Published in Hum Mutat on September 01, 2005
Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies. J Neurol (2009) 0.89
Detection of convergent genome-wide signals of adaptation to tropical forests in humans. PLoS One (2015) 0.79
Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice. Mol Ther (2017) 0.75
Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results. Neuromuscul Disord (2016) 0.75
Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. Iran J Child Neurol (2017) 0.75
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
PML in a patient treated with fumaric acid. N Engl J Med (2013) 3.87
Nonmalignant late effects after allogeneic stem cell transplantation. Blood (2003) 2.95
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet (2005) 2.83
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Patient self-reports of symptoms and clinician ratings as predictors of overall cancer survival. J Natl Cancer Inst (2011) 2.56
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
Gene expression profile of glioblastoma multiforme invasive phenotype points to new therapeutic targets. Neoplasia (2005) 2.37
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet (2013) 2.36
Axonal prion protein is required for peripheral myelin maintenance. Nat Neurosci (2010) 2.25
Systemic inflammation disrupts the developmental program of white matter. Ann Neurol (2011) 2.20
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet (2004) 2.03
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet (2005) 1.95
Effects of psycho-oncologic interventions on emotional distress and quality of life in adult patients with cancer: systematic review and meta-analysis. J Clin Oncol (2013) 1.87
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet (2004) 1.78
Repairing injured peripheral nerves: Bridging the gap. Prog Neurobiol (2010) 1.77
IL-6 is required for glioma development in a mouse model. Oncogene (2004) 1.74
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet (2011) 1.70
Xenon reduces neurohistopathological damage and improves the early neurological deficit after cardiac arrest in pigs. Crit Care Med (2008) 1.70
The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA. J Neurosci (2005) 1.69
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab (2009) 1.68
Interleukin-6 induces transcriptional activation of vascular endothelial growth factor (VEGF) in astrocytes in vivo and regulates VEGF promoter activity in glioblastoma cells via direct interaction between STAT3 and Sp1. Int J Cancer (2005) 1.67
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet (2013) 1.61
Combining xenon and mild therapeutic hypothermia preserves neurological function after prolonged cardiac arrest in pigs. Crit Care Med (2012) 1.53
Chronic augmentation of the parasympathetic tone to the atrioventricular node: a nonthoracotomy neurostimulation technique for ventricular rate control during atrial fibrillation. J Cardiovasc Electrophysiol (2009) 1.51
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet (2007) 1.50
Reducing the duration of 100% oxygen ventilation in the early reperfusion period after cardiopulmonary resuscitation decreases striatal brain damage. Resuscitation (2010) 1.44
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain (2009) 1.44
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet (2010) 1.42
Resistance to antiangiogenic therapy is directed by vascular phenotype, vessel stabilization, and maturation in malignant melanoma. J Exp Med (2010) 1.41
Argon: neuroprotection in in vitro models of cerebral ischemia and traumatic brain injury. Crit Care (2009) 1.40
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Proc Natl Acad Sci U S A (2009) 1.39
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain (2007) 1.35
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat (2010) 1.34
Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol (2010) 1.31
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain (2013) 1.29
Endosomal transport of neurotrophins: roles in signaling and neurodegenerative diseases. Dev Neurobiol (2007) 1.29
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. Mov Disord (2014) 1.27
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain (2007) 1.25
Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience. J Child Neurol (2013) 1.24
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat (2012) 1.23
Implantation and explantation of a wireless epiretinal retina implant device: observations during the EPIRET3 prospective clinical trial. Invest Ophthalmol Vis Sci (2009) 1.21
Loss of heterozygosity 1p36 and 19q13 is a prognostic factor for overall survival in patients with diffuse WHO grade 2 gliomas treated without chemotherapy. J Clin Oncol (2006) 1.20
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. Am J Med Genet A (2014) 1.20
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care (2011) 1.19
Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat (2007) 1.19
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum Mol Genet (2012) 1.18
Progressive multicystic encephalopathy: is there more than hypoxia-ischemia? J Child Neurol (2007) 1.18
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res (2007) 1.18
Subacute axonal neuropathy in Parkinson's disease with cobalamin and vitamin B6 deficiency under duodopa therapy. Mov Disord (2010) 1.17
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mutat (2005) 1.17
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet (2009) 1.16
Axonopathy in an APP/PS1 transgenic mouse model of Alzheimer's disease. Acta Neuropathol (2006) 1.16
Minimal important differences for interpreting health-related quality of life scores from the EORTC QLQ-C30 in lung cancer patients participating in randomized controlled trials. Support Care Cancer (2010) 1.15
Morphologic and immunophenotypic properties of neoplastic cells in a case of mast cell sarcoma. Am J Surg Pathol (2003) 1.14
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. J Neurol (2013) 1.14
Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Trends Endocrinol Metab (2005) 1.13
Augmentation of left ventricular contractility by cardiac sympathetic neural stimulation. Circulation (2010) 1.12
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Hum Mol Genet (2004) 1.12
Post-mortem forensic neuroimaging: correlation of MSCT and MRI findings with autopsy results. Forensic Sci Int (2007) 1.11
Age-dependent axonal degeneration in an Alzheimer mouse model. Neurobiol Aging (2006) 1.10
A global analysis of multitrial data investigating quality of life and symptoms as prognostic factors for survival in different tumor sites. Cancer (2013) 1.10
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Hum Genet (2012) 1.09
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. Am J Med Genet A (2007) 1.09
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol (2007) 1.08
In vitro assessment of axonal growth using dorsal root ganglia explants in a novel three-dimensional collagen matrix. Tissue Eng (2007) 1.07
Ablation of Dicer from murine Schwann cells increases their proliferation while blocking myelination. PLoS One (2010) 1.07
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am J Hum Genet (2013) 1.06
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. Eur J Hum Genet (2007) 1.06
Dexmedetomidine is neuroprotective in an in vitro model for traumatic brain injury. BMC Neurol (2012) 1.05
HER2 in brain metastases: issues of concordance, survival, and treatment. J Clin Oncol (2002) 1.05
CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly. Cereb Cortex (2012) 1.03
Head and neck paragangliomas: Report of 175 patients (1989-2010). Head Neck (2011) 1.03
Differential endocytic sorting of p75NTR and TrkA in response to NGF: a role for late endosomes in TrkA trafficking. Mol Cell Neurosci (2005) 1.02
Propofol: neuroprotection in an in vitro model of traumatic brain injury. Crit Care (2009) 1.01
Diagnostic challenge and therapeutic dilemma in necrotizing myopathy. Neurology (2013) 1.01
Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males. Fertil Steril (2006) 1.01
The angiotensin-calcineurin-NFAT pathway mediates stretch-induced up-regulation of matrix metalloproteinases-2/-9 in atrial myocytes. Basic Res Cardiol (2009) 1.01
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies. Am J Med Genet A (2004) 1.01
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. Hum Mol Genet (2013) 1.01
Clinical and neuropathological study about the neurotization of the suprascapular nerve in obstetric brachial plexus lesions. J Brachial Plex Peripher Nerve Inj (2009) 1.01
The role of microstructured and interconnected pore channels in a collagen-based nerve guide on axonal regeneration in peripheral nerves. Biomaterials (2011) 1.01
Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy. Nat Neurosci (2013) 1.01
Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol (2003) 1.00
In vitro cell alignment obtained with a Schwann cell enriched microstructured nerve guide with longitudinal guidance channels. Biomaterials (2008) 0.99
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol Cell Biol (2006) 0.99
Signalling pathways leading to neuroblastoma differentiation after serum withdrawal: HDL blocks neuroblastoma differentiation by inhibition of EGFR. Oncogene (2005) 0.99
Cancer-related fatigue: epidemiology, pathogenesis, diagnosis, and treatment. Dtsch Arztebl Int (2012) 0.99
Role for CD74 and CXCR4 in clathrin-dependent endocytosis of the cytokine MIF. Eur J Cell Biol (2011) 0.99
The dark side of the NGF family: neurotrophins in neoplasias. Brain Pathol (2006) 0.98
Acetylcholine as an age-dependent non-neuronal source in the heart. Auton Neurosci (2010) 0.98
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. PLoS One (2013) 0.98
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. J Pediatr (2007) 0.97
Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP. Muscle Nerve (2013) 0.97