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1 . Academic Journal
Alanyl-tRNA Synthetase 2-Related Dementia with Selective Bilateral Frontal Cystic Leukoencephalopathy
저자
by
Guilhem Carle
;
Alexandre Morin
;
Camille Noiray
;
Perrine Roy-Joly
;
Laurent Cohen
, et al.
소스
Journal of Clinical Neurology, 14(3), pp.420-422 Jul, 2018
Open Access (KCI)
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7 . Academic Journal
Recurrent 'outsider' intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
저자
by
Lamisse Mansour-Hendili
;
Cyril Gitiaux
;
Madeleine Harion
;
Céline Latouche
;
Bénédicte Heron
, et al.
소스
Frontiers in Genetics, Vol 15 (2024)
Open Access (DOAJ)
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Scopus
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7 . Academic Journal
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts
저자
by
Gorka Fernández-Eulate
;
Gilles C. Martin
;
Pascal Dureau
;
Claude Speeg-Spatz
;
Anais Brassier
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
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7 . Academic Journal
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression
저자
by
Walid Khrouf
;
Dario Saracino
;
Benoit Rucheton
;
Marion Houot
;
Fabienne Clot
, et al.
소스
Neurobiology of Disease, Vol 181, Iss , Pp 106108- (2023)
Full Text (ScienceDirect)
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7 . Academic Journal
A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment
저자
by
Christophe Carreau
;
Timothée Lenglet
;
Isabelle Mosnier
;
Ghizlene Lahlou
;
Guillaume Fargeot
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 7, Iss 2, Pp 250-253 (2020)
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7 . Academic Journal
Sushi domain-containing protein 4 controls synaptic plasticity and motor learning
저자
by
Inés González-Calvo
;
Keerthana Iyer
;
Mélanie Carquin
;
Anouar Khayachi
;
Fernando A Giuliani
, et al.
소스
eLife, Vol 10 (2021)
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7 . Academic Journal
Betaine anhydrous in homocystinuria: results from the RoCH registry
저자
by
Vassili Valayannopoulos
;
Manuel Schiff
;
Nathalie Guffon
;
Yann Nadjar
;
Angels García-Cazorla
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
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7 . Academic Journal
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
저자
by
María-Jesús Sobrido
;
Peter Bauer
;
Tom de Koning
;
Thomas Klopstock
;
Yann Nadjar
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-14 (2019)
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7 . Academic Journal
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
저자
by
Yann Nadjar
;
Ana Lucia Hütter-Moncada
;
Philippe Latour
;
Xavier Ayrignac
;
Elsa Kaphan
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
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7 . Academic Journal
Consensus clinical management guidelines for Niemann-Pick disease type C
저자
by
Tarekegn Geberhiwot
;
Alessandro Moro
;
Andrea Dardis
;
Uma Ramaswami
;
Sandra Sirrs
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
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