E-LIB Suche - Ergebnisse für: Nicolas Chrestian

1

Decreased dystrophin expression and elevated dystrophin-tar..:

Marmen, Maude B. ; Orfi, Zakaria ; Dort, Junio...
Acta Neuropathologica. 146 (2023) 4 - p. 655-658 , 2023

Link: https://doi.org/10.1007/..

2

Adrenal insufficiency among children treated with hormonal ..:

Doré‐Brabant, Gabrielle ; Laflamme, Geneviève ; Millette, Maude..
Epilepsia. 63 (2022) 9 - p. 2350-2358 , 2022

Link: https://doi.org/10.1111/..

3

Case report: PLPHP deficiency, a rare but important cause o..:

Alsubhi, Sarah ; Osterman, Bradley ; Chrestian, Nicolas...
Frontiers in Neurology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

4

Case Report: Two Families With HPDL Related Neurodegenerati..:

Micule, Ieva ; Lace, Baiba ; Wright, Nathan T....
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

5

Adrenal Insufficiency among Children treated with Hormonal ..:

Doré-Brabant, Gabrielle ; Cyr-Brossard, Alexanne ; Laflamme, Geneviève...
Neurology. 96 (2021) 15_supplement - p. , 2021

Link: https://doi.org/10.1212/..

6

A Homozygous Deep Intronic Mutation Alters the Splicing of ..:

Laflamme, Nathalie ; Lace, Baiba ; Thonta Setty, Samarth...
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

7

A founder mutation in the PLPBP gene in families from Sague..:

Pal, Maitou ; Lace, Baiba ; Labrie, Yvan...
JIMD Reports. 59 (2021) 1 - p. 32-41 , 2021

Link: https://doi.org/10.1002/..

8

71 Adrenal Insufficiency among Children treated with Hormon..:

Doré-Brabant, Gabrielle ; Laflamme, Geneviève ; Millette, Maude..
Paediatrics & Child Health. 26 (2021) Supplement_1 - p. e51-e51 , 2021

Link: https://doi.org/10.1093/..

9

The Occurrence of FUS Mutations in Pediatric Amyotrophic La..:

Picher-Martel, Vincent ; Brunet, Francis ; Dupré, Nicolas.
Journal of Child Neurology. 35 (2020) 8 - p. 556-562 , 2020

Link: https://doi.org/10.1177/..

10

Collagen VI-related limb-girdle syndrome caused by frequent..:

Stavusis, Janis ; Micule, Ieva ; Wright, Nathan T....
Neuromuscular Disorders. 30 (2020) 6 - p. 483-491 , 2020

Link: https://doi.org/10.1016/..

11

A First Case of Noonan Syndrome SOS2 related with Leukodyst..:

Gauvreau, Claudie ; Labrie, Yvan ; Laframboise, Rachel...
Neurology. 94 (2020) 15_supplement - p. , 2020

Link: https://doi.org/10.1212/..

12

Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in Frenc..:

Pellerin, David ; Aykanat, Asli ; Ellezam, Benjamin...
Annals of Neurology. 87 (2020) 4 - p. 568-583 , 2020

Link: https://doi.org/10.1002/..

13

Whole-exome sequencing identifies homozygous mutation in TT..:

Picher-Martel, Vincent ; Labrie, Yvan ; Rivest, Serge..
BMC Neurology. 20 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

14

A National Spinal Muscular Atrophy Registry for Real-World ..:

Hodgkinson, Victoria L. ; Oskoui, Maryam ; Lounsberry, Joshua...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 47 (2020) 6 - p. 810-815 , 2020

Link: https://doi.org/10.1017/..

15

Phenotype and Cognitive Profile in ELOVL4-Associated SCA34 ..:

Beaudin, Marie ; Sellami, Leila ; Houle, Gabrielle...
Neurology. 90 (2018) 15_supplement - p. , 2018

Link: https://doi.org/10.1212/..