Detalhe da pesquisa
1.
NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.
Brain
; 145(11): 3872-3885, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35136953
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy.
J Pediatr Orthop
; 38(10): e610-e617, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30134351
10.
Hypotonia and Failure to Thrive in an 8-month-old Infant.
Pediatr Rev
; 44(11): 644-649, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907420
11.
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Ann Clin Transl Neurol
; 10(11): 1972-1984, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632133
12.
Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.
PLoS One
; 13(9): e0202104, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30188899
13.
Chronic Meningitis Due to Prototheca zopfii in an Adolescent Girl.
J Pediatric Infect Dis Soc
; 10(3): 370-372, 2021 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32415770