Detalhe da pesquisa
1.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193360
2.
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
3.
Isolation of casein for stable isotope ratio analysis of butter, cheese, and milk powder.
Rapid Commun Mass Spectrom
; 37(5): e9402, 2023 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36166281
4.
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.
Ann Neurol
; 90(2): 193-202, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184781
5.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome: genetic and clinical insights.
Curr Opin Neurol
; 34(4): 556-564, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34227574
6.
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Mov Disord
; 36(1): 251-255, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33026126
7.
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Brain
; 143(10): 2904-2910, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33103729
8.
A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
Brain
; 143(9): 2673-2680, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32851396
9.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
; 143(2): 480-490, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040566
10.
NOTCH2NLC Intermediate-Length Repeat Expansion and Parkinson's Disease in Patients of European Descent.
Ann Neurol
; 89(3): 633-635, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33377220
11.
Animal products in anaesthesia: navigating complex requests.
Br J Anaesth
; 128(1): e2-e4, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657664
12.
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy.
Ann Neurol
; 88(3): 641-642, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32542757
13.
RFC1-related ataxia is a mimic of early multiple system atrophy.
J Neurol Neurosurg Psychiatry
; 2021 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33563805
14.
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
Mov Disord
; 35(10): 1890-1891, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33068477
15.
RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy.
Mov Disord
; 35(7): 1277-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333430
16.
A comparison of the revised Delirium Rating Scale (DRS-R98) and the Memorial Delirium Assessment Scale (MDAS) in a palliative care cohort with DSM-IV delirium.
Palliat Support Care
; 13(4): 937-44, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24991706
17.
Verifying origin claims on dairy products using stable isotope ratio analysis and random forest classification.
Food Chem X
; 19: 100858, 2023 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37780346
18.
Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction.
Sci Transl Med
; 15(694): eadg3904, 2023 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37134150
19.
CD4+ T cells are homeostatic regulators during Mtb reinfection.
bioRxiv
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38187598
20.
CD8+ lymphocytes are critical for early control of tuberculosis in macaques.
J Exp Med
; 220(12)2023 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37843832