Published in Int Med Case Rep J on March 03, 2016
Deflazacort in Duchenne muscular dystrophy: a comparison of two different protocols. Neuromuscul Disord (2004) 1.07
Myocardial fibrosis burden predicts left ventricular ejection fraction and is associated with age and steroid treatment duration in duchenne muscular dystrophy. J Am Heart Assoc (2015) 1.00
Effect of deflazacort on cardiac and sternocleidomastoid muscles in Duchenne muscular dystrophy: a magnetic resonance imaging study. Eur J Paediatr Neurol (2008) 1.00
Duchenne muscular dystrophy: a clinical, histopathological and genetic study at a neurology tertiary care center in Southern India. Neurol India (2010) 0.95
Multiple exon skipping strategies to by-pass dystrophin mutations. Neuromuscul Disord (2011) 0.87
Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study. Eur Heart J Cardiovasc Imaging (2015) 0.87
Cardiac resynchronization therapy in a young patient with Duchenne muscular dystrophy. Int Med Case Rep J (2015) 0.84
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 Nongenetic Pathogenesis of Noncompaction. Pediatr Cardiol (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
Do lesional perfusion abnormalities on arterial spin labeling truly contribute to the diagnosis of Leigh syndrome? Pediatr Radiol (2016) 0.86
Is chronic fatigue syndrome truly associated with haplogroups or mtDNA single nucleotide polymorphisms? J Transl Med (2016) 0.84
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
Aborted sudden cardiac death and a mother with suspected metabolic myopathy. Clin Med Insights Cardiol (2014) 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
Transient symmetric T2-hyperintensities of basal ganglia and brainstem not only point to Leigh syndrome. Ann Indian Acad Neurol (2016) 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
Neonatal pulmonary hypertension in mitochondrial disorders due to TMEM70 mutations. Mol Genet Metab Rep (2014) 0.75
Malingering and Factitious Disorder (Münchausen-syndrome) can be Mitochondrial. Indian J Psychol Med (2016) 0.75
Phenotypic heterogeneity of MELAS. Mol Genet Metab Rep (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
Assessment of the phenotype genotype variability and correlation in m.3243A > G mutation carriers requires prospective studies. Mol Genet Metab Rep (2016) 0.75
Complex-I defect with minimal manifestations. Arch Med Sci (2014) 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
Psychological morbidity in Leber's hereditary optic neuropathy depends on phenotypic, social, economic, and genetic factors. Clin Ophthalmol (2017) 0.75
Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome? Mol Genet Metab Rep (2016) 0.75
Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset. Sultan Qaboos Univ Med J (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
Unusual recovery of respiratory chain complex-III deficiency upon G-tube feeding and a cocktail. Mol Genet Metab Rep (2016) 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
Compound heterozygous myotonic dystrophy type 1. Am J Med Genet A (2015) 0.75
Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis. Case Rep Genet (2015) 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
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
Cerebral involvement in mitochondrial disorders on imaging. Childs Nerv Syst (2016) 0.75
Ischemic stroke and intestinal bleeding under dabigatran in metabolic myopathy. Cardiovasc Ther (2013) 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
Can MR spectroscopy and muscle biopsy findings be correlated with MELAS and CPEO? CNS Neurosci Ther (2017) 0.75
Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease. 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
Phenotypic spectrum of the m.8344A>G mutation. J Neurol (2016) 0.75
Re: Feuer et al.: Gene therapy for Leber hereditary optic neuropathy: initial results (Ophthalmology 2016;123:558-70). Ophthalmology (2016) 0.75
The Leigh phenotype resulting from C12orf65 variants. Genet Mol Biol (2020) 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
Regional cerebral hyperperfusion: A biomarker of upcoming stroke-like episodes? J Magn Reson Imaging (2017) 0.75
Costs for mitochondrial medicine will remain high as long as mitochondrial disorders are misdiagnosed. Mol Genet Metab Rep (2017) 0.75
Reduced bone mineral density in m.3243A > G carriers may be multifactorial. J Bone Miner Res (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
Auditory and Vestibular Dysfunction in M.3243A>G Carriers. Otol Neurotol (2019) 0.75
Noncompaction and scleroderma. Turk Kardiyol Dern Ars (2016) 0.75
MELAS or more. Arq Neuropsiquiatr (2016) 0.75
Peculiarities of progressive external ophthalmoplegia due to single mitochondrial DNA deletions. J Formos Med Assoc (2016) 0.75
Phenotypic Heterogeneity of the m.14459G>A Mutation. Child Neurol Open (2017) 0.75
Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia. SAGE Open Med Case Rep (2017) 0.75
Do High mtDNA Copy Numbers Truly Prevent LHON Manifestations? Invest Ophthalmol Vis Sci (2017) 0.75
Traumatic brain injury is unlikely precipitating Leigh syndrome due to the GJB2 mutation c.35delG. Emerg (Tehran) (2017) 0.75
Mitochondrial cardioencephalopathy due to a COQ4 mutation. Mol Genet Metab Rep (2017) 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
Cardiopulmonary involvement in limb girdle muscular dystrophy 2A. Muscle Nerve (2017) 0.75
Treating mitochondrial disorders requires full exploitation of available therapeutic options. Mol Genet Metab Rep (2017) 0.75
NDUFS4-related Leigh syndrome in Hutterites. Am J Med Genet A (2017) 0.75
Autosomal Dominant Polycystic Kidney Disease and Ventricular Noncompaction: Unanswered Questions. Am J Kidney Dis (2016) 0.75
Spectrum of Movement Disorders in Mitochondrial Disorders. JAMA Neurol (2016) 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
Management of statin myopathy. J Cachexia Sarcopenia Muscle (2017) 0.75
Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders. Neuropsychiatr Dis Treat (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
Sea food consumption for improving cardiac and cerebral manifestations of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Ann Transl Med (2017) 0.75
Ophthalmologic involvement in Leigh syndrome. Acta Ophthalmol (2016) 0.75
Prevalence and Outcome of Mitochondrial Epilepsy. Ann Neurol (2016) 0.75