Detalhe da pesquisa
1.
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
Mol Genet Metab
; 120(1-2): 47-56, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28040394
2.
Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.
Mol Genet Metab
; 120(1-2): 1-7, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27866832
3.
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
Am J Hematol
; 92(9): 929-939, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28569047
4.
Gaucher disease: Basic and translational science needs for more complete therapy and management.
Mol Genet Metab
; 132(2): 59-75, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33419694
5.
Skeletal Muscle in Healthy Subjects versus Those with GNE-Related Myopathy: Evaluation with Shear-Wave US--A Pilot Study.
Radiology
; 277(2): 546-54, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26035587
6.
GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization.
Mol Genet Metab
; 111(4): 513-21, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24581871
7.
Juvenile-onset motor neuron disease caused by novel mutations in ß-hexosaminidase.
Mol Genet Metab
; 108(1): 65-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23158871
8.
The enigma of the E326K mutation in acid ß-glucocerebrosidase.
Mol Genet Metab
; 104(1-2): 35-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21831682
9.
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
Mol Genet Metab
; 102(1): 6-12, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20926324
10.
Biosensors for brain trauma and dual laser doppler flowmetry: enoxaparin simultaneously reduces stroke-induced dopamine and blood flow while enhancing serotonin and blood flow in motor neurons of brain, in vivo.
Sensors (Basel)
; 11(1): 138-61, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22346571
11.
Tay-Sachs disease in Jacob sheep.
Mol Genet Metab
; 101(4): 357-63, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20817517
12.
Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment.
Genet Med
; 11(6): 425-33, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19346952
13.
Acute confusional migraine may be a presenting feature of CADASIL.
Headache
; 49(4): 590-6, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19245392
14.
Newborn screening for Krabbe disease: the New York State model.
Pediatr Neurol
; 40(4): 245-52; discussion 253-5, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19302934
15.
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Eur J Hum Genet
; 16(8): 875-9, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18301443
16.
Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy.
J Clin Neuromuscul Dis
; 19(1): 19-26, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28827485
17.
Leukodystrophies: clinical and genetic aspects.
Top Magn Reson Imaging
; 17(4): 219-42, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17414998
18.
Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.
J Neurol
; 263(2): 257-262, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26566914
19.
An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment.
Clin Ther
; 27(8): 1215-27, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16199246
20.
MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis.
AJNR Am J Neuroradiol
; 26(8): 2037-42, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16155156