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Literature DB >> 15596783

Heterozygous Niemann-Pick disease type C presenting with tremor.

Keith A Josephs¹, Joseph Y Matsumoto, Noralane M Lindor.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2004 PMID： 15596783 DOI： 10.1212/01.wnl.0000145710.25588.2f

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

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23 in total

1. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.

Authors: Mathieu Anheim; Ouhaïd Lagha-Boukbiza; Marie-Céline Fleury-Lesaunier; Maria-Paola Valenti-Hirsch; Edouard Hirsch; Hélène Gervais-Bernard; Emmanuel Broussolle; Stéphane Thobois; Marie T Vanier; Philippe Latour; Christine Tranchant
Journal: J Neurol Date: 2013-11-01 Impact factor: 4.849

Review 2. Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.

Authors: Susanne A Schneider; Sabina Tahirovic; John Hardy; Michael Strupp; Tatiana Bremova-Ertl
Journal: J Neurol Date: 2019-11-07 Impact factor: 4.849

Review 3. Astrocytes and lysosomal storage diseases.

Authors: K V Rama Rao; T Kielian
Journal: Neuroscience Date: 2015-05-30 Impact factor: 3.590

4. Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C.

Authors: Alberto Benussi; Maria Sofia Cotelli; Maura Cosseddu; Valeria Bertasi; Marinella Turla; Ettore Salsano; Andrea Dardis; Alessandro Padovani; Barbara Borroni
Journal: JIMD Rep Date: 2017-01-17

Heterozygous Niemann-Pick disease type C presenting with tremor.

1. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.

Review 2. Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.

Review 3. Astrocytes and lysosomal storage diseases.

4. Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C.

Review 5. The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity.

6. Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes.

Review 7. Genetic convergence of Parkinson's disease and lysosomal storage disorders.

8. Neurological Dysfunction in Early Maturity of a Model for Niemann-Pick C1 Carrier Status.

Review 9. Current concepts in the neuropathogenesis of mucolipidosis type IV.

10. Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.