Detalhe da pesquisa
1.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604360
2.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452721
3.
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
Hum Mutat
; 43(10): 1361-1367, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753050
4.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Clin Genet
; 102(1): 40-55, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388452
5.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Mov Disord
; 36(3): 690-703, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152132
6.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
J Inherit Metab Dis
; 44(4): 1070-1082, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443316
7.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
8.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
9.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Am J Hum Genet
; 98(5): 981-992, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108798
10.
Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy.
Epilepsia
; 60(1): 139-148, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30478917
11.
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Neurogenetics
; 16(1): 33-42, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231362
12.
Response to everolimus of a progressive plexiform neurofibroma in Neurofibromatosis type 1.
Pediatr Int
; 62(7): 857-859, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027426
13.
Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex.
J Neurooncol
; 118(2): 205-223, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24771286
14.
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene.
Am J Med Genet A
; 161A(5): 1091-5, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23463737
15.
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.
Mol Genet Metab Rep
; 35: 100962, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909454
16.
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
17.
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
Am J Hum Genet
; 84(1): 44-51, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19118815
18.
Successful response to cidofovir of adenovirus hepatitis during chemotherapy in a child with hepatoblastoma.
J Pediatr Hematol Oncol
; 34(7): e298-300, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22935664
19.
Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.
Orphanet J Rare Dis
; 17(1): 340, 2022 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36064416
20.
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.
Parkinsonism Relat Disord
; 94: 67-78, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34890878