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1 . Academic Journal
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type
저자
by
Audic, Frédérique
;
Dubois, Sonia M.
;
Durigneux, Julien
;
Barnerias, Christine
;
Isapof, Arnaud
, et al.
소스
In
Archives de pédiatrie
February 2024 31(2):117-123
Full Text (ScienceDirect)
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7 . Academic Journal
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
저자
by
Marzin, Pauline
;
Mignot, Cyril
;
Dorison, Nathalie
;
Dufour, Louis
;
Ville, Dorothée
, et al.
소스
In
Brain and Development
October 2018 40(9):768-774
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7 . Academic Journal
Soins palliatifs dans les maladies neuromusculaires de l’enfant. Expérience d’une coopération entre une équipe de neuropédiatrie et une équipe ressource douleur et soins palliatifs pédiatriques
저자
by
Alberge, Marie-Claire
;
Brocq, Héléne
;
Richelme, Christian
;
Chappuis, Viviane
;
Lantéri-Minet, Michel
, et al.
소스
In
Medecine Palliative Soins de Support - Accompagnement - Ethique
2010 9(6):297-302
Full Text (ScienceDirect)
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7 . Academic Journal
Case Report: Anti-NMDAR Encephalitis Presenting With Catatonic Symptoms in an Adolescent Female Patient With a History of Traumatic Exposure.
저자
by
Bogdan, Anamaria
;
Askenazy, Florence
;
Richelme, Christian
;
Gindt, Morgane
;
Thümmler, Susanne
, et al.
소스
Frontiers in Psychiatry; 1/28/2022, Vol. 13, p1-6, 6p
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7 . Academic Journal
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
저자
by
Audic, Frédérique
;
de la Banda, Marta Gomez Garcia
;
Bernoux, Delphine
;
Ramirez-Garcia, Paola
;
Durigneux, Julien
, et al.
소스
Orphanet Journal of Rare Diseases
. 6/12/2020, Vol. 15 Issue 1, p1-10. 10p.
Open Access (BioMed Central)
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7 . Academic Journal
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
저자
by
Lagrue, Emmanuelle
;
Dogan, Céline
;
De Antonio, Marie
;
Audic, Frédérique
;
Bach, Nathalie
, et al.
소스
Neurology
. Jan 18, 2019
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7 . Academic Journal
Nusinersen chez l'enfant : évolution ou révolution ?: Utilisation clinique des traitements innovants, repositionnés ou hors AMM : le vécu du terrain (2). (French)
저자
by
Richelme, Christian
.
소스
Médecine Sciences; 2019 Special Issue, Vol. 35, p22-25, 4p
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3 . Academic Journal
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
저자
by
Dufour, Louis
;
Keren, Boris
;
Nava, Caroline
;
Depienne, Christel
;
Marzin, Pauline
, et al.
소스
Brain & Development
. Oct2018, Vol. 40 Issue 9, p768-774. 7p.
Full Text (ScienceDirect)
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7 . Periodical
NDUFS6related Leigh syndrome: a case report and review of the literature
저자
by
Rouzier, Cécile
;
Chaussenot, Annabelle
;
Fragaki, Konstantina
;
Serre, Valérie
;
Ait-El-Mkadem, Samira
, et al.
소스
Journal of Human Genetics; July 2019, Vol. 64 Issue: 7 p637-645, 9p
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7 . Academic Journal
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.
저자
by
Fragaki, Konstantina
;
Chaussenot, Annabelle
;
Boutron, Audrey
;
Bannwarth, Sylvie
;
Cochaud, Charlotte
, et al.
소스
Muscle & Nerve
. Jun2017, Vol. 55 Issue 6, p919-922. 4p.
Full Text (Wiley)
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