Detalhe da pesquisa
1.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820833
2.
Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.
Am J Med Genet A
; 176(9): 1981-1984, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178921
3.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319099
4.
Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.
J Physiol
; 589(Pt 13): 3115-24, 2011 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21521764
5.
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Brain
; 132(Pt 7): 1753-63, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19491146
6.
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.
Mol Genet Metab
; 96(4): 196-200, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19167255
7.
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
Am J Respir Crit Care Med
; 177(8): 906-11, 2008 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18079495
8.
Cerebral proliferative angiopathy: clinical and angiographic description of an entity different from cerebral AVMs.
Stroke
; 39(3): 878-85, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18239181
9.
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
Neuromuscul Disord
; 18(2): 159-66, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18077166
10.
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
JAMA Neurol
; 75(4): 495-502, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29356829
11.
MR angiography findings in infants with neonatal arterial ischemic stroke in the middle cerebral artery territory: A prospective study using circle of Willis MR angiography.
Eur J Radiol
; 85(7): 1329-35, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27235881
12.
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
13.
Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit.
Mol Genet Metab
; 101(2-3): 297-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20797884
14.
Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis.
J Pediatr Gastroenterol Nutr
; 50(4): 447-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20216097
15.
Aphasia owing to subcortical brain infarcts in childhood.
J Child Neurol
; 20(12): 1003-8, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16417851
16.
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
Eur J Hum Genet
; 23(6): 880-2, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25227147
17.
Sturge-Weber disease with repercussion on the prenatal development of the cerebral hemisphere.
AJNR Am J Neuroradiol
; 23(3): 490-2, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11901026
18.
Ischaemic stroke from dissection of the craniocervical arteries in childhood: report of 12 patients.
Eur J Paediatr Neurol
; 7(1): 39-42, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12615173
19.
Acute transverse myelitis in children: clinical course and prognostic factors.
J Child Neurol
; 18(6): 401-6, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12886975
20.
Early onset (childhood) monogenic neuropathies.
Handb Clin Neurol
; 115: 863-91, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23931819