(Q36604129)

15 August 2017

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy (English)

1 reference

15 August 2017

0 references

8

1 reference

15 August 2017

Stefano Sartori

6

0 references

francesco cardona

Francesco Cardona

3

0 references

Agnese Suppiej

Agnese Suppiej

7

0 references

Barbara Garavaglia

Barbara Garavaglia

2

0 references

Roberta Battini

Roberta Battini

10

0 references

Filippo Maria Santorelli

Filippo Maria Santorelli

1

1 reference

ORCID Public Data File 2021

Bernardo Dalla Bernardina

5

Bernardo Dalla Bernardina

1 reference

15 August 2017

Nardo Nardocci

4

1 reference

15 August 2017

Dianela Claps

9

1 reference

15 August 2017

Roberta Biancheri

11

1 reference

15 August 2017

Mirella Filocamo

12

1 reference

15 August 2017

Francesco Pezzini

13

1 reference

15 August 2017

Alessandro Simonati

14

1 reference

15 August 2017

2 February 2013

1 reference

Orphanet Journal of Rare Diseases

15 August 2017

1 reference

15 August 2017

8

1 reference

15 August 2017

19

1 reference

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Towards understanding the neuronal ceroid lipofuscinoses.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Occurrence of and mortality from childhood neuronal ceroid lipofuscinoses in norway

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Molecular genetics of the NCLs -- status and perspectives

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Thirty years of Batten disease research: present status and future goals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Spectrum of mutations in the Batten disease gene, CLN3

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570295

The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland

28 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-19

The epidemiology of progressive intellectual and neurological deterioration in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-19

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-19

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-19

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-19

Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis in the Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-19

Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures

21 January 2018

1 reference

12 December 2020

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

1 reference

12 December 2020

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children

1 reference

12 December 2020

Neuronal ceroid lipofuscinoses: pathological features of bioptic specimens from 28 patients

1 reference

12 December 2020

The neuronal ceroid lipofuscinoses in British Columbia: a clinical epidemiologic and ultrastructural study

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-19

1 reference

Dimensions Publication ID

15 August 2017

0 references

1 reference

15 August 2017

PubMed publication ID

23374165

1 reference