Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature-Reference-Cited by-同舟云学术

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Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature

Published:2012-05-08 Issue:10 Volume:19 Page:1331-1336
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Ferlazzo E.¹²,Gasparini S.¹²,Pasquinelli G.³,Labate A.¹,Gambardella A.¹,Sofia V.⁴,Cianci V.¹²,Branca D.²,Quattrone A.¹,Aguglia U.¹²

Affiliation:

1. Institute of Neurology; Magna Graecia University; Catanzaro Italy

2. Regional Epilepsy Centre; “Bianchi-Melacrino-Morelli” Hospital; Reggio Calabria Italy

3. Department of Hematology, Oncology and Clinical Pathology, Policlinico S. Orsola; University of Bologna; Bologna Italy

4. Institute of Neurology; University of Catania; Catania Italy

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-1331.2012.03748.x/fullpdf

Reference22 articles.

1. Current state of clinical and morphological features in human NCL;Goebel;Brain Pathol,2004

2. Kufs' disease: a critical reappraisal;Berkovic;Brain,1988

3. Kufs' disease presenting as late onset epilepsia partialis continua;Gambardella;Neurology,1998

4. 53-year-old man with rapid cognitive decline;Robertson;Brain Pathol,2008

5. Early-onset dementia with prolonged occipital seizures. An atypical case of Kufs disease;Zini;Neurology,2008

Cited by 5 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. Kufs disease due to mutation ofCLN6: clinical, pathological and molecular genetic features;Brain;2018-12-15

2. Novel compound heterozygous mutations causing Kufs disease type B;International Journal of Neuroscience;2017-11-22

3. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease);Neurology;2016-07-13

4. Brain imaging in Kufs disease type B: case reports;BMC Neurology;2015-07-04

5. Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated withCLN6mutations;Neurology;2015-06-26

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