Voici un recensement des publications des membres de RARE.Qc au cours des dernières semaines.
Articles
- Cynthia Gagnon & Élise Duchesne : Mobility & Oculopharyngeal muscular dystrophy
- Geneviève Bernard : POLR3-related Leukodystrophy & Non-Affected Family Members
- Steve Bourgault: Inhibition of peptide aggregation
- William D Foulkes & Elena Netchiporouk: Cutaneous Leiomyoma Severity
- Frank Rauch : Melnick-Needles Syndrome
- Melissa Fiscaletti: Polygenic score for bone health
- Andrey V Cybulsky, Daniela Buhas & Thomas M Kitzler: Novel variants in kidney failure
- Frank Rauch & Noémi Dahan-Oliel : Functional mobility in arthrogryposis multiplex congenita
- Jean-Paul Makhzoum: Active Giant Cell Arteritis
- Andrée-Anne Roy: Hemifacial Microsomia
- Borhane Annabi: Glioblastoma 3D neurospheres
- Hugues Allard-Chamard: Genetic Landscape of Psoriatic Arthritis
- Alexander Weil, Nada Jabado & Sébastien Perreault: Cerebrospinal fluid biopsy in pediatric low-grade gliomas
- Danielle Levac : Precision rehabilitation
- Alexandre Maréchal : Single-stranded DNA-binding proteins & Telomeres
- Thomas Pincez: Vasculopathy in Sickle cell disease
- Évelyne Vinet & Sasha Bernatsky: Focus group in Systemic lupus erythematosus
- Kenneth A Myers: Lennox-Gastaut syndrome
- William D Foulkes & Elena Netchiporouk: Piloleiomyoma and renal cell carcinoma in hereditary leiomyomatosis and renal cell cancer syndrome
- Elena Netchiporouk: Microstomia in fibrosing skin disease
- Elena Netchiporouk: Pyoderma gangrenosum case report
- Jean-Philippe Leduc-Gaudet, Marc P Lussier & Gilles Gouspillou: Parkin overexpression in Duchenne muscular dystrophy mice
- Luc Laberge & Cynthia Gagnon: Sleep disorders in myotonic dystrophy type 1
- Kenneth A Myers: COL18A1 variants & neurological phenotypes
- Thomas Pincez: Immunosuppressants in pediatric autoimmune cytopenia
- Éric Samarut & J Alex Parker: C. elegans model for glycogen storage disease III
- Mathieu Desmeules & Luigi Bouchard: CYP27B1 pathogenic variant & Vitamin D metabolites
- Fabien Touzot: CD8+ T lymphocytes in hemophagocytic lymphohistiocytosis
- Simon LaRue, Jacques L Michaud, Anne-Marie Laberge & Jason Robert Guertin: Cost analysis of rare disease hospitalized children
- Philippe M Campeau & Fabien Touzot: H syndrome
- Guy A. Rouleau, Simon L. Girard, Anne-Marie Laberge, Claude Bhérer, Martine Tetreault : Multi-ancestry genetic reference for the Quebec population
- David Langlais: Genomic diversity in Borrelia burgdorferi
- Guy A Rouleau & Ziv Gan-Or: SLC25A46 & Alpha-synucleinopathies
- Stephen W Michnick : Protein-protein interactions & Epistatic genetic interactions
- Nicolas Dupré: Amyotrophic Lateral Sclerosis and Physician-assisted death
- Emilia Liana Falcone: Neurological sequelae in Long COVID
- Véronique J Moulin: Autologous 3D skin model
- Marie-Ange Delrue & Philippe M Campeau: Molecular Landscape in Congenital limb anomalies