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1 . Academic Journal
Primary mitochondrial disorders and mimics: Insights from a large French cohort
저자
by
Cécile Rouzier
;
Emmanuelle Pion
;
Annabelle Chaussenot
;
Céline Bris
;
Samira Ait‐El‐Mkadem Saadi
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)
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7 . Academic Journal
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
저자
by
Aurélie de Thonel
;
Johanna K. Ahlskog
;
Kevin Daupin
;
Véronique Dubreuil
;
Jérémy Berthelet
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
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7 . Academic Journal
Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
저자
by
Aurélie de Thonel
;
Johanna K. Ahlskog
;
Kevin Daupin
;
Véronique Dubreuil
;
Jérémy Berthelet
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
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7 . Academic Journal
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
저자
by
Holger Hengel
;
Célia Bosso-Lefèvre
;
George Grady
;
Emmanuelle Szenker-Ravi
;
Hankun Li
, et al.
소스
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
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7 . Academic Journal
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort
저자
by
Claire-Marine Bérat
;
Célina Roda
;
Anais Brassier
;
Juliette Bouchereau
;
Camille Wicker
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100655- (2021)
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7 . Academic Journal
A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation
저자
by
Elise Lebigot
;
Manuel Schiff
;
Marie-Pierre Golinelli-Cohen
.
소스
Biomedicines, Vol 9, Iss 8, p 989 (2021)
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5 .
Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1
저자
by
Merve Emecen Sanli
;
Basak Cengiz
;
Ayse Kilic
;
Ekin Ozsaydi
;
Asli Inci
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 35:497-503
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7 .
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory
저자
by
Kenneth Chappell
;
Bruno Francou
;
Christophe Habib
;
Thomas Huby
;
Marco Leoni
, et al.
소스
Clinical Chemistry
. 68:313-321
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7 .
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up
저자
by
Magali Gorce
;
Elise Lebigot
;
Alina Arion
;
Anaïs Brassier
;
Aline Cano
, et al.
소스
Journal of inherited metabolic disease, Vol. 45, no.2, p. 215-222 (2022)
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7 .
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy
저자
by
Claire Pujol
;
Elise Lebigot
;
Pauline Gaignard
;
Said Galai
;
Ichraf Kraoua
, et al.
소스
Research Square
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, pp.awac444. ⟨10.1093/brain/awac444⟩
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