Molecular genetics of the NCLs — status and perspectives-Reference-Cited by-同舟云学术

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Molecular genetics of the NCLs — status and perspectives

Published:2006-10 Issue:10 Volume:1762 Page:857-864
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Siintola Eija,Lehesjoki Anna-Elina,Mole Sara E

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference97 articles.

1. Neuronal ceroid-lipofuscinoses in childhood;Santavuori;Brain Dev.,1988

2. The neuronal ceroid-lipofuscinoses;Haltia;J. Neuropathol. Exp. Neurol.,2003

3. Batten disease: past, present, and future;Rider;Am. J. Med. Genet., Suppl.,1988

4. Beretning om et maerkeligt sygdomstilfoelde hos fire sodskende i naerheden af Roraas;Stengel;Eyr. et. medicinsk. Tidskrift.,1826

5. Cerebral degeneration with symmetrical changes in the maculae in two members of a family;Batten;Trans. Ophthalmol. Soc. U. K.,1903

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1. Case Report: Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2;Internal Medicine;2024

2. Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus;Molecular Genetics and Metabolism Reports;2023-12

3. Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes;Investigative Opthalmology & Visual Science;2023-03-13

4. A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses;Acta Neurologica Belgica;2021-03-30

5. Lysosomal Storage Disorders;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

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