(Q57183349)

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24779634%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24779634%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

neuronal ceroid lipofuscinosis

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based on heuristic

inferred from title

Laura Canafoglia

1

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16 March 2020

2

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16 March 2020

Ludovico D'Incerti

5

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16 March 2020

Fabrizio Tagliavini

7

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16 March 2020

Samuel Berkovic

8

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16 March 2020

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Vidmer Scaioli

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16 March 2020

Davide Pareyson

4

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16 March 2020

Valeria Fugnanesi

6

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16 March 2020

Silvana Franceschetti

9

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16 March 2020

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29 April 2014

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16 March 2020

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16 March 2020

55

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16 March 2020

6

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16 March 2020

e56-9

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16 March 2020

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12632

21 January 2018

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12632

21 January 2018

Behavioral deficits and progressive neuropathology in progranulin-deficient mice: a mouse model of frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12632

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12632

21 January 2018

Jansky-Bielschowsky variant disease: CT, MRI, and SPECT findings.

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12632

21 January 2018

JNCL patients show marked brain volume alterations on longitudinal MRI in adolescence.

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12632

21 January 2018

Palinopsia in patients with migraine: a case-control study

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12632

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12632

21 January 2018

Diagnosis of the neuronal ceroid lipofuscinoses: an update

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12632

21 January 2018

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12632

21 January 2018

Identifiers

10.1111/EPI.12632

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16 March 2020

1 reference

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16 March 2020

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