Works by Derksen, Alexa

Results: 9

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/7377504

By:

Derksen, Alexa;
Thompson, Rachel;
Shaikh, Madeeha;
Spendiff, Sally;
Perkins, Theodore J.;
Lochmüller, Hanns;
Olszewska, Marta

Publication type:

Article

A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211027438

By:

Derksen, Alexa;
Mirchi, Amytice;
Tran, Luan T.;
Cao-Lei, Lei;
Oskoui, Maryam;
Srour, Myriam;
Poulin, Chantal;
Bernard, Geneviève

Publication type:

Article

A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211027438

By:

Derksen, Alexa;
Mirchi, Amytice;
Tran, Luan T.;
Cao-Lei, Lei;
Oskoui, Maryam;
Srour, Myriam;
Poulin, Chantal;
Bernard, Geneviève

Publication type:

Article

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 3, p. 262, doi. 10.3390/metabo12030262

By:

Ghaleb, Youmna;
Elbitar, Sandy;
Philippi, Anne;
El Khoury, Petra;
Azar, Yara;
Andrianirina, Miangaly;
Loste, Alexia;
Abou-Khalil, Yara;
Nicolas, Gaël;
Le Borgne, Marie;
Moulin, Philippe;
Di-Filippo, Mathilde;
Charrière, Sybil;
Farnier, Michel;
Yelnick, Cécile;
Carreau, Valérie;
Ferrières, Jean;
Lecerf, Jean-Michel;
Derksen, Alexa;
Bernard, Geneviève

Publication type:

Article

mGluR5 Allosteric Modulation Promotes Neurorecovery in a 6-OHDA-Toxicant Model of Parkinson's Disease.

Published in:

Molecular Neurobiology, 2020, v. 57, n. 3, p. 1418, doi. 10.1007/s12035-019-01818-z

By:

Farmer, Kyle;
Abd-Elrahman, Khaled S.;
Derksen, Alexa;
Rowe, Elyn M.;
Thompson, Ashley M.;
Rudyk, Christopher A.;
Prowse, Natalie A.;
Dwyer, Zachary;
Bureau, Samantha C.;
Fortin, Teresa;
Ferguson, Stephen S.G.;
Hayley, Shawn

Publication type:

Article

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Published in:

Neurogenetics, 2022, v. 23, n. 4, p. 271, doi. 10.1007/s10048-022-00697-2

By:

Mirchi, Amytice;
Derksen, Alexa;
Tran, Luan T.;
De Bie, Isabelle;
Nadeau, Amélie;
Lovett, Audrey;
Raams, Anja;
Vermeulen, Wim;
Theil, Arjan F.;
Bernard, Geneviève

Publication type:

Article

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 151, doi. 10.1007/s10048-022-00683-8

By:

Macintosh, Julia;
Derksen, Alexa;
Poulin, Chantal;
Braverman, Nancy;
Vanderver, Adeline;
Thiffault, Isabelle;
Albrecht, Steffen;
Bernard, Geneviève

Publication type:

Article

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

Published in:

2022

By:

Bainbridge, Matthew N;
Mazumder, Aloran;
Ogasawara, Daisuke;
Jamra, Rami Abou;
Bernard, Geneviève;
Bertini, Enrico;
Burglen, Lydie;
Cope, Heidi;
Crawford, Ali;
Derksen, Alexa;
Dure, Leon;
Gantz, Emily;
Koch-Hogrebe, Margarete;
Hurst, Anna C E;
Mahida, Sonal;
Marshall, Paige;
Micalizzi, Alessia;
Novelli, Antonio;
Peng, Hongfan;
Medicine, Rady Children's Institute for Genomic

Publication type:

journal article

Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.

Published in:

Molecules, 2024, v. 29, n. 21, p. 5211, doi. 10.3390/molecules29215211

By:

Manis, Cristina;
Casula, Mattia;
Roos, Andreas;
Hentschel, Andreas;
Vorgerd, Matthias;
Pogoryelova, Oksana;
Derksen, Alexa;
Spendiff, Sally;
Lochmüller, Hanns;
Caboni, Pierluigi

Publication type:

Article