Published in Ann N Y Acad Sci on October 01, 2008
Long non-coding RNAs in nervous system function and disease. Brain Res (2010) 2.53
MELAS: a mitochondrial disorder in an adult patient with a renal transplant. Wien Klin Wochenschr (2010) 1.57
The neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol (2010) 1.51
OXPHOS mutations and neurodegeneration. EMBO J (2012) 1.33
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med (2014) 1.27
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab (2012) 1.24
The importance of mitochondria in age-related and inherited eye disorders. Ophthalmic Res (2010) 1.13
Synergy of homocysteine, microRNA, and epigenetics: a novel therapeutic approach for stroke. Mol Neurobiol (2013) 1.00
The emerging role of epigenetics in stroke: II. RNA regulatory circuitry. Arch Neurol (2010) 0.98
A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep (2010) 0.96
An impaired mitochondrial electron transport chain increases retention of the hypoxia imaging agent diacetylbis(4-methylthiosemicarbazonato)copperII. Proc Natl Acad Sci U S A (2011) 0.96
Leber hereditary optic neuropathy: current perspectives. Clin Ophthalmol (2015) 0.94
Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome. BMC Nephrol (2012) 0.92
New opportunities: harnessing induced pluripotency for discovery in diabetes and metabolism. Cell Metab (2013) 0.90
Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes. Int J Clin Exp Pathol (2015) 0.90
Gastrointestinal and hepatic manifestations of mitochondrial disorders. J Inherit Metab Dis (2013) 0.89
Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS. Biochim Biophys Acta (2012) 0.89
Impact of the mitochondrial genetic background in complex III deficiency. PLoS One (2010) 0.88
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. Mol Genet Metab (2016) 0.87
Genetic counseling in mitochondrial disease. Neurotherapeutics (2013) 0.87
Migraine headache: a review of the molecular genetics of a common disorder. J Headache Pain (2012) 0.86
Reduced mitochondrial Ca(2+) transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase. Cell Death Differ (2015) 0.86
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease. Br J Pharmacol (2012) 0.85
Cardiological manifestations of mitochondrial respiratory chain disorders. Acta Myol (2011) 0.85
The m.3243A>G mtDNA mutation is pathogenic in an in vitro model of the human blood brain barrier. Mitochondrion (2009) 0.85
Clinico-radiological spectrum of bilateral temporal lobe hyperintensity: a retrospective review. Br J Radiol (2012) 0.84
Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report-. Korean J Anesthesiol (2010) 0.82
Nitric oxide synthesis is increased in cybrid cells with m.3243A>G mutation. Int J Mol Sci (2012) 0.82
Complex I inhibition in the visual pathway induces disorganization of the node of Ranvier. Neurobiol Dis (2013) 0.81
Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp). Acta Neuropathol Commun (2015) 0.81
Successful left hemihepatectomy and perioperative management of a patient with biliary cystadenocarcinoma, complicated with MELAS syndrome: report of a case. Surg Today (2010) 0.81
Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies. Front Genet (2016) 0.80
Mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes. Oxid Med Cell Longev (2014) 0.80
The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. Meta Gene (2013) 0.78
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. PLoS One (2015) 0.77
Embryonic Lethality of Mitochondrial Pyruvate Carrier 1 Deficient Mouse Can Be Rescued by a Ketogenic Diet. PLoS Genet (2016) 0.77
Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus. BMC Med Genet (2013) 0.77
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episode syndrome presenting with prolonged visual aura. J Clin Neurol (2015) 0.76
Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation. Mitochondrion (2014) 0.76
Hepatic encephalopathy: An approach to its multiple pathophysiological features. World J Hepatol (2012) 0.76
Genetic Risk Factors for Ischemic and Hemorrhagic Stroke. Curr Cardiol Rep (2016) 0.76
Eye movement and vestibular dysfunction in mitochondrial A3243G mutation. Neurol Sci (2016) 0.75
MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis. Heart Fail Rev (2016) 0.75
Speech-Language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndrome. J Pediatr Neurosci (2015) 0.75
Wolff-Parkinson-white syndrome in a patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome. Korean Circ J (2011) 0.75
Clinical and radiologic reversal of stroke-like episodes in MELAS with high-dose L-arginine. Neurology (2015) 0.75
Atypical Strokes in a Young African American Male: A Case of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. Stroke Res Treat (2011) 0.75
A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern. Int Med Case Rep J (2012) 0.75
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination. Ann Neurol (2016) 0.75
Mitochondrial retrograde signaling in the Drosophila nervous system and beyond. Fly (Austin) (2016) 0.75
Addressing RNA integrity to determine the impact of mitochondrial DNA mutations on brain mitochondrial function with age. PLoS One (2014) 0.75
The importance of the ionic product for water to understand the physiology of the acid-base balance in humans. Biomed Res Int (2014) 0.75
Sea food consumption for improving cardiac and cerebral manifestations of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Ann Transl Med (2017) 0.75
Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome. Ochsner J (2017) 0.75
A case of mitochondrial disease with severe left ventricular hypertrophy. J Med Ultrason (2001) (2011) 0.75
Arginine and citrulline for the treatment of MELAS syndrome. J Inborn Errors Metab Screen (2017) 0.75
The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve (2014) 2.02
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet A (2004) 1.64
