Detalhe da pesquisa
1.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
Genet Med
; : 101144, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641994
2.
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
Genet Med
; 25(3): 100349, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36470574
3.
Survivorship Issues in Adult Patients With Histiocytic Neoplasms.
J Natl Compr Canc Netw
; 19(11): 1312-1318, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34781266
4.
Rehabilitation Interventions in the Multidisciplinary Management of Patients With Sclerotic Graft-Versus-Host Disease of the Skin and Fascia.
Arch Phys Med Rehabil
; 102(4): 776-788, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33347890
5.
Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2.
Mol Genet Metab
; 127(3): 191-199, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256856
6.
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
Am J Hum Genet
; 97(5): 715-25, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26544806
7.
Intrathecal 2-hydroxypropyl-ß-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
Lancet
; 390(10104): 1758-1768, 2017 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28803710
8.
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Genet Med
; 20(1): 14-23, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640243
9.
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Genet Med
; 19(2): 160-168, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27388694
10.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
medRxiv
; 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38313286
11.
Phenotypic expression of swallowing function in Niemann-Pick disease type C1.
Orphanet J Rare Dis
; 17(1): 342, 2022 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36064725
12.
Phenotype and course of Hutchinson-Gilford progeria syndrome.
N Engl J Med
; 358(6): 592-604, 2008 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-18256394
13.
A Prospective Evaluation of Swallowing and Speech in Patients with Neurofibromatosis Type 2.
J Neurol Surg B Skull Base
; 82(2): 244-250, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33777639
14.
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C.
Am J Med Genet B Neuropsychiatr Genet
; 153B(1): 132-40, 2010 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-19415691
15.
Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1.
JAMA Neurol
; 77(12): 1564-1568, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32897301
16.
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
Am J Med Genet A
; 143A(24): 3204-15, 2007 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18000976
17.
Adaptive significance of right hemisphere activation in aphasic language comprehension.
Neuropsychologia
; 51(7): 1248-59, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23566891
18.
Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial.
Lancet Neurol
; 10(2): 140-7, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21216197
19.
Long-term outcomes and toxicity of concurrent paclitaxel and radiotherapy for locally advanced head-and-neck cancer.
Int J Radiat Oncol Biol Phys
; 74(4): 1040-6, 2009 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19117692
20.
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.
Am J Med Genet A
; 125A(2): 145-51, 2004 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14981714