Detalhe da pesquisa
1.
APOE alleles are associated with sex-specific structural differences in brain regions affected in Alzheimer's disease and related dementia.
PLoS Biol;
20(12): e3001863, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36512526
2.
Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome.
Genet Med;
26(1): 100967, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37638500
3.
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Epilepsia;
65(3): 709-724, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38231304
4.
Identification of gene fusions associated with amyotrophic lateral sclerosis.
Muscle Nerve;
69(4): 477-489, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38305586
5.
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes.
Brain;
146(11): 4608-4621, 2023 11 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37394881
6.
Association of plasma biomarkers with cognition, cognitive decline, and daily function across and within neurodegenerative diseases: Results from the Ontario Neurodegenerative Disease Research Initiative.
Alzheimers Dement;
20(3): 1753-1770, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38105605
7.
Rare neurovascular genetic and imaging markers across neurodegenerative diseases.
Alzheimers Dement;
19(12): 5583-5595, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37272523
8.
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Hum Mutat;
43(3): 305-315, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35026043
9.
DnaJC7 in Amyotrophic Lateral Sclerosis.
Int J Mol Sci;
23(8)2022 Apr 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35456894
10.
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.
Mol Cell Biochem;
476(7): 2633-2650, 2021 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33661429
11.
Modulation of hippocampal neuronal resilience during aging by the Hsp70/Hsp90 co-chaperone STI1.
J Neurochem;
153(6): 727-758, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31562773
12.
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
Hum Genomics;
13(1): 19, 2019 04 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30992063
13.
Lipocalin-2 is increased in amyotrophic lateral sclerosis.
Muscle Nerve;
62(2): 272-283, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32369618
14.
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Hum Mol Genet;
26(21): 4278-4289, 2017 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28973161
15.
Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative.
Can J Neurol Sci;
46(5): 491-498, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31217043
16.
OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.
Am J Med Genet B Neuropsychiatr Genet;
177(1): 75-85, 2018 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29080331
17.
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
Am J Med Genet A;
173(1): 183-189, 2017 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27991736
18.
The Ontario Neurodegenerative Disease Research Initiative (ONDRI).
Can J Neurol Sci;
44(2): 196-202, 2017 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28003035
19.
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
J Med Genet;
52(10): 666-75, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26246518
20.
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
Epilepsia;
55(9): e106-11, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25060828