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Expert Opinion on Medical Diagnostics Volume 1, 2007 - Issue 3
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Review

Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies

Amanda L Getty University of Rochester School of Medicine and Dentistry, Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, Box 645, Rochester, New York 14642, USA +1 585 506 1972; [email protected]
,
Paul G Rothberg University of Rochester School of Medicine and Dentistry, Department of Pathology and Laboratory Medicine, Rochester, New York 14642, USA
&
David A Pearce University of Rochester School of Medicine and Dentistry, Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, Box 645, Rochester, New York 14642, USA +1 585 506 1972; [email protected]; University of Rochester School of Medicine and Dentistry, Department of Biochemistry and Biophysics, Rochester, New York 14642, USA; University of Rochester School of Medicine and Dentistry, Department of Neurology, Rochester, New York 14642, USA
Pages 351-362 | Published online: 09 Nov 2007

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Natalie A Simpson, Elizabeth D Wheeler & David A Pearce. (2014) Screening, diagnosis and epidemiology of Batten disease. Expert Opinion on Orphan Drugs 2:9, pages 903-910.
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Mahmoud Bassal, Junling Liu, Wanda Jankowiak, Paul Saftig & Udo Bartsch. (2021) Rapid and Progressive Loss of Multiple Retinal Cell Types in Cathepsin D-Deficient Mice—An Animal Model of CLN10 Disease. Cells 10:3, pages 696.
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K.V. Rama Rao & T. Kielian. (2016) Astrocytes and lysosomal storage diseases. Neuroscience 323, pages 195-206.
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Marie T. Vanier, Catherine Caillaud & Thierry Levade. 2016. Inborn Metabolic Diseases. Inborn Metabolic Diseases 551 575 .
Kakulavarapu V. Rama Rao & Tammy Kielian. (2015) Neuron–astrocyte interactions in neurodegenerative diseases: Role of neuroinflammation. Clinical and Experimental Neuroimmunology 6:3, pages 245-263.
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Josef Finsterer, Claudia Stöllberger & Taemi Yoshida. (2015) Left ventricular hypertrabeculation/noncompaction in juvenile neuronal ceroid lipofuscinosis. Rinsho Shinkeigaku 55:3, pages 185-185.
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Rob U. OnyenwokeJay E. Brenman. (2016) Lysosomal Storage Diseases-Regulating Neurodegeneration. Journal of Experimental Neuroscience 9s2, pages JEN.S25475.
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