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1 . Academic Journal
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
저자
by
Ekin Ucuncu
;
Karthyayani Rajamani
;
Miranda S. C. Wilson
;
Daniel Medina-Cano
;
Nami Altin
, et al.
소스
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
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7 . Academic Journal
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect
저자
by
Daniel Medina-Cano
;
Ekin Ucuncu
;
Lam Son Nguyen
;
Michael Nicouleau
;
Joanna Lipecka
, et al.
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eLife, Vol 7 (2018)
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7 .
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
저자
by
Nathalie Rabasse
;
Catherine Fossoud
;
Nadia Bahi-Buisson
;
Miranda S. C. Wilson
;
Elsa Lorino
, et al.
소스
Nature Communications
Nature Communications, Nature Publishing Group, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩
Nature Communications, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
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7 .
MINPP1prevents intracellular accumulation of the cation chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
저자
by
Arnold Munnich
;
Catherine Fossoud
;
Nathalie Lefort
;
Meral Topçu
;
Patrick Nitschke
, et al.
소스
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7 .
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
저자
by
Giulia Barcia
;
Laurence Hubert
;
Emily Fassi
;
Julien Thevenon
;
Laurence Faivre
, et al.
소스
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
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7 .
Author response: High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect
저자
by
Laurence Colleaux
;
Ida Chiara Guerrera
;
Catherine Faivre-Sarrailh
;
Jean-Charles Bizot
;
Michael Nicouleau
, et al.
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7 .
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells
저자
by
Laurent Bidat
;
Alice Kuster
;
Patrick Nitschké
;
Jamel Chelly
;
Stanislas Lyonnet
, et al.
소스
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2017, 140 (10), pp.2597-2609. ⟨10.1093/brain/awx218⟩
Brain-A Journal of Neurology, 2017, 140 (10), pp.2597-2609. ⟨10.1093/brain/awx218⟩
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7 .
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
저자
by
Michael Nicouleau
;
Giulia Barcia
;
Mélanie Parisot
;
Arnold Munnich
;
Laurence Colleaux
, et al.
소스
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2015, 11 (1), pp.57. ⟨10.1186/s13023-016-0436-9⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2016, 11 (1), ⟨10.1186/s13023-016-0436-9⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2015, 11 (1), pp.57. 〈10.1186/s13023-016-0436-9〉
Orphanet Journal of Rare Diseases, 2015, 11 (1), pp.57. ⟨10.1186/s13023-016-0436-9⟩
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7 .
WDR81 mutations cause microlissencephaly and microcephaly and impair mitotic progression in neural progenitors
저자
by
Nadia Bahi-Buisson
;
Mara Cavallin
;
Camille Maillard
;
Claire Beneteau
;
Sandrine Passemard
, et al.
소스
European Journal of Paediatric Neurology
. 21:e84
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