Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations

A longitudinal big data approach for precision health

(2019) Sophia Miryam Schüssler-Fiorenza Rose et al.   NATURE MEDICINE

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy

(2018) L.L. Gramegna et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

(2018) John P Grady et al.   EMBO Molecular Medicine

Comparison of magnetic resonance spectroscopy (MRS) with arterial spin labeling (ASL) in the differentiation between mitochondrial encephalomyopathy, lactic Acidosis, plus stroke-like episodes (MELAS) and acute ischemic stroke (AIS)

(2018) Xiaodi Li et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial

(2018) Yutaka Ohsawa et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mitochondrial dysfunction in myotonic dystrophy type 1

(2018) Laura Ludovica Gramegna et al.   NEUROMUSCULAR DISORDERS

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

(2018) Sarah J. Pickett et al.   Annals of Clinical and Translational Neurology

MELAS: Monitoring treatment with Magnetic Resonance Spectroscopy

(2018) Dominic A. Hovsepian et al.   ACTA NEUROLOGICA SCANDINAVICA

Therapeutic regimen of l-arginine for MELAS: 9-year, prospective, multicenter, clinical research

(2018) Yasutoshi Koga et al.   JOURNAL OF NEUROLOGY

Black Toenail Sign in MELAS Syndrome

(2017) Matthew T. Whitehead et al.   PEDIATRIC NEUROLOGY

Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome

(2016) A. Fayssoil et al.   EUROPEAN JOURNAL OF NEUROLOGY

Using visual rating to diagnose dementia: a critical evaluation of MRI atrophy scales

(2015) Lorna Harper et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

(2015) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

Presence and progression of white matter hyperintensities and cognition: A meta-analysis

(2014) R. P. Kloppenborg et al.   NEUROLOGY

Mitochondrial DNA: Impacting Central and Peripheral Nervous Systems

(2014) Valerio Carelli et al.   NEURON

Clinical Proton MR Spectroscopy in Central Nervous System Disorders

(2014) Gülin Öz et al.   RADIOLOGY

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

(2013) Michelangelo Mancuso et al.   JOURNAL OF NEUROLOGY

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

(2013) V. Nesbitt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Diagnosis of mitochondrial myopathies

(2013) Margherita Milone et al.   MOLECULAR GENETICS AND METABOLISM

Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation

(2012) Henriette J. Tschampa et al.   JOURNAL OF NEUROLOGY

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I

(2012) Costanza Lamperti et al.   NEUROMUSCULAR DISORDERS

Neuroimaging in Mitochondrial Disorders

(2012) Andrea L. Gropman   Neurotherapeutics

White Matter Lesion Severity in Mild Acute Ischemic Stroke Patients and Functional Outcome After 1 Year

(2012) Christopher O. Leonards et al.   STROKE

MELAS: A nationwide prospective cohort study of 96 patients in Japan

(2011) Shuichi Yatsuga et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Visual assessment of posterior atrophy development of a MRI rating scale

(2011) Esther L. G. E. Koedam et al.   EUROPEAN RADIOLOGY

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype

(2011) P. Kaufmann et al.   NEUROLOGY

Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges

(2010) Leonardo Pantoni   LANCET NEUROLOGY

Pathophysiologic evaluation of MELAS strokes by serially quantified MRS and CASL perfusion images

(2009) Tetsuya Tsujikawa et al.   BRAIN & DEVELOPMENT

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

(2009) Teruo Yokoyama et al.   NEUROPATHOLOGY