Detalhe da pesquisa
1.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
2.
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ann Neurol
; 86(2): 310-315, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187502
3.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472658
4.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Brain
; 142(6): 1547-1560, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31081514
5.
Reading comprehension difficulties in children with rolandic epilepsy.
Dev Med Child Neurol
; 60(3): 275-282, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29238964
6.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics
; 48(3): 166-184, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561207
7.
How to use tests for disorders of copper metabolism.
Arch Dis Child Educ Pract Ed
; 102(6): 319-327, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28751535
8.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Am J Med Genet A
; 167A(2): 296-312, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604658
9.
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
10.
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
Mol Genet Metab
; 113(4): 301-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25458521
11.
Autoantibody biomarkers in childhood-acquired demyelinating syndromes: results from a national surveillance cohort.
J Neurol Neurosurg Psychiatry
; 85(4): 456-61, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24133290
12.
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Brain
; 136(Pt 12): 3634-44, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24176978
13.
Comparison of antiepileptic drugs, no treatment, or placebo for children with benign epilepsy with centro temporal spikes.
Cochrane Database Syst Rev
; (9): CD006779, 2014 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25190506
14.
Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features.
Mult Scler
; 19(1): 76-86, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22516794
15.
Text integration processes in children with Childhood Epilepsy with Centro-Temporal Spikes.
Epilepsy Res
; 192: 107136, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37068422
16.
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Brain Commun
; 5(5): fcad222, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794925
17.
Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy.
Arch Dis Child
; 107(2): 160-165, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244165
18.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain
; 133(Pt 3): 655-70, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20129935
19.
Paediatric UK demyelinating disease longitudinal study (PUDDLS).
BMC Pediatr
; 11: 68, 2011 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21798048
20.
Quantitative assessment of sitting time in ambulant adults with Muscular Dystrophy.
PLoS One
; 16(11): e0260491, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797883