Cerebral Manifestations of Mitochondrial Disorders (Q47640125)

4 February 2018

title

Cerebral Manifestations of Mitochondrial Disorders (English)

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4 February 2018

author name string

Josef Finsterer

series ordinal

1

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4 February 2018

Elmano Henrique Torres de Carvalho

series ordinal

2

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4 February 2018

publication date

1 November 2017

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4 February 2018

Canadian Journal of Neurological Sciences

published in

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4 February 2018

volume

44

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4 February 2018

issue

6

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4 February 2018

page(s)

654-663

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4 February 2018

Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.

cites work

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https://api.crossref.org/works/10.1017/CJN.2017.211

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

21 January 2018

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https://api.crossref.org/works/10.1017/CJN.2017.211

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

21 January 2018

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https://api.crossref.org/works/10.1017/CJN.2017.211

Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art.

21 January 2018

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https://api.crossref.org/works/10.1017/CJN.2017.211

Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Parkinson's syndrome and Parkinson's disease in mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Pontocerebellar Hypoplasia Type 1: New Leads for an Earlier Diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Acute auditory agnosia as the presenting hearing disorder in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Sleep disturbances in chronic progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mitochondrial pathology in progressive cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Treatment of central nervous system manifestations in mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

FDG-PET imaging in the investigation of homonymous hemianopia in a patient with MELAS syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

FDG-PET study of patients with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Symmetric basal ganglia calcification in a 9-year-old child with MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

A study of familial MELAS: evaluation of A3243G mutation, clinical phenotype, and magnetic resonance spectroscopy-monitored progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Response to sumatriptan in headache of MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mitochondrial vasculopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Prevalence of migraine in persons with the 3243A>G mutation in mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Ketogenic diet in 3 cases of childhood refractory status epilepticus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Anesthetic management of a pediatric patient with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

POLG1 Arg953Cys mutation: Expanded phenotype and recessive inheritance in a Brazilian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Leber hereditary optic neuropathy with chorea and dementia resembling Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

MELAS with diffuse degeneration of the cerebral white matter: report of an autopsy case

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

The neuroimaging of Leigh syndrome: case series and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Seizure semiology and EEG findings in mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mitochondrial disorders and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mitochondrial epilepsy in pediatric and adult patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Therapeutic strategies for mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Heterogeneous patterns of tissue injury in NARP syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Transient ischemic attack-like episodes without stroke-like lesions in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Neurological picture. Cortical susceptibility-weighted imaging hypointensity after stroke-like episode in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Diffusion and Perfusion Characteristics of MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episode) in Thirteen Patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Kearns Sayre Syndrome--case report with review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mitochondrial disorders, cognitive impairment and dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Clinical and biochemical characterization of four patients with mutations in ECHS1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Posterior leukoencephalopathy in NARP syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

MR evaluation of cerebral oxygen metabolism and blood flow in stroke-like episodes of MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episode syndrome presenting with prolonged visual aura

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Effectiveness of midazolam for L-arginine-resistant headaches during stroke-like episodes in MELAS: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

NARP Syndrome: A 20-Year Follow-Up.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Sequence and functional analyses of mtDNA in a maternally inherited family with bipolar disorder and depression

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mitochondrial disease in autism spectrum disorder patients: a cohort analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Stroke-Like Episodes Heralding a Reversible Encephalopathy: Microbleeds as the Key to the Diagnosis of Cerebral Amyloid Angiopathy-Related Inflammation-A Case Report and Literature Review

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

The psychiatric manifestations of mitochondrial disorders: a case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mitochondrial respiratory complex I deficiency simulating spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Visual, Ocular Motor, and Cochleo-Vestibular Loss in Patients With Heteroplasmic, Maternally-Inherited Diabetes Mellitus and Deafness (MIDD), 3243 Transfer RNA Mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Pursuit-paretic and epileptic nystagmus in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

A case of mitochondrial cytopathy with exertion induced dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Novel heteroplasmic mutation in the anticodon stem of mitochondrial tRNA(Lys) associated with dystonia and stroke-like episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Leber's hereditary optic neuropathy with dystonia in a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

[Psychiatric disturbances in five patients with MELAS syndrome]

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Mitochondrial myopathy and comorbid major depressive disorder: effectiveness of dTMS on gait and mood symptoms

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Central nervous system imaging in mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Multimodal imaging-monitored progression of stroke-like episodes in a case of MELAS syndrome

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

An unusual case of neurobrucellosis presenting with stroke-like episodes

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Systemic Sarcoidosis Presenting with Headache and Stroke-Like Episodes

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Stroke and Stroke-like Episodes in Muscle Disease

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Ocular motor disorders in mitochondrial encephalopathy with lactic acid and stroke-like episodes with the 3271 (T-C) point mutation in mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Large-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype

1 reference

https://api.crossref.org/works/10.1017/CJN.2017.211

7 January 2021

Identifiers

DOI

10.1017/CJN.2017.211

1 reference

4 February 2018

1 reference

4 February 2018