Published in Neuropathology on May 23, 2008
Retinal arterial abnormalities correlate with brain white matter lesions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy. Clin Experiment Ophthalmol (2008) 1.45
Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. Am J Hum Genet (2007) 1.41
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol (2005) 1.16
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet (2008) 1.09
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. J Neurol Neurosurg Psychiatry (2009) 1.02
NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL. J Neurol Neurosurg Psychiatry (2010) 0.97
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2013) 0.96
A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family. Neuromuscul Disord (2010) 0.95
Aspirin plus clopidogrel as secondary prevention after stroke or transient ischemic attack: a systematic review and meta-analysis. Cerebrovasc Dis (2014) 0.89
[Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao (2005) 0.86
Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. J Hum Genet (2011) 0.84
The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia. Mitochondrial DNA (2014) 0.84
Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy. Neuropathology (2007) 0.83
Anti-inflammatory effects of Edaravone and Scutellarin in activated microglia in experimentally induced ischemia injury in rats and in BV-2 microglia. BMC Neurosci (2014) 0.83
MERRF/MELAS overlap syndrome due to the m.3291T>C mutation. Metab Brain Dis (2013) 0.83
MR evaluation of cerebral oxygen metabolism and blood flow in stroke-like episodes of MELAS. J Neurol Sci (2012) 0.83
Alpers syndrome with prominent white matter changes. Brain Dev (2007) 0.82
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. J Hum Genet (2011) 0.82
Apoptosis is suspended in muscle of mitochondrial encephalomyopathies. Acta Neuropathol (2002) 0.82
Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome. Chin Med J (Engl) (2006) 0.82
Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion. Clin Neurol Neurosurg (2012) 0.81
Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. Neurol Sci (2012) 0.80
Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese. Neuropathology (2007) 0.80
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population. Neuromolecular Med (2014) 0.80
Expression of angiotensin II and its receptors in activated microglia in experimentally induced cerebral ischemia in the adult rats. Mol Cell Biochem (2013) 0.80
Childhood chronic inflammatory demyelinating polyneuropathy with nonuniform pathologic features. Pediatr Neurol (2010) 0.80
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle. Int J Neurosci (2015) 0.80
Unfolded protein response and activated degradative pathways regulation in GNE myopathy. PLoS One (2013) 0.80
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation. Mol Genet Metab (2013) 0.79
[Diagnosis of congenital muscular dystrophy and clinical significance of merosin expression]. Zhonghua Er Ke Za Zhi (2006) 0.79
Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case. Neuropathology (2010) 0.79
Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease. J Child Neurol (2012) 0.79
Reduction expression of thrombomodulin and endothelial cell nitric oxide synthase in dermatomyositis. Neuropathology (2007) 0.79
Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum. Neurol Sci (2015) 0.78
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease]. Zhonghua Yi Xue Za Zhi (2009) 0.78
[Immunopathological changes of micro-vessels in dermatomyositis]. Zhonghua Yi Xue Za Zhi (2006) 0.78
Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene. J Neurol Neurosurg Psychiatry (2010) 0.78
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. Neurol Sci (2013) 0.78
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene. Muscle Nerve (2010) 0.78
Peroxisome proliferator-activated receptor alpha agonist-induced down-regulation of hepatic glucocorticoid receptor expression in SD rats. Biochem Biophys Res Commun (2008) 0.78
A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family. Muscle Nerve (2010) 0.78
[Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II]. Zhonghua Yi Xue Za Zhi (2013) 0.78
Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum. Clin Neuropathol (2012) 0.78
Variability of warfarin dose response associated with CYP2C9 and VKORC1 gene polymorphisms in Chinese patients. J Int Med Res (2013) 0.78
Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A. Neuropathology (2008) 0.78
Asian patients with limb girdle muscular dystrophy 2I (LGMD2I). J Clin Neurosci (2011) 0.78
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. Am J Med Genet A (2009) 0.78
Ultrasound-triggered thrombolysis using urokinase-loaded nanogels. Int J Pharm (2012) 0.77
Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies. Mitochondrion (2006) 0.77
Muscle injury induced by different types of contractions in dystrophic mdx mice. J Muscle Res Cell Motil (2012) 0.77
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy. World J Pediatr (2014) 0.77
Novel GLA gene mutations in two Chinese families with classic Fabry disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2005) 0.77
Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses. Clin Neuropathol (2013) 0.77
[Tumor-like inflammatory demyelinating diseases of the central nervous system with relapse onset: a case report and review]. Beijing Da Xue Xue Bao (2009) 0.77
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred. Prenat Diagn (2010) 0.76
[Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2003) 0.76
[Clinical features in 4 Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]. Beijing Da Xue Xue Bao (2004) 0.76
[Activities of Akt pathway and their correlation with pathological changes in myotonic dystrophy]. Beijing Da Xue Xue Bao (2010) 0.76
Neuroinflammation and cell therapy for Parkinson's disease. Front Biosci (Schol Ed) (2011) 0.76
Neuropathologic and clinical features in eight Chinese patients with Leigh disease. J Child Neurol (2002) 0.76
The overlap of corticobasal degeneration and Alzheimer changes: an autopsy case. Neuropathology (2009) 0.76
INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients. Clin Neuropathol (2015) 0.76
Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2. Neuropathology (2009) 0.75
[Rheumatoid leptomeningitis: a case report and literature review]. Beijing Da Xue Xue Bao (2006) 0.75
micro-RNA screening and prediction model construction for diagnosis of salt-sensitive essential hypertension. Medicine (Baltimore) (2017) 0.75
Combustion smoke-induced inflammation in the olfactory bulb of adult rats. J Neuroinflammation (2014) 0.75
[The clinical and pathological characteristics of a patient with glycogen storage disease IV]. Zhonghua Nei Ke Za Zhi (2009) 0.75
Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS. Chin Med J (Engl) (2002) 0.75
[Mitochondrial DNA mutation analysis in 97 Chinese patients with mitochondrial cephalomyopathy]. Zhonghua Yi Xue Za Zhi (2008) 0.75
[Expressions of PDCD5 and other apoptosis-related proteins in muscle of patients with mitochondrial cytopathy]. Zhonghua Yi Xue Za Zhi (2009) 0.75
[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis]. Zhonghua Er Ke Za Zhi (2006) 0.75
An Effective Approach for Glycan Structure De Novo Sequencing From HCD Spectra. IEEE Trans Nanobioscience (2016) 0.75
[Research progress on congenital muscular dystrophy]. Zhonghua Er Ke Za Zhi (2005) 0.75
Novel mitochondrial C15620A variant may modulate the phenotype of mitochondrial G11778A mutation in a Chinese family with Leigh syndrome. Neuromolecular Med (2013) 0.75
[Diagnostic value of muscle, sural nerve and skin biopsies in childhood neuromuscular disorders]. Zhonghua Er Ke Za Zhi (2006) 0.75
Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation. Clin Neuropathol (2017) 0.75
[NOTCH3 gene mutations in four Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy]. Zhonghua Yi Xue Za Zhi (2004) 0.75
Azygos vein to pulmonary vein fistula is a pathway for cerebral embolism. Chest (2010) 0.75
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. Muscle Nerve (2014) 0.75
[A study on the expression of anti-mitochondrial antibody in the brain of patients with MELAS syndrome]. Zhonghua Nei Ke Za Zhi (2009) 0.75
De Novo Sequencing Assisted Approach for Characterizing Mixture MS/MS Spectra. IEEE Trans Nanobioscience (2016) 0.75
An improved process of ethanol production from hemicellulose: bioconversion of undetoxified hemicellulosic hydrolyzate from steam-exploded corn stover with a domesticated Pichia stipitis. Appl Biochem Biotechnol (2012) 0.75
[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy]. Zhonghua Er Ke Za Zhi (2015) 0.75
[Diffuse muscular calcification with subcutaneous cysts]. Beijing Da Xue Xue Bao (2005) 0.75
[Neurolymphomatosis, a case report]. Beijing Da Xue Xue Bao (2005) 0.75
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. J Hum Genet (2012) 0.75
[Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families]. Zhonghua Xin Xue Guan Bing Za Zhi (2010) 0.75
Scutellarin attenuates microglia-mediated neuroinflammation and promotes astrogliosis in cerebral ischemia - a therapeutic consideration Curr Med Chem (2016) 0.75
[A case of infantile neuroaxonal dystrophy]. Zhonghua Er Ke Za Zhi (2004) 0.75
[Correlation of muscular impairment rating scale with myopathological changes in myotonic dystrophy type 1]. Zhonghua Yi Xue Za Zhi (2013) 0.75
Encephalic large arteries narrowness and peripheral neuropathy in a patient with adult-onset Still's disease. Rheumatol Int (2008) 0.75
Projection-aided videometric method for shape measurement of large-scale bulk material stockpile. Appl Opt (2011) 0.75
[Clinical pathology and molecular genetics on familial amyloidotic polyneuropathy]. Beijing Da Xue Xue Bao (2003) 0.75
[Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation]. Zhonghua Yi Xue Za Zhi (2012) 0.75
[Comparison of clinical characteristics of patients with riboflavin responsive lipid storage myopathy versus polymyositis]. Zhonghua Yi Xue Za Zhi (2014) 0.75
[White matter pattern of Leigh's syndrome, a case report]. Zhonghua Er Ke Za Zhi (2004) 0.75
[Identification of an ideal noninvasive method to detect A3243G gene mutation in MELAS syndrome]. Zhonghua Yi Xue Za Zhi (2008) 0.75