Detalhe da pesquisa
1.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
2.
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain
; 145(5): 1624-1631, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148383
3.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989426
4.
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Hum Mutat
; 42(3): 310-319, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33348459
5.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Am J Hum Genet
; 102(3): 460-467, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429571
6.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401461
7.
NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
Metab Brain Dis
; 36(7): 2169-2172, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34427841
8.
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Am J Hum Genet
; 99(4): 894-902, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616477
9.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272928
10.
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
J Hum Genet
; 63(4): 473-485, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29410512
11.
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
Metab Brain Dis
; 33(1): 191-199, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29116603
12.
Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis.
Pol J Pathol
; 69(3): 292-298, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30509056
13.
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
BMC Cancer
; 17(1): 239, 2017 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28376765
14.
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.
Neurol Neurochir Pol
; 51(2): 184-189, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28169007
15.
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
J Transl Med
; 14(1): 174, 2016 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27290639
16.
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.
Hum Genet
; 134(9): 951-66, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077851
17.
Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis.
Pol J Pathol
; 70(3): 224-225, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31820868
18.
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.
Am J Case Rep
; 25: e943118, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38656928
19.
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.
Nutrients
; 16(6)2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38542723
20.
The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.
Cancer Rep (Hoboken)
; 6(2): e1700, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36806726