Detalhe da pesquisa
1.
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
Mol Cell
; 82(1): 90-105.e13, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34942119
2.
Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants.
Hum Mol Genet
; 32(24): 3323-3341, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37676252
3.
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Am J Hum Genet
; 107(4): 763-777, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32937143
4.
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Am J Med Genet A
; 188(7): 2119-2128, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35442562
5.
Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy.
Muscle Nerve
; 65(1): 51-59, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34606118
6.
Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
BMC Cardiovasc Disord
; 22(1): 109, 2022 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35300601
7.
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Hum Mol Genet
; 28(4): 525-538, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304524
8.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet
; 103(5): 794-807, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401460
9.
Metabolic Control and "Ideal" Outcomes in Liver Transplantation for Maple Syrup Urine Disease.
J Pediatr
; 237: 59-64.e1, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34153280
10.
Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier.
Hepatology
; 71(6): 1923-1939, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31553814
11.
TNNT1 nemaline myopathy: natural history and therapeutic frontier.
Hum Mol Genet
; 27(18): 3272-3282, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29931346
12.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Am J Hum Genet
; 101(6): 985-994, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198724
13.
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.
Mol Genet Metab
; 131(3): 316-324, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33127324
14.
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Mol Genet Metab
; 131(3): 325-340, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33069577
15.
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Mol Genet Metab
; 129(3): 193-206, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31980395
16.
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Ann Neurol
; 86(6): 899-912, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600826
17.
Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives.
J Gastroenterol Hepatol
; 35(4): 530-543, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495946
18.
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
Am J Hum Genet
; 99(5): 1117-1129, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773430
19.
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Mol Genet Metab
; 126(4): 475-488, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30691927
20.
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Am J Hum Genet
; 96(1): 121-35, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574826