Detalhe da pesquisa
1.
Molecular basis of FAAH-OUT-associated human pain insensitivity.
Brain
; 146(9): 3851-3865, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37222214
2.
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Am J Hum Genet
; 106(3): 412-421, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32142645
3.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
4.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genet Med
; 24(10): 2194-2203, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36001086
5.
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Mov Disord
; 36(4): 1034-1038, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33543803
6.
A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
Brain
; 143(6): e49, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32428220
7.
Medicinal cannabis for treating post-traumatic stress disorder and comorbid depression: real-world evidence.
BJPsych Open
; 10(2): e62, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38468390
8.
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Nat Commun
; 14(1): 1009, 2023 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36823193
9.
The value of real world evidence: The case of medical cannabis.
Front Psychiatry
; 13: 1027159, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36405915
10.
Characteristics of People Seeking Prescribed Cannabinoids for the Treatment of Chronic Pain: Evidence From Project Twenty 21.
Front Pain Res (Lausanne)
; 3: 891498, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35775024
11.
Negative screening for 12 rare LRRK2 pathogenic variants in a cohort of Nigerians with Parkinson's disease.
Neurobiol Aging
; 99: 101.e15-101.e19, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33158606
12.
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Eur J Hum Genet
; 28(12): 1763-1768, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32934340
13.
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Ann Clin Transl Neurol
; 7(9): 1716-1725, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32777174
14.
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat Genet
; 52(6): 640, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32457452
15.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat Genet
; 52(5): 473-481, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367058
16.
Correction to: DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.
J Neurol
; 268(8): 3042, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34152486
17.
LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study.
Parkinsonism Relat Disord
; 83: 110-112, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33561776