Results 81 to 90 of about 2,561 (186)

Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients. [PDF]

Hum Genome Var
Bibi S, Munir A, Ali F, Frederiksen HN, Shah S, Rashid A, Oreshkov S, Uddin S, Rahman HU, Noreen S, Ullah M, Ansar M, Rehman AU.   +12 more
europepmc   +1 more source

Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene. [PDF]

Ann Indian Acad Neurol
Dash A, Mustafa F, Agarwal A, Garg D, Pandit AK, Srivastava AK, Radhakrishnan DM.   +6 more
europepmc   +1 more source

Short-term course of the neuropsychological profile in myotonic dystrophy type 1: a 12-month longitudinal study. [PDF]

BMC Neurol
Fortin J, Gaudet I, Côté I, Gagnon C, Gallais B.   +4 more
europepmc   +1 more source

Heterozygous <i>CYP27B1</i> c.262delG pathogenic variant and its impact on vitamin D metabolites and phosphocalcic profile in humans. [PDF]

Front Physiol
Girard L, Fortin CA, Plourde R, Desgagné V, Guérin R, Albert C, Desmeules M, Perron P, Bouchard L.   +8 more
europepmc   +1 more source

Developing a Replicable Cardiogenetic Care Model: Insights from the Saguenay-Lac-Saint-Jean Founder Population. [PDF]

J Community Genet
Cruz Marino T, Leblanc J, Tardif J, Thomas MJ, Pratte A, Leclerc F, Godbout J, Beaudoin J, Barabas M.   +8 more
europepmc   +1 more source

A Novel Exon Duplication in the <i>SACS</i> Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases. [PDF]

Appl Clin Genet
Fichna JP, Elert-Dobkowska E, Radziwonik-Fraczyk W, Ziora-Jakutowicz K, Wężyk MM, Berdyński M, Zaremba J, Żekanowski C, Bednarska-Makaruk M.   +8 more
europepmc   +1 more source

Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. [PDF]

Neurol Genet
Ndiaye PS, Paul S, Zhao G, Ding C, Pulst SM, Schwarz T.   +5 more
europepmc   +1 more source

Genomic analysis of Canadian children with food allergies points to the immunoglobulin heavy chain gene locus. [PDF]

Pediatr Allergy Immunol
Madore AM, Lavoie MÈ, Boucher-Lafleur AM, Gagnon-Brassard F, Gilbert N, Bégin P, Lavoie S, Rochefort-Beaudoin C, Nuncio-Naud C, Parizeault G, Morin C, Laprise C.   +11 more
europepmc   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings. [PDF]

Ann Clin Transl Neurol
Yeow D, Katz M, Rodgers J, Davis M, Robertson T, Gardner RJM, McCombe PA.   +6 more
europepmc   +1 more source

Pharmacogenetic association study of cannabis use in chronic pain. [PDF]

J Cannabis Res
Beauchesne W, Turcotte J, Mercier P, Lavoie F, Tessier L, Gagnon AL, Allard C, Fortin E, Léonard G, Gendron L, Tremblay K.   +10 more
europepmc   +1 more source