Detalhe da pesquisa
1.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
2.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
3.
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.
Neuromuscul Disord
; 33(5): 410-416, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37037050
4.
Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": an exceptional phenotype in a rare pathology.
Alzheimer Dis Assoc Disord
; 26(1): 96-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-21572310
5.
Crohn's disease-related 'gastrocnemius myalgia syndrome' successfully treated with infliximab: A case report.
World J Gastroenterol
; 28(7): 755-762, 2022 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35317272
6.
ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature.
Eur J Med Genet
; 65(4): 104469, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35276412
7.
Necroptotic neuronal cell death in amyotrophic lateral sclerosis: A relevant hypothesis with potential therapeutic implication?
Med Hypotheses
; 144: 110295, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33254488
8.
TNF-alpha system response in a rat model of very preterm brain injuries induced by lipopolysaccharide and/or hypoxia-ischemia.
Am J Obstet Gynecol
; 201(5): 493.e1-10, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19660730
9.
Frequency tuning curves derived from auditory steady state evoked potentials: a proof-of-concept study.
Ear Hear
; 30(1): 43-53, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19125026
10.
Role of perinatal inflammation in cerebral palsy.
Pediatr Neurol
; 40(3): 168-74, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19218029
11.
Pro-inflammatory disequilibrium of the IL-1 beta/IL-1ra ratio in an experimental model of perinatal brain damages induced by lipopolysaccharide and hypoxia-ischemia.
Cytokine
; 43(1): 54-62, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18511291
12.
Lipopolysaccharide and hypoxia/ischemia induced IL-2 expression by microglia in neonatal brain.
Neuroreport
; 19(10): 997-1002, 2008 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-18580568
13.
Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
Eur J Paediatr Neurol
; 12(1): 46-50, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17616409
14.
Dermatomyositis Associated with Sarcoidosis: Two Cases.
Eur J Case Rep Intern Med
; 4(1): 000500, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-30755904
15.
First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.
Case Rep Pediatr
; 2017: 9523427, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28770119
16.
Levetiracetam in a neonate with malignant migrating partial seizures.
Pediatr Neurol
; 34(1): 55-9, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16376281
17.
In-situ expression of Interleukin-18 and associated mediators in the human brain of sALS patients: Hypothesis for a role for immune-inflammatory mechanisms.
Med Hypotheses
; 86: 14-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26804591
18.
Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency.
Neuromuscul Disord
; 26(3): 207-10, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26883264
19.
Moderate Hyperbilirubinemia Alters Neonatal Cardiorespiratory Control and Induces Inflammation in the Nucleus Tractus Solitarius.
Front Physiol
; 7: 437, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27746740
20.
Incongruent cerebral growth in sudden infant death syndrome.
J Child Neurol
; 20(3): 244-6, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15832619