Published in Genet Mol Biol on August 17, 2020
Interobserver Agreement of the Echocardiographic Diagnosis of LV Hypertrabeculation/Noncompaction. JACC Cardiovasc Imaging (2015) 1.48
Onset of MELAS due to the m.3243A > G mutation is early if the large phenotypic variability is considered. Mol Genet Metab Rep (2016) 1.33
Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation. Mol Genet Metab Rep (2016) 1.08
Left ventricular hypertrabeculation/noncompaction in hyperoxaluria. Turk Kardiyol Dern Ars (2015) 1.07
Reprint of: Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. Can J Diabetes (2016) 1.07
A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. J Hum Genet (2017) 1.07
Letter to the Editor: Do not only ablate but also look for myocardial fibrosis and myopathy in noncompaction. Turk Kardiyol Dern Ars (2015) 1.06
Explanations for discordance of noncompaction in monozygotic twins. Am J Med Genet A (2015) 1.06
Consider a mitochondrial disorder when left ventricular hypertrabeculation/noncompaction is associated with renal cysts. Tex Heart Inst J (2014) 1.04
Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia. Neuroophthalmology (2017) 0.95
Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. Can J Diabetes (2015) 0.93
Low blood heteroplasmy-rate may cause late-onset MELAS. Mol Genet Metab Rep (2017) 0.91
Clozapine for mitochondrial psychosis. Mol Genet Metab Rep (2017) 0.83
Mitochondrial depletion syndromes in children and adults. Can J Neurol Sci (2013) 0.83
Age-dependency of cardiac and neuromuscular findings in adults with left ventricular hypertrabeculation/noncompaction. Am J Cardiol (2015) 0.81
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. Gene (2013) 0.78
Chronic long-standing headache due to neurocysticercosis. Headache (2006) 0.78
Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema. Int J Gen Med (2013) 0.77
Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves. Korean Circ J (2016) 0.76
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A. Cardiology (2014) 0.76
Unusual recovery of respiratory chain complex-III deficiency upon G-tube feeding and a cocktail. Mol Genet Metab Rep (2016) 0.75
ND2 mutation with minimal coenzyme-Q responsive manifestations. Mol Genet Metab Rep (2017) 0.75
Lamin A/C mutations do not cause left ventricular hypertrabeculation/noncompaction. Tex Heart Inst J (2015) 0.75
Consider the genetic and myopathic background, familial occurrence, and alternative definitions of left ventricular hypertrabeculation/noncompaction. J Saudi Heart Assoc (2015) 0.75
Left ventricular hypertrabeculation/noncompaction in β-thalassemia. Am J Hematol (2013) 0.75
Mitochondrial vasculopathy due to the m.3243A > G mutation is not restricted to the carotid artery. Mol Genet Metab Rep (2016) 0.75
Transient symmetric T2-hyperintensities of basal ganglia and brainstem not only point to Leigh syndrome. Ann Indian Acad Neurol (2016) 0.75
Neonatal pulmonary hypertension in mitochondrial disorders due to TMEM70 mutations. Mol Genet Metab Rep (2014) 0.75
Impaired Hearing in Mitochondrial Disorders. Chin Med J (Engl) (2015) 0.75
Intermittent pre-excitation-syndrome in facio-scapulo-humeral muscular dystrophy. Korean Circ J (2014) 0.75
Malingering and Factitious Disorder (Münchausen-syndrome) can be Mitochondrial. Indian J Psychol Med (2016) 0.75
Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients. J Child Neurol (2015) 0.75
Phenotypic heterogeneity of MELAS. Mol Genet Metab Rep (2016) 0.75
Assessment of the phenotype genotype variability and correlation in m.3243A > G mutation carriers requires prospective studies. Mol Genet Metab Rep (2016) 0.75
Compound heterozygous myotonic dystrophy type 1. Am J Med Genet A (2015) 0.75
Complex-I defect with minimal manifestations. Arch Med Sci (2014) 0.75
Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis. Case Rep Genet (2015) 0.75
Detection of the mutation may guide treatment of heart and muscle in Duchenne muscular dystrophy. Int Med Case Rep J (2016) 0.75
Early-onset Hirayama disease in a female. SAGE Open Med Case Rep (2017) 0.75
Catheter ablation of multiple accessory pathways in duchenne muscular dystrophy. Korean Circ J (2013) 0.75
MELAS syndrome due to the m.3291T > C mutation. Mol Genet Metab Rep (2016) 0.75
