(Q73927911)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

oculopharyngeal muscular dystrophy

7 November 2019

main subject

1 reference

H Porschke

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

W Kress

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

H Reichmann

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

H H Goebel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

T Grimm

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

publication date

1 October 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

volume

7 Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

page(s)

S57-62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Oculopharyngeal muscular dystrophy. An autopsied case from the French-Canadian kindred

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Changes in the pharyngeal and esophageal musculature in oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

PROGRESSIVE MUSCULAR DYSTROPHY WITH PTOSIS AND DYSPHAGIA

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

OCULAR MYOPATHY WITH DYSPHAGIA

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Nuclear inclusions in oculopharyngeal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Nuclear inclusions in oculopharyngeal dystrophy. An ultrastructural study of six cases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Oculopharyngeal muscular dystrophy. A case with abnormal mitochondria and "fingerprint" inclusions

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Muscle carnitine levels in neuromuscular disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900084-9

7 January 2021

10.1016/S0960-8966(97)00084-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9392018%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference