Detalhe da pesquisa
1.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085948
2.
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
3.
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
4.
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
5.
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
6.
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
7.
Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child.
Neurol Sci
; 39(10): 1801-1803, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29951721
8.
Beneficial effects of the ketogenic diet on drug-resistant epileptic encephalopathy associated with a de novo NBEA pathogenic variant.
Epileptic Disord
; 23(5): 739-743, 2021 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34609286
9.
Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy.
Mol Syndromol
; 12(2): 101-105, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012379
10.
SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review.
J Clin Neurosci
; 94: 281-285, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863451
11.
Further delineation of PIGB-related early infantile epileptic encephalopathy.
Eur J Med Genet
; 64(10): 104268, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161862
12.
Infantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature.
Front Neurol
; 12: 718808, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34630290
13.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Genes (Basel)
; 12(8)2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440382
14.
Neuropsychological and behavioral disorders as presentation symptoms in two brothers with early-infantile Niemann-Pick type C.
Acta Biomed
; 91(3): e2020075, 2020 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32921771
15.
Long-term follow-up in infantile-onset SCAR18: A case report.
J Clin Neurosci
; 77: 232-234, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387255
16.
Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report.
Ital J Pediatr
; 45(1): 155, 2019 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31796088
17.
Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene.
Acta Biomed
; 90(1): 104-107, 2019 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30889162
18.
KCNQ2 encephalopathy: A case due to a de novo deletion.
Brain Dev
; 40(1): 65-68, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28728838
19.
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.
Brain Dev
; 39(2): 93-100, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884548
20.
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.
Ital J Pediatr
; 43(1): 97, 2017 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29078790