Brain imaging in Kufs disease type B: case reports. (Q30978461)

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18 February 2020

case report

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title

Brain imaging in Kufs disease type B: case reports (English)

1 reference

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18 February 2020

2

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Filippo Maria Santorelli

series ordinal

3

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5

Francesco Pierelli

1 reference

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18 February 2020

author name string

Roberto Di Fabio

series ordinal

1

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18 February 2020

Liliana Pestillo

series ordinal

4

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18 February 2020

publication date

4 July 2015

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18 February 2020

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volume

15

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page(s)

102

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Creative Commons Attribution 4.0 International

18 February 2020

copyright license

start time

4 July 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

1 reference

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Human pathology in NCL.

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

28 July 2018

1 reference

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You say lipofuscin, we say ceroid: defining autofluorescent storage material

28 July 2018

1 reference

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis.

28 July 2018

1 reference

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Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

21 January 2018

1 reference

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Novel neuroimaging finding in palmitoyl protein thioesterase-1-related neuronal ceroid lipofuscinosis

21 January 2018

1 reference

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Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases

21 January 2018

1 reference

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Magnetic resonance imaging in neuronal ceroid lipofuscinosis and its subtypes

21 January 2018

1 reference

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Early-onset dementia with prolonged occipital seizures: an atypical case of Kufs disease.

21 January 2018

1 reference

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Neuronal ceroid lipofuscinosis with early-onset dementia and periventricular leukoencephalopathy in which a skin biopsy was diagnostically useful

21 January 2018

1 reference

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Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

21 January 2018

1 reference

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Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26141065

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26141065

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12883-015-0357-6

1 reference

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Dimensions Publication ID

18 February 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s12883-015-0357-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26141065%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

PubMed publication ID

26141065

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26141065%20AND%20SRC:MED&resulttype=core&format=json