Detalhe da pesquisa
1.
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
2.
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
3.
Identification of gene fusions associated with amyotrophic lateral sclerosis.
Muscle Nerve
; 69(4): 477-489, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38305586
4.
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
5.
Rare neurovascular genetic and imaging markers across neurodegenerative diseases.
Alzheimers Dement
; 19(12): 5583-5595, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272523
6.
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
7.
DnaJC7 in Amyotrophic Lateral Sclerosis.
Int J Mol Sci
; 23(8)2022 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456894
8.
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
9.
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
10.
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
11.
Lipocalin-2 is increased in amyotrophic lateral sclerosis.
Muscle Nerve
; 62(2): 272-283, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369618
12.
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
13.
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
14.
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
15.
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
16.
The Ontario Neurodegenerative Disease Research Initiative (ONDRI).
Can J Neurol Sci
; 44(2): 196-202, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003035
17.
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
18.
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
19.
Exome sequencing: new insights into lipoprotein disorders.
Curr Cardiol Rep
; 16(7): 507, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24893940
20.
Transcriptomics of Human Brain Tissue in Parkinson's Disease: a Comparison of Bulk and Single-cell RNA Sequencing.
Mol Neurobiol
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578357