Works matching AU 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
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
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
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
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