Detalhe da pesquisa
1.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet
; 108(11): 2195-2204, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34715011
2.
A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.
Genes Dev
; 30(7): 812-26, 2016 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27013236
3.
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.
Am J Hum Genet
; 106(5): 694-706, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32359472
4.
The effectiveness of cognitive behavioural therapy and third-wave cognitive behavioural interventions on diabetes-related distress: A systematic review and meta-analysis.
Diabet Med
; 39(11): e14948, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36031793
5.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029936
6.
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.
J Allergy Clin Immunol
; 140(2): 543-552.e5, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087229
7.
Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.
J Immunol
; 194(6): 2819-25, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25672750
8.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Am J Hum Genet
; 92(4): 605-13, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23541340
9.
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
Hum Mutat
; 36(5): 489-95, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25726928
10.
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.
J Med Genet
; 51(2): 76-82, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24262145
11.
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
Neuropediatrics
; 45(3): 175-82, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24407470
12.
Self-reported symptom burden in postural orthostatic tachycardia syndrome (POTS): A narrative review of observational and interventional studies.
Auton Neurosci
; 244: 103052, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36525900
13.
Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?
Am J Med Genet A
; 155A(1): 9-13, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204205
14.
Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.
Am J Med Genet A
; 155A(12): 2910-5, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002932
15.
Genome sequencing in persistently unsolved white matter disorders.
Ann Clin Transl Neurol
; 7(1): 144-152, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31912665
16.
Towards evidence-based emergency medicine: best BETs from the Manchester Royal Infirmary. BET 1: do bisphosphonates relieve pain caused by acute osteoporotic vertebral compression fractures?
Emerg Med J
; 28(3): 242-3, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21367798
17.
The relative risk of police use-of-force options: evaluating the potential for deployment of electronic weaponry.
J Clin Forensic Med
; 13(5): 229-41, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16442332
18.
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.
Eur J Paediatr Neurol
; 20(4): 604-10, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27091087
19.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 48(10): 1185-92, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27571260
20.
What are the highest priorities for research in emergency prehospital care?
Emerg Med J
; 26(8): 549-50, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19625545