Mitochondrial myopathy, dysmorphism, exercise-induced vomiting and tachycardia the mutation m.4831G > A. Mol Genet Metab Rep (2017) 0.75
Psychological morbidity in Leber's hereditary optic neuropathy depends on phenotypic, social, economic, and genetic factors. Clin Ophthalmol (2017) 0.75
Affection of the Respiratory Muscles in Combined Complex I and IV Deficiency. Open Neurol J (2017) 0.75
Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders. Clin Med Insights Cardiol (2016) 0.75
Pathogenicity of the Homoplasmic m.8701A>G Variant Requires Confirmation. Chin Med J (Engl) (2016) 0.75
Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome? Mol Genet Metab Rep (2016) 0.75
Genetic Testing Is Not Required for Diagnosing Left Ventricular Hypertrabeculation / Non-Compaction. Maedica (Buchar) (2015) 0.75
Leber's hereditary optic neuropathy is multiorgan not mono-organ. Clin Ophthalmol (2016) 0.75
Comment on "Ventricular non-compaction cardiomyopathy: prenatal diagnosis and pathology". Prenat Diagn (2016) 0.75
Aborted sudden cardiac death and a mother with suspected metabolic myopathy. Clin Med Insights Cardiol (2014) 0.75
Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia. SAGE Open Med Case Rep (2017) 0.75
Reduced bone mineral density in m.3243A > G carriers may be multifactorial. J Bone Miner Res (2017) 0.75
Noncompaction and scleroderma. Turk Kardiyol Dern Ars (2016) 0.75
Management of statin myopathy. J Cachexia Sarcopenia Muscle (2017) 0.75
Facial Diplegia as Initial Manifestation of Acute, Myelomonocytic Leukemia with Isolated Trisomy 47, XY,+11[14]/46, XY[6]. J Neurosci Rural Pract (2017) 0.75
Traumatic brain injury is unlikely precipitating Leigh syndrome due to the GJB2 mutation c.35delG. Emerg (Tehran) (2017) 0.75
Phenotypic and genotypic features in pediatric and adult mitochondrial disorders. Muscle Nerve (2017) 0.75
Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder. Case Rep Neurol (2017) 0.75
Mitochondrial cardioencephalopathy due to a COQ4 mutation. Mol Genet Metab Rep (2017) 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
Prevalence and Outcome of Mitochondrial Epilepsy. Ann Neurol (2016) 0.75
Ischemic stroke and intestinal bleeding under dabigatran in metabolic myopathy. Cardiovasc Ther (2013) 0.75
Phenotypic Heterogeneity of the m.14459G>A Mutation. Child Neurol Open (2017) 0.75
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe). Mol Genet Metab Rep (2016) 0.75
Costs for mitochondrial medicine will remain high as long as mitochondrial disorders are misdiagnosed. Mol Genet Metab Rep (2017) 0.75
Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease. Mol Genet Metab Rep (2017) 0.75
NDUFS4-related Leigh syndrome in Hutterites. Am J Med Genet A (2017) 0.75
MELAS or more. Arq Neuropsiquiatr (2016) 0.75
Letter to the Editor: Posterior spinal instrumented fusion for idiopathic scoliosis in patients with multisystemic neurodegenerative disorder: a report of two cases. J Orthop Surg (Hong Kong) (2016) 0.75
Treating mitochondrial disorders requires full exploitation of available therapeutic options. Mol Genet Metab Rep (2017) 0.75
Mitochondrial multiorgan disorder syndrome (MIMODS) due to a compound heterozygous mutation in the ACAD9 gene. Mol Genet Metab Rep (2017) 0.75
Autosomal Dominant Polycystic Kidney Disease and Ventricular Noncompaction: Unanswered Questions. Am J Kidney Dis (2016) 0.75
Do High mtDNA Copy Numbers Truly Prevent LHON Manifestations? Invest Ophthalmol Vis Sci (2017) 0.75
Can MR spectroscopy and muscle biopsy findings be correlated with MELAS and CPEO? CNS Neurosci Ther (2017) 0.75
Regional cerebral hyperperfusion: A biomarker of upcoming stroke-like episodes? J Magn Reson Imaging (2017) 0.75
Spectrum of Movement Disorders in Mitochondrial Disorders. JAMA Neurol (2016) 0.75
Ophthalmologic involvement in Leigh syndrome. Acta Ophthalmol (2016) 0.75
Fibroblast growth-factor-21 is currently a weak biomarker for identifying mitochondrial and non-mitochondrial inborn errors of metabolism. Mol Genet Metab Rep (2017) 0.75
Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation. Iran J Neurol (2017) 0.75
Cardiopulmonary involvement in limb girdle muscular dystrophy 2A. Muscle Nerve (2017) 0.75
Auditory and Vestibular Dysfunction in M.3243A>G Carriers. Otol Neurotol (2019) 0.75