(Q50500999)

14 March 2018

title

Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation. (English)

1 reference

14 March 2018

0 references

Sudarsky L

1

1 reference

14 March 2018

Plotkin GM

series ordinal

2

1 reference

14 March 2018

Logigian EL

series ordinal

3

1 reference

14 March 2018

Johns DR

series ordinal

4

1 reference

14 March 2018

language of work or name

English

0 references

publication date

1 May 1999

1 reference

14 March 2018

published in

Movement Disorders

1 reference

14 March 2018

volume

14

1 reference

14 March 2018

issue

3

1 reference

14 March 2018

page(s)

488-491

1 reference

14 March 2018

Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Energy metabolism defects in Huntington's disease and effects of coenzyme Q10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

The molecular genetics of the dystonias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Progressive myoclonus epilepsies: specific causes and diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Evidence for mitochondrial dysfunction in Parkinson's disease--a critical appraisal

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Maternal inheritance in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Disorders of movement in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Familial dystonia and visual failure with striatal CT lucencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Partial cytochrome b deficiency and generalized dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Electron transfer complex I defect in idiopathic dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

MELAS: clinical features, biochemistry, and molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Parkinson's disease and the electron transport chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Frataxin gene of Friedreich's ataxia is targeted to mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Leber's disease and dystonia: a mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Subacute Necrotizing Encephalomyelopathy (Leigh's Disease): a Consideration of Clinical Features and Etiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Complex I function in familial and sporadic dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199905%2914%3A3%3C488%3A%3AAID-MDS1017%3E3.0.CO%3B2-4

10.1002/1531-8257(199905)14:3<488::AID-MDS1017>3.0.CO;2-4

21 January 2018

Identifiers

DOI

1 reference

14 March 2018

PubMed ID

10348475

1 reference

14 March 2018