Detalhe da pesquisa
1.
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Hum Mol Genet
; 31(5): 748-760, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559225
2.
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
Eur J Neurol
; 29(7): 2156-2161, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253317
3.
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Clin Genet
; 99(3): 449-456, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340101
4.
Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients.
J Synchrotron Radiat
; 27(Pt 1): 185-198, 2020 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31868751
5.
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Clin Genet
; 97(3): 426-436, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721179
6.
Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain.
Muscle Nerve
; 61(2): 173-181, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749205
7.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Am J Hum Genet
; 99(1): 217-27, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374774
8.
Neonatal lactic acidosis explained by LARS2 defect.
Pediatr Res
; 93(4): 740-743, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35750896
9.
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.
Hum Mol Genet
; 24(5): 1420-31, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25398950
10.
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Am J Hum Genet
; 95(6): 708-20, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434004
11.
New insights into the phenotype of FARS2 deficiency.
Mol Genet Metab
; 122(4): 172-181, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29126765
12.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Hum Mutat
; 37(7): 653-60, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931382
13.
Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation.
Biochim Biophys Acta
; 1853(2): 285-98, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25450972
14.
A de novo mutation in the ß-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Am J Hum Genet
; 92(5): 767-73, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23582646
15.
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
Mol Genet Metab
; 118(3): 185-189, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27233227
16.
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Nat Genet
; 39(4): 534-9, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17384640
17.
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
Hum Mutat
; 36(2): 222-31, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25385316
18.
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
Hum Mol Genet
; 22(13): 2590-602, 2013 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23462291
19.
Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme q.
Anesthesiology
; 122(2): 343-52, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25296107
20.
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
J Inherit Metab Dis
; 38(6): 1147-53, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25971455