Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C-Reference-Cited by-同舟云学术

Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

Published:2016-09-01 Issue:1 Volume:11 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Koens L. H.,Kuiper A.,Coenen M. A.,Elting J. W. J.,de Vries J. J.,Engelen M.,Koelman J. H. T. M.,van Spronsen F. J.,Spikman J. M.,de Koning T. J.,Tijssen M. A. J.

Funder

Fonds NutsOhra

Prinses Beatrix Spierfonds

Jacques und Gloria Gossweiler-Stiftung

Fonds Psychische Gezondheid

Stichting wetenschapsfonds dystonievereniging

Phelps stichting

Stichting Vrienden Beatrix Kinderziekenhuis

Actelion Pharmaceuticals

Merz

Ipsen

Medtronic

Allergan Farmaceutics

Metakids

ZonMw

Stofwisselkracht

COST dystonia

Merck-Serono

Nutricia Research Foundation

Sobi

ESPKU

Alexion Pharmaceuticals

ARLA

BioMarin Pharmaceutical

Vitaflo

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-016-0502-3

Reference32 articles.

1. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16. 1172-5-16.

2. Imrie J, Heptinstall L, Knight S, Strong K. Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. BMC Neurol. 2015;15(1):257. 015-0511-1.

3. Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013;8:12. 1172-8-12.

4. Anheim M, Lagha-Boukbiza O, Fleury-Lesaunier MC, Valenti-Hirsch MP, Hirsch E, Gervais-Bernard H, et al. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease. J Neurol. 2014;261(1):174–9.

5. Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, et al. The adult form of Niemann-Pick disease type C. Brain. 2007;130(Pt 1):120–33.

Cited by 30 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant;Journal of Rare Diseases;2024-07-08

2. Swallowing characterization of adult-onset Niemann-Pick, type C1 patients;Orphanet Journal of Rare Diseases;2024-06-11

3. Negative Myoclonus: Neurophysiological Study and Clinical Impact in Progressive Myoclonus Ataxia;Movement Disorders;2024-02-22

4. Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature;BMC Infectious Diseases;2024-01-30

5. Rethinking the neurophysiological concept of cortical myoclonus;Clinical Neurophysiology;2023-12