Toward more efficient clinical trials for amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2010) 1.45
Experience with the Awaji Island modifications to the ALS diagnostic criteria. Muscle Nerve (2010) 1.43
Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther (2011) 1.42
Wolff-Parkinson-White syndrome in Patients With MELAS. Arch Neurol (2007) 1.29
Missed opportunities for duchenne muscular dystrophy. J Pediatr (2009) 1.21
Common data elements for clinical research in Friedreich's ataxia. Mov Disord (2012) 1.14
Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One (2012) 1.08
Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol (2011) 1.08
Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox". J Neurol Sci (2004) 1.07
Association of autistic spectrum disorders with dystrophinopathies. Pediatr Neurol (2009) 1.07
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. Arch Neurol (2010) 1.06
Spinal muscular atrophy. Neurotherapeutics (2008) 1.06
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Arch Neurol (2005) 1.03
Carrier testing for spinal muscular atrophy. Genet Med (2010) 1.02
Muscle coenzyme Q10 level in statin-related myopathy. Arch Neurol (2005) 1.01
Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy. Neuromuscul Disord (2009) 1.01
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. PLoS One (2012) 0.95
Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers. Neurology (2014) 0.94
Efficiency perspectives on adaptive designs in stroke clinical trials. Stroke (2011) 0.94
Scoliosis surgery in children with neuromuscular disease: findings from the US National Inpatient Sample, 1997 to 2003. Arch Neurol (2010) 0.94
Body mass index (BMI) as predictor of ALSFRS-R score decline in ALS patients. Amyotroph Lateral Scler Frontotemporal Degener (2013) 0.93
Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol (2002) 0.88
Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS. Am J Med Genet A (2009) 0.88
Clinical outcome measures in spinal muscular atrophy. J Child Neurol (2009) 0.88
Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy. Neuromuscul Disord (2010) 0.87
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. Brain Pathol (2004) 0.87
Therapeutic developments in spinal muscular atrophy. Ther Adv Neurol Disord (2010) 0.87
Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy. J Child Neurol (2010) 0.86
Infrastructure resources for clinical research in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener (2013) 0.85
Thigh muscle volume measured by magnetic resonance imaging is stable over a 6-month interval in spinal muscular atrophy. J Child Neurol (2011) 0.85
Down syndrome: national conference on patient registries, research databases, and biobanks. Mol Genet Metab (2011) 0.85
Amyotrophic lateral sclerosis and primary lateral sclerosis: evidence-based diagnostic evaluation of the upper motor neuron. Neuroimaging Clin N Am (2003) 0.83
Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. PLoS One (2007) 0.83
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. Arch Neurol (2010) 0.83
Reliability of telephone administration of the PedsQL Generic Quality of Life Inventory and Neuromuscular Module in spinal muscular atrophy (SMA). Neuromuscul Disord (2010) 0.82
SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One (2013) 0.82
Web-based data management for a phase II clinical trial in ALS. Amyotroph Lateral Scler (2009) 0.81
Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2. J Child Neurol (2012) 0.81
Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy. J Child Neurol (2012) 0.81
A novel tRNA(Val) mitochondrial DNA mutation causing MELAS. J Neurol Sci (2008) 0.81
Neuroscience networking: linking discovery to drugs. Neuropsychopharmacology (2012) 0.81
Learning to walk: challenges for spinal muscular atrophy clinical trials. Neurology (2007) 0.79
Commonalities and challenges in the development of clinical trial measures in neurology. Neurotherapeutics (2015) 0.78
Bioelectrical impedance analysis can be a useful screen for excess adiposity in spinal muscular atrophy. J Child Neurol (2010) 0.78
Motor Unit Estimate Number in the Anterior Tibial Muscle: Normative Data versus Findings in Critically Ill Patients in Intensive Care Units. J Clin Neuromuscul Dis (2002) 0.77
ALS Research Group (ALSRG): second meeting, a summary report. Amyotroph Lateral Scler (2006) 0.77
Randomized control trials in ALS: lessons learned. Amyotroph Lateral Scler Other Motor Neuron Disord (2004) 0.77
Carotid intervention: is it warranted in asymptomatic individuals if risk factors are aggressively managed? Stroke (2014) 0.76
Fatigue leads to gait changes in spinal muscular atrophy. Muscle Nerve (2011) 0.76
Strength, Hardening, and Failure Observed by In Situ TEM Tensile Testing. Adv Eng Mater (2012) 0.75
ALS treatment strikes out while trying for a homer: the topiramate trial. Neurology (2003) 0.75
Reply: To PMID 23893312. Muscle Nerve (2014) 0.75
Survival in SMA type 1. Neuromuscul Disord (2008) 0.75
Funding agencies and disease organizations: resources and recommendations to facilitate ALS clinical research. Amyotroph Lateral Scler Frontotemporal Degener (2013) 0.75
An integrated motion capture system for evaluation of neuromuscular disease patients. Conf Proc IEEE Eng Med Biol Soc (2009) 0.75
Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation. Can J Neurol Sci (2005) 0.75
Small-Fiber Neuropathy Associated with Capecitabine (Xeloda)-induced Hand-foot Syndrome: A Case Report. J Clin Neuromuscul Dis (2006) 0.75
A 14-year-old male with asymptomatic proteinuria and hearing loss. Am J Kidney Dis (2003) 0.75
Erratum to: Commonalities and Challenges in the Development of Clinical Trial Measures in Neurology. Neurotherapeutics (2015) 0.75
Design and evaluation of a hybrid passive and active gravity neutral orthosis (GNO). Conf Proc IEEE Eng Med Biol Soc (2009) 0.75
Adding more muscle and nerve to clinical trials. Muscle Nerve (2011) 0.75