal-04972116
v1
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High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect
Daniel Medina-Cano
,
Ekin Ucuncu
,
Lam Son Nguyen
,
Michael Nicouleau
,
Joanna Lipecka
et al.
Article dans une revue
hal-04974126
v1
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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Mara Cavallin
,
Maria A Rujano
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Nathalie Bednarek
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Daniel Medina-Cano
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Antoinette Bernabe Gelot
et al.
Article dans une revue
hal-02620552
v1
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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Hisham Megahed
,
Michaël Nicouleau
,
Giulia Barcia
,
Daniel Medina-Cano
,
Karine Siquier-Pernet
et al.
Article dans une revue
hal-04974139
v1
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Holly a.F. Stessman
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Marjolein h. Willemsen
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Michael Fenckova
,
Osnat Penn
,
Alexander Hoischen
et al.
Article dans une revue
hal-01405534
v1
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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Hisham Megahed
,
Michaël Nicouleau
,
Giulia Barcia
,
Daniel Medina-Cano
,
Karine Siquier-Pernet
et al.
Article dans une revue
inserm-01322562
v1
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CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
Ashleigh E Schaffer
,
Veerle R C Eggens
,
Ahmet Okay Caglayan
,
Miriam S Reuter
,
Eric Scott
et al.
Article dans une revue
hal-04972118
v1
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Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
Sophie Thomas
,
Vincent Cantagrel
,
Laura Mariani
,
Valérie Serre
,
Ji-Eun Lee
et al.
Article dans une revue
hal-01060629
v1
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