Detalhe da pesquisa
1.
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.
Cell
; 186(6): 1162-1178.e20, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36931244
2.
Resting-state activity in development and maintenance of normal brain function.
Proc Natl Acad Sci U S A
; 108(28): 11638-43, 2011 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21709227
3.
Disease Course and Response to Immunotherapy in Children With Childhood Disintegrative Disorder: A Retrospective Case Series.
J Child Neurol
; 39(1-2): 11-21, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38115714
4.
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
HGG Adv
; 5(3): 100288, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38566418
5.
Limited regional cerebellar dysfunction induces focal dystonia in mice.
Neurobiol Dis
; 49: 200-10, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22850483
6.
Aphasia Associated With Acute on Chronic Kidney Failure in an Adolescent.
Cureus
; 15(11): e49044, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38116335
7.
Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
Orphanet J Rare Dis
; 18(1): 269, 2023 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667351
8.
Opioid and benzodiazepine use during therapeutic hypothermia in encephalopathic neonates.
J Perinatol
; 40(1): 79-88, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31616049
9.
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.
Cold Spring Harb Mol Case Stud
; 3(6)2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28729373
10.
Abnormal cerebellar signaling induces dystonia in mice.
J Neurosci
; 22(17): 7825-33, 2002 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12196606
11.
PURA Syndrome and Myotonia.
Pediatr Neurol
; 104: 62-63, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31911028
12.
Thinner Retinal Nerve Fiber Layer in Very Preterm Versus Term Infants and Relationship to Brain Anatomy and Neurodevelopment.
Am J Ophthalmol
; 160(6): 1296-1308.e2, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26386157
13.
Diffuse reduction of white matter connectivity in cerebral palsy with specific vulnerability of long range fiber tracts.
Neuroimage Clin
; 2: 440-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24179798