Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Clinical, ultrastructural, and molecular studies in a patient with Kufs disease.

Literature DB >> 24277206

Clinical, ultrastructural, and molecular studies in a patient with Kufs disease.

Francesca Moro¹, Floriana Gismondi, Francesco Pezzini, Filippo M Santorelli, Alessandro Simonati.

Abstract

Entities: Disease Species

Mesh：

Substances：

Year: 2013 PMID： 24277206 DOI： 10.1007/s10072-013-1587-2

Source DB: PubMed Journal: Neurol Sci ISSN： 1590-1874 Impact factor: 3.307

Keyword Cloud
References

× No keyword cloud information.

7 in total

1. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

Authors: Ruth E Williams; Sara E Mole
Journal: Neurology Date: 2012-07-10 Impact factor: 9.910

2. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Authors: Lenka Nosková; Viktor Stránecký; Hana Hartmannová; Anna Přistoupilová; Veronika Barešová; Robert Ivánek; Helena Hůlková; Helena Jahnová; Julie van der Zee; John F Staropoli; Katherine B Sims; Jaana Tyynelä; Christine Van Broeckhoven; Peter C G Nijssen; Sara E Mole; Milan Elleder; Stanislav Kmoch
Journal: Am J Hum Genet Date: 2011-08-04 Impact factor: 11.025

Review 3. Human pathology in NCL.

Authors: Glenn W Anderson; Hans H Goebel; Alessandro Simonati
Journal: Biochim Biophys Acta Date: 2012-11-29

Review 4. Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.

Authors: Susan L Cotman; Amel Karaa; John F Staropoli; Katherine B Sims
Journal: Curr Neurol Neurosci Rep Date: 2013-08 Impact factor: 5.081

Clinical, ultrastructural, and molecular studies in a patient with Kufs disease.

1. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

2. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Review 3. Human pathology in NCL.

Review 4. Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.

Review 5. Kufs' disease: a critical reappraisal.

6. The problematic issue of Kufs disease diagnosis as performed on rectal biopsies: a case report.

7. In vivo diagnosis of Kufs' disease by extracerebral biopsies.