(Q37984080)

26 August 2017

Cognitive dysfunction in mitochondrial disorders (English)

1 reference

26 August 2017

1 reference

cognitive dysfunction

1 reference

J Finsterer

1

1 reference

PubMed ID

22335339

26 August 2017

language of work or name

English

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publication date

15 February 2012

1 reference

Acta Neurologica Scandinavica

26 August 2017

1 reference

26 August 2017

126

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26 August 2017

1

1 reference

26 August 2017

1-11

1 reference

A neurological perspective on mitochondrial disease.

26 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Phenotype variability in 130 adult patients with respiratory chain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Central nervous system manifestations of mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Brain anomalies in maternally inherited diabetes and deafness syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioral disturbances: case analysis with literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

MELAS: a neuropsychological and radiological follow-up study. Mitochondrial encephalomyopathy, lactic acidosis and stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Adult-onset MELAS presenting as herpes encephalitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

MELAS: clinical phenotype and morphological brain abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Otopathology in Mohr-Tranebjaerg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Psychiatric symptoms in a patient with Wolfram syndrome caused by a combination of thalamic deficit and endocrinological pathologies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Clinical and neuropathological findings in patients with TACO1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Drugs interfering with mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Neuro-oxidative-nitrosative stress in sepsis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Cerebral lactic acidosis correlates with neurological impairment in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

[Mutism and acute behavioral disorders revealing MELAS syndrome].

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

MERRF: Clinical features, muscle biopsy and molecular genetics in Brazilian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Heterogeneous patterns of tissue injury in NARP syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2012.01649.X

10.1111/J.1600-0404.2012.01649.X

21 January 2018

Identifiers

DOI

1 reference

26 August 2017

1 reference

PubMed ID

22335339