Detalhe da pesquisa
1.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707086
2.
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.
Am J Med Genet A
; 191(10): 2656-2663, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37466007
3.
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
Hum Mutat
; 42(9): 1094-1100, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34157790
4.
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C.
Neuropediatrics
; 51(1): 37-44, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31639880
5.
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
J Hum Genet
; 64(7): 609-616, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31015584
6.
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
J Med Genet
; 53(8): 511-22, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26989088
7.
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Eur J Paediatr Neurol
; 49: 141-154, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38554683
8.
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Eur J Hum Genet
; 31(11): 1251-1260, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37644171
9.
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
J Neuromuscul Dis
; 9(4): 533-541, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35694932
10.
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.
JIMD Rep
; 63(4): 292-302, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822086
11.
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
Ann Clin Transl Neurol
; 6(7): 1319-1326, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353862
12.
Blue Diaper Syndrome and PCSK1 Mutations.
Pediatrics
; 141(Suppl 5): S501-S505, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29610180
13.
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Eur J Hum Genet
; 25(2): 183-191, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27901041
14.
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.
Eur J Paediatr Neurol
; 20(4): 661-5, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27184330
15.
Next-generation sequencing in X-linked intellectual disability.
Eur J Hum Genet
; 23(11): 1513-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25649377
16.
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.
Eur J Hum Genet
; 19(5): 507-12, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21326285