(Q40156522)

reason for preferred rank

18 September 2017

title

The cherry-red spot-myoclonus syndrome (English)

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

10 January 2023

The cherry-red spot--myoclonus syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A208452

10 January 2023

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

10 January 2023

author name string

Rapin I

1

1 reference

18 September 2017

Goldfischer S

2

1 reference

18 September 2017

Katzman R

3

1 reference

18 September 2017

Engel J Jr

4

1 reference

18 September 2017

O'Brien JS

5

1 reference

18 September 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=208452

10 January 2023

publication date

1 March 1978

1 reference

full work available at URL

18 September 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.410030309

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

https://onlinelibrary.wiley.com/doi/full/10.1002/ana.410030309

10 January 2023

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

10 January 2023

1 reference

18 September 2017

volume

3

1 reference

18 September 2017

issue

3

1 reference

18 September 2017

page(s)

234-242

1 reference

Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver

18 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FANA.410030309

Ocular lesions related to disturbances in fat metabolism

21 January 2018

1

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts

10 January 2023

5

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

Electrophysiological studies in two patients with cherry red spot--myoclonus syndrome

10 January 2023

7

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

Bollettino della Societa italiana di biologia sperimentale

10 January 2023

10

46

455

Ghetti

1970

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

A case of amaurotic family idiocy with lipid storage disease of bone

10 January 2023

11

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

The demonstration of acid hydrolase, thermostable reduced diphosphopyridine nucleotide tetrazolium reductase and peroxidase activities in human lipofuscin pigment granules

10 January 2023

13

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

Neurophysiological Studies in Batten's Disease

10 January 2023

17

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

10 January 2023

18

28

542

Guazzi

1973

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

Clinical, electroencephalographical and neuropharmacological studies in syndromes of progressive myoclonus epilepsy.

10 January 2023

20

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

THE CYTOLOGIC DEMONSTRATION OF β-GLUCURONIDASE EMPLOYING NAPHTHOL AS-BI GLUCURONIDE AND HEXAZONIUM PARAROSANILIN; A PRELIMINARY REPORT

10 January 2023

21

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria

10 January 2023

26

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosis

10 January 2023

31

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis

10 January 2023

32

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome

10 January 2023

35

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

Identification of retinoyl complexes as the autofluorescent component of the neuronal storage material in Batten disease

10 January 2023

37

1 reference

https://api.crossref.org/works/10.1002/ANA.410030309

10 January 2023

Identifiers

1 reference

18 September 2017

1 reference