(Q34265543)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512967%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

title

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31 (English)

1 reference

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19 December 2019

1 reference

6

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19 December 2019

author name string

Lagier-Tourenne C

1

1 reference

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19 December 2019

Tranebaerg L

2

1 reference

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19 December 2019

Chaigne D

3

1 reference

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19 December 2019

Gribaa M

4

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19 December 2019

Dollfus H

5

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19 December 2019

Bétard C

7

1 reference

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19 December 2019

Warter JM

8

1 reference

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19 December 2019

Koenig M

9

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19 December 2019

publication date

1 October 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512967%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

19 December 2019

published in

1 reference

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19 December 2019

volume

11

1 reference

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19 December 2019

issue

10

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19 December 2019

page(s)

770-778

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201068

19 December 2019

exact match

0 references

cites work

Skeletal findings in Marinesco-Sjögren syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Muscle pathology in Marinesco-Sjögren syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Rapid cataract formation in Marinesco-Sjögren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Sensorimotor neuropathy in a patient with Marinesco-Sjögren syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

The Marinesco-Sjögren syndrome examined by computed tomography, magnetic resonance, and 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

A general method for the detection of large CAG repeat expansions by fluorescent PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Neuronal degeneration and mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

Myopathy in Marinesco-Sjogren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Myopathy in Marinesco-Sjögren syndrome: an ultrastructural study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Apoptotic nuclear degeneration in Marinesco-Sjögren syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Peripheral neuropathy in Marinesco-Sjögren syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Marinesco-Sjogren syndrome in a Bedouin family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Marinesco Sjögren syndrome with rhabdomyolysis. A new subtype of the disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sj�gren syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Marinesco-Sjögren syndrome: clinical and magnetic resonance imaging features in three children.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Congenital muscular dystrophy in Marinesco-Sjögren syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Marinesco-Sjögren syndrome: evidence for a lysosomal storage disorder

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Familial congenital muscular dystrophy with gonadal dysgenesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

MARINESCO-SJOEGREN SYNDROME: SPINOCEREBELLAR ATAXIA, CONGENITAL CATARACT, SOMATIC AND MENTAL RETARDATION.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Chance concurrence, pleiotropism or linkage?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Myopathy in Marinesco-Sjögren syndrome: an electrophysiological study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Mitochondrial Diseases and Myopathies: A Series of Muscle Biopsy Specimens with Ultrastructural Changes in the Mitochondria

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201068

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201068

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512967%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

1 reference