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1.
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.
Eur J Neurol
; 28(9): 3040-3050, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34096670
2.
Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison.
Cerebellum
; 19(2): 243-251, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-31933160
3.
A recessive ataxia diagnosis algorithm for the next generation sequencing era.
Ann Neurol
; 82(6): 892-899, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-29059497
4.
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.
Mol Genet Metab
; 120(3): 180-189, 2017 03.
Article
in English
| MEDLINE | ID: mdl-27993458
5.
Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions.
Mol Genet Metab
; 117(2): 172-8, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26674302
6.
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Mol Genet Metab
; 118(4): 244-54, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27339554
7.
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).
BMC Pediatr
; 16: 107, 2016 07 22.
Article
in English
| MEDLINE | ID: mdl-27449637
8.
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.
J Inherit Metab Dis
; 37(1): 93-101, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-23793527
9.
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.
Orphanet J Rare Dis
; 14(1): 32, 2019 01 08.
Article
in English
| MEDLINE | ID: mdl-30732631
10.
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.
Orphanet J Rare Dis
; 14(1): 161, 2019 07 02.
Article
in English
| MEDLINE | ID: mdl-31266511
11.
Beneficial effect of N-acetyl-DL-leucine on cognitive function, emotional well-being and QoL in a mentally healthy elderly person.
J Neurol
; 270(4): 2317-2319, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36527488
12.
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Curr Med Res Opin
; 33(5): 877-890, 2017 May.
Article
in English
| MEDLINE | ID: mdl-28276873
13.
Tissue engineering of functional trileaflet heart valves from human marrow stromal cells.
Circulation
; 106(12 Suppl 1): I143-50, 2002 Sep 24.
Article
in English
| MEDLINE | ID: mdl-12354724
14.
Recovery of hepatocellular ATP and "pericentral apoptosis" after hemorrhage and resuscitation.
FASEB J
; 17(9): 993-1002, 2003 Jun.
Article
in English
| MEDLINE | ID: mdl-12773482
15.
A new approach to completely autologous cardiovascular tissue in humans.
ASAIO J
; 48(3): 234-8, 2002.
Article
in English
| MEDLINE | ID: mdl-12058995
16.
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.
PLoS One
; 9(12): e114669, 2014.
Article
in English
| MEDLINE | ID: mdl-25479233
17.
Niemann-Pick disease type C symptomatology: an expert-based clinical description.
Orphanet J Rare Dis
; 8: 166, 2013 Oct 17.
Article
in English
| MEDLINE | ID: mdl-24135395
18.
Ziprasidone versus olanzapine, risperidone or quetiapine in patients with chronic schizophrenia: a 12-week open-label, multicentre clinical trial.
World J Biol Psychiatry
; 10(4 Pt 3): 710-8, 2009.
Article
in English
| MEDLINE | ID: mdl-18803070
19.
Absence of inducible retroviruses from synovial fibroblasts and synovial fluid cells of patients with rheumatoid arthritis.
Arthritis Rheum
; 46(10): 2811-3, 2002 Oct.
Article
in English
| MEDLINE | ID: mdl-12384943
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