Detalhe da pesquisa
1.
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
J Inherit Metab Dis
; 44(4): 972-986, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320377
2.
[Consensus statement of the Hungarian Clinical Neurogenic Society about the therapy of adult SMA patients]. / A Magyar Klinikai Neurogenetikai Társaság konszenzusajánlása a felnottkori spinalis izomatrophia (SMA) kezeléséhez.
Ideggyogy Sz
; 74(3-4): 79-86, 2021 Mar 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-33938671
3.
Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations.
BMC Med Genet
; 19(1): 113, 2018 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29986653
4.
Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases.
Muscle Nerve
; 55(4): 564-569, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27489983
5.
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.
Clin Chem Lab Med
; 55(6): 809-816, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002029
6.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Hum Mutat
; 36(4): 395-402, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604253
7.
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Mol Genet Metab
; 113(1-2): 76-83, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087164
8.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Hum Mutat
; 34(11): 1449-57, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913485
9.
Congenital myasthenic syndromes and transient myasthenia gravis.
Ideggyogy Sz
; 66(5-6): 200-3, 2013 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23909021
10.
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
Front Neurol
; 14: 1292320, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38107630
11.
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Front Mol Biosci
; 10: 1279700, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38161385
12.
[Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy]. / Facioscapulohumeralis izomdisztrófiával asszociált allélok és a hipometiláció szerepe a beteg fenotípus kialakulásában.
Orv Hetil
; 152(39): 1576-85, 2011 Sep 25.
Artigo
em Húngaro
| MEDLINE | ID: mdl-21920844
13.
Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives.
Neuromuscul Disord
; 19(2): 108-12, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19084397
14.
A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern.
Diabetes Metab Res Rev
; 25(2): 127-35, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19116951
15.
[Quantitative analysis of the genes determining spinal muscular atrophy]. / A spinalis izomatrophiát meghatározó survival motoneuron gének kvantitatív analízise.
Ideggyogy Sz
; 62(11-12): 390-7, 2009 Nov 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-20025129
16.
Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family.
Horm Res Paediatr
; 92(5): 335-339, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31661700
17.
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Brain
; 130(Pt 6): 1497-506, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17439981
18.
[Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary]. / Herediter neuromuscularis betegségek szûrése molekuláris genetikai módszerekkel hazai Roma populációban.
Ideggyogy Sz
; 61(11-12): 426-30, 2008 Nov 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-19070320
19.
[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases]. / A dravet-szindróma klinikai es genetikai diagnosztikájáról husz esetünk kapcsán.
Ideggyogy Sz
; 61(11-12): 402-8, 2008 Nov 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-19070316
20.
[Carrier detection in families affected by Duchenne/Becker muscular dystrophy]. / Hordozóságszurés Duchenne-/Becker-izomdystrophiával érintett családokban.
Orv Hetil
; 148(51): 2403-9, 2007 Dec 23.
Artigo
em Húngaro
| MEDLINE | ID: mdl-18055393