Detalhe da pesquisa
1.
T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood.
J Inherit Metab Dis
; 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499449
2.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
J Med Genet
; 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37940383
3.
Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.
N Engl J Med
; 383(16): 1556-1563, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32786181
4.
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.
Mol Genet Metab
; 138(2): 106967, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709533
5.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980381
6.
The experiences and support needs of siblings of people with mucopolysaccharidosis.
Am J Med Genet A
; 185(11): 3418-3426, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34410034
7.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906214
8.
Case 10-2022: A 78-Year-Old Man with Marked Ventricular Wall Thickening.
N Engl J Med
; 386(13): 1266-1276, 2022 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353965
9.
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.
J Inherit Metab Dis
; 43(4): 800-818, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32030781
10.
Diagnosis of 'possible' mitochondrial disease: an existential crisis.
J Med Genet
; 56(3): 123-130, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30683676
11.
Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States.
Mol Genet Metab
; 127(2): 122-127, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31138493
12.
Relapsing remitting multiple sclerosis in progressive external ophthalmoplegia: A report of two cases.
Mult Scler
; 25(6): 879-882, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30557092
13.
Case 35-2020: A 59-Year-Old Woman with Type 1 Diabetes Mellitus and Obtundation.
N Engl J Med
; 383(20): 1974-1983, 2020 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33176089
14.
Case 21-2019: A 31-Year-Old Woman with Vision Loss.
N Engl J Med
; 381(2): 164-172, 2019 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31291520
15.
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Genet Med
; 19(12)2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28749475
16.
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
J Inherit Metab Dis
; 40(3): 403-414, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28303425
17.
Case 7-2018: A 25-Year-Old Man with New-Onset Seizures.
N Engl J Med
; 378(10): 941-948, 2018 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29514022
18.
Mitochondrial disease patients' perception of dietary supplements' use.
Mol Genet Metab
; 119(1-2): 100-8, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27444792
19.
Solid organ transplantation in primary mitochondrial disease: Proceed with caution.
Mol Genet Metab
; 118(3): 178-184, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27312126
20.
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.
Mol Genet Metab
; 119(3): 187-206, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27665271