Detalhe da pesquisa
1.
Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.
Neurogenetics
; 16(2): 145-9, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25432320
2.
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?
Neuropediatrics
; 46(2): 104-9, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25686202
3.
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
Metab Brain Dis
; 30(3): 681-6, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25156245
4.
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
Nat Genet
; 38(10): 1111-3, 2006 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-16951682
5.
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
Neurogenetics
; 15(2): 101-6, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24478108
6.
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
Clin Genet
; 85(3): 267-72, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23711321
7.
Periventricular nodular heterotopia in Smith-Magenis syndrome.
Am J Med Genet A
; 164A(12): 3142-7, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25257626
8.
Magnetic resonance imaging "tigroid pattern" in Alexander disease.
Neuropediatrics
; 44(3): 174-6, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23254569
9.
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Neurogenetics
; 13(3): 195-203, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22526352
10.
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
Dev Med Child Neurol
; 54(5): 472-6, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22142326
11.
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.
J Inherit Metab Dis
; 34(6): 1225-7, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21826524
12.
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Hum Mutat
; 31(12): E1894-914, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20886637
13.
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.
Biochim Biophys Acta
; 1792(6): 548-54, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19376225
14.
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities.
Ann Hum Genet
; 74(6): 506-15, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-20946255
15.
Anti-N-methyl-D-aspartate-receptor encephalitis in a four-year-old girl.
J Pediatr
; 156(2): 332-4, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20105645
16.
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
Eur J Pediatr
; 169(4): 475-81, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19838731
17.
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Hum Mutat
; 30(3): E530-40, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19177532
18.
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Hum Mutat
; 30(3): E500-19, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19105190
19.
AIMP1/p43 mutation and PMLD.
Am J Hum Genet
; 88(3): 391; author reply 393-5, 2011 Mar 11.
Artigo
Inglês
| MEDLINE | ID: mdl-21397066
20.
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Biochem Biophys Res Commun
; 379(4): 892-7, 2009 Feb 20.
Artigo
Inglês
| MEDLINE | ID: mdl-19135028