Detalhe da pesquisa
1.
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Hum Mol Genet
; 31(19): 3231-3244, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35234901
2.
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Hum Mutat
; 40(7): 962-974, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30932294
3.
Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.
Neuropediatrics
; 47(1): 64-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26619324
4.
Mutations in RARS cause hypomyelination.
Ann Neurol
; 76(1): 134-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24777941
5.
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11ß gene.
J Med Genet
; 49(5): 307-13, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581968
6.
Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.
Eur J Paediatr Neurol
; 41: 91-98, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36410285
7.
Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire.
Life (Basel)
; 11(8)2021 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440515
8.
The lumbosacral angle does not reflect progressive tethered cord syndrome in children with spinal dysraphism.
Childs Nerv Syst
; 26(12): 1757-64, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20857121
9.
Effect of seat surface inclination on postural control during reaching in preterm children with cerebral palsy.
Phys Ther
; 87(7): 861-71, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17472949
10.
The juvenile head trauma syndrome - Deterioration after mild TBI: Diagnosis and clinical presentation at the Emergency Department.
Eur J Paediatr Neurol
; 21(2): 344-349, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27707655
11.
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
Neurology
; 87(14): 1442-1448, 2016 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27590285
12.
Intermittent prednisone therapy in Duchenne muscular dystrophy: a randomized controlled trial.
Arch Neurol
; 62(1): 128-32, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15642859
13.
Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients.
Eur J Paediatr Neurol
; 9(6): 387-93, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16102988
14.
Kinematic characteristics of reaching movements in preterm children with cerebral palsy.
Pediatr Res
; 57(6): 883-9, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15774828
15.
Kinematic characteristics of postural control during reaching in preterm children with cerebral palsy.
Pediatr Res
; 58(3): 586-93, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16148078
16.
Predictive value of clinical evaluation in the follow-up of children with a brain tumor.
Med Pediatr Oncol
; 38(4): 254-7, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11920789
17.
Postural control during reaching in preterm children with cerebral palsy.
Dev Med Child Neurol
; 46(4): 253-66, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15077703
18.
Prognostic significance of amplitude-integrated EEG during the first 72 hours after birth in severely asphyxiated neonates.
Pediatr Res
; 55(6): 1026-33, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15155870