Detalhe da pesquisa
1.
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Int J Mol Sci
; 24(22)2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003592
2.
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Neuropathol Appl Neurobiol
; 48(5): e12817, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35342985
3.
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Clin Genet
; 101(2): 233-241, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34842280
4.
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.
Am J Med Genet A
; 188(1): 147-159, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34590414
5.
The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.
Clin Chem Lab Med
; 56(2): 229-235, 2018 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742514
6.
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Mov Disord
; 32(11): 1620-1630, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28845923
7.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome Med
; 15(1): 68, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679823
8.
Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation.
J Pediatr Genet
; 12(2): 159-162, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090830
9.
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.
J Child Neurol
; 37(5): 340-350, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35072530
10.
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.
Ann Clin Transl Neurol
; 8(9): 1809-1816, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34323022
11.
Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.
Front Neurol
; 12: 784892, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34917021
12.
Venous sinus thrombosis in pediatrics. Case series of a tertiary hospital. / Trombosis de senos venosos en pediatría. Serie de casos de un hospital terciario.
Andes Pediatr
; 92(3): 389-394, 2021 Jun.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-34479245
13.
[Neurological sequelae in patients with congenital cytomegalovirus]. / Secuelas neurológicas en pacientes con infección congénita por citomegalovirus.
An Pediatr (Engl Ed)
; 93(2): 111-117, 2020 Aug.
Artigo
em Espanhol
| MEDLINE | ID: mdl-32111550
14.
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study.
Lancet Neurol
; 19(3): 234-246, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32057303
15.
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.
Int J Endocrinol Metab
; 16(3): e67329, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30323850
16.
[Neurological appraisal of children and adolescents with psychotic symptoms]. / Valoracion neurologica de niños y adolescentes con sintomas psicoticos.
Rev Neurol
; 60(9): 420-8, 2015 May 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-25912704
17.
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.
Pediatr Neurol
; 112: 53-55, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32911264
18.
[Clinico-radiological profile of acute disseminated encephalomyelitis in the childhood population. A retrospective analysis of a series of 20 patients in a tertiary hospital]. / Perfil clinicorradiológico de la encefalomielitis aguda diseminada en la población infantil. Análisis retrospectivo de una serie de 20 pacientes de un hospital terciario.
Rev Neurol
; 58(1): 11-9, 2014 Jan 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-24343536
19.
[Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity]. / Hipomielinización con atrofia de ganglios basales y de cerebelo. Aportación de dos nuevos casos a una entidad de descripción reciente.
Rev Neurol
; 58(4): 161-5, 2014 Feb 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-24504878
20.
[Fulminant acute cerebellitis: An under-diagnosed condition?] / Cerebelitis aguda fulminante, ¿una entidad infradiagnosticada?
An Pediatr (Engl Ed)
; 90(3): 188-190, 2019 Mar.
Artigo
em Espanhol
| MEDLINE | ID: mdl-29773526