Detalhe da pesquisa
1.
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
Neurogenetics
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38652341
2.
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Int J Mol Sci
; 25(2)2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279250
3.
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.
Cerebellum
; 2023 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831383
4.
Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report.
Am J Med Genet A
; 188(10): 3118-3120, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35880249
5.
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Cerebellum
; 20(4): 596-605, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619652
6.
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.
Am J Med Genet A
; 182(11): 2675-2679, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875707
7.
Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.
Dev Med Child Neurol
; 62(9): 1068-1074, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277485
8.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Brain
; 141(11): 3160-3178, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351409
9.
Posterior Cranial Fossa Malformation and Vascular Dysplasia in GJB2 Gene Mutation.
Can J Neurol Sci
; : 1-3, 2023 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37680178
10.
"Minimal" holoprosencephaly in a 14q deletion syndrome patient.
Am J Med Genet A
; 173(12): 3216-3220, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29136354
11.
Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy.
Cerebellum
; 20(3): 481-483, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33188499
12.
Early-onset Dopamine Transporter Deficiency Syndrome: Long-term Follow-up.
Can J Neurol Sci
; 48(2): 285-286, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32646530
13.
A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype.
J Neuroophthalmol
; 41(1): e85-e88, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141982
14.
IRF2BPL gene variants: One new case.
Am J Med Genet A
; 182(1): 255-256, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729144
15.
On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure.
Genet Med
; 21(7): 1663-1664, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30531813
16.
Tick-Borne Encephalitis in a 6-Year-Old Patient: A Case Report.
Neurohospitalist
; 14(1): 64-68, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38235031
17.
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
J Neuromuscul Dis
; 11(1): 213-219, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38143368
18.
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
BMC Med Genomics
; 17(1): 68, 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38443934
19.
Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients.
Epilepsia
; 54(12): 2204-13, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24116895
20.
RNASEH2B Pathogenic Gene Variant in Uncomplicated Hereditary Spastic Paraplegia: Report of a New Patient.
Neuropediatrics
; 49(6): 419, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30223285