Detalhe da pesquisa
1.
PHF21A Related Disorder: Description of a New Case.
Int J Mol Sci
; 23(24)2022 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555772
2.
Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation.
J Musculoskelet Neuronal Interact
; 20(4): 610-613, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33265090
3.
Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis.
PLoS Genet
; 10(7): e1004491, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25010521
4.
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
Am J Med Genet A
; 164A(8): 1923-30, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24733578
5.
GRIN2A: involvement in movement disorders and intellectual disability without seizures.
Neurol Sci
; 40(11): 2405-2406, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31098720
6.
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Hum Mutat
; 34(2): 296-300, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23086778
7.
The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?
Neurol Sci
; 34(7): 1223-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23354605
8.
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
Am J Hum Genet
; 85(3): 394-400, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19716111
9.
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Biomedicines
; 10(9)2022 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36140376
10.
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
Neurol Sci
; 37(5): 805-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26700800
11.
Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).
Epileptic Disord
; 13(3): 240-51, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21926047
12.
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs.
Brain Sci
; 11(10)2021 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34679357
13.
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype.
Mol Syndromol
; 12(5): 327-332, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34602961
14.
Novel compound heterozygous mutation in NPC1 gene cause Niemann-Pick disease type C with juvenile onset.
J Genet
; 992020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32482919
15.
EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study.
J Autism Dev Disord
; 49(6): 2337-2347, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30726535
16.
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.
Eur J Hum Genet
; 27(6): 909-918, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30683929
17.
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys.
Am J Med Genet A
; 146A(7): 803-12, 2008 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18286595
18.
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis.
J Genet
; 97(5): 1469-1472, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30555096
19.
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene.
Neuromuscul Disord
; 17(3): 258-61, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17241783
20.
A reduced number of metabotropic glutamate subtype 5 receptors are associated with constitutive homer proteins in a mouse model of fragile X syndrome.
J Neurosci
; 25(39): 8908-16, 2005 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-16192381