Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). (Q37159478)

18 August 2017

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). (English)

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neuronal ceroid lipofuscinosis

18 August 2017

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4

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10 June 2020

Michael S. Hildebrand

8

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10 June 2020

Ivana Jedličková

15

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10 June 2020

Anna Přistoupilová

16

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10 June 2020

Sara E. Mole

17

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10 June 2020

14

Patrick Cossette

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10 June 2020

1

Samuel F Berkovic

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10 June 2020

10

Susan L Cotman

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10 June 2020

author name string

John F Staropoli

2

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10 June 2020

Stirling Carpenter

3

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10 June 2020

Stanislav Kmoch

5

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10 June 2020

Glenn W Anderson

6

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10 June 2020

John A Damiano

7

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10 June 2020

Katherine B Sims

9

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10 June 2020

Melanie Bahlo

11

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10 June 2020

Katherine R Smith

12

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10 June 2020

Maxime Cadieux-Dion

13

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10 June 2020

ANCL Gene Discovery Consortium

18

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10 June 2020

language of work or name

English

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publication date

13 July 2016

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18 August 2017

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10 June 2020

volume

87

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10 June 2020

issue

6

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10 June 2020

page(s)

579-584

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Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

10 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

6 September 2017

NCL disease mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

6 September 2017

Human pathology in NCL.

1 reference

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Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

6 September 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Neuroleptic malignant syndrome in Kufs' disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Familial Kufs' disease presenting as a progressive myoclonic epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Adult neuronal ceroid-lipofuscinosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Kufs' disease: a critical reappraisal

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

The neuronal ceroid-lipofuscinoses. Recent advances.

14 September 2017

1 reference

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A dominant form of neuronal ceroid-lipofuscinosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

The problematic issue of Kufs disease diagnosis as performed on rectal biopsies: a case report

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4977374

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

3 September 2018

1 reference

12 December 2020

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

1 reference

12 December 2020

Morphological diagnosis and misdiagnosis in Batten-Kufs disease

1 reference

12 December 2020

Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy

1 reference

12 December 2020

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

1 reference

12 December 2020

10.1212/WNL.0000000000002943

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412140%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

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10 June 2020

PubMed publication ID

27412140

1 reference