PubRank

Robert H Brown

Author PubWeight™ 211.98‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci 2006 6.53
2 Mutant dynactin in motor neuron disease. Nat Genet 2003 5.28
3 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009 4.38
4 Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS. Nat Neurosci 2010 4.25
5 ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet 2006 3.88
6 dSarm/Sarm1 is required for activation of an injury-induced axon death pathway. Science 2012 3.72
7 Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010 3.61
8 XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy. Genes Dev 2009 3.03
9 Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 2003 3.00
10 Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. Hum Mol Genet 2010 2.75
11 Axonal transport defects in neurodegenerative diseases. J Neurosci 2009 2.74
12 EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med 2012 2.65
13 Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria. Neuron 2004 2.53
14 Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell 2010 2.42
15 Decreased metallation and activity in subsets of mutant superoxide dismutases associated with familial amyotrophic lateral sclerosis. J Biol Chem 2002 2.34
16 Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Hum Mol Genet 2004 2.32
17 T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS. Proc Natl Acad Sci U S A 2008 2.26
18 Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 2009 2.22
19 Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J Clin Invest 2011 2.08
20 Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 2012 2.08
21 Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 2009 2.03
22 A yeast model of FUS/TLS-dependent cytotoxicity. PLoS Biol 2011 1.95
23 Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem 2010 1.93
24 The effect of HIV infection on longitudinal lung function decline among IDUs: a prospective cohort. AIDS 2013 1.92
25 Sodium phenylbutyrate prolongs survival and regulates expression of anti-apoptotic genes in transgenic amyotrophic lateral sclerosis mice. J Neurochem 2005 1.91
26 Proteomic profiling of cerebrospinal fluid identifies biomarkers for amyotrophic lateral sclerosis. J Neurochem 2005 1.91
27 Targeting Nrf2 signaling improves bacterial clearance by alveolar macrophages in patients with COPD and in a mouse model. Sci Transl Med 2011 1.87
28 Dysferlin in membrane trafficking and patch repair. Traffic 2007 1.82
29 The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet 2012 1.71
30 Familial amyotrophic lateral sclerosis-associated mutations decrease the thermal stability of distinctly metallated species of human copper/zinc superoxide dismutase. J Biol Chem 2002 1.69
31 A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am J Hum Genet 2001 1.65
32 Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord 2003 1.65
33 Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet 2003 1.56
34 Negative pressure pulmonary edema following bronchospasm. Chest 2011 1.55
35 Amyotrophic lateral sclerosis: Problems and prospects. Ann Neurol 2013 1.53
36 Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. Proc Natl Acad Sci U S A 2009 1.49
37 Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet 2008 1.46
38 Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol 2011 1.45
39 Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1. J Neurosci 2009 1.44
40 An intersubunit disulfide bond prevents in vitro aggregation of a superoxide dismutase-1 mutant linked to familial amytrophic lateral sclerosis. Biochemistry 2004 1.43
41 Lung Density Changes With Growth and Inflation. Chest 2015 1.42
42 Neonatal neuronal circuitry shows hyperexcitable disturbance in a mouse model of the adult-onset neurodegenerative disease amyotrophic lateral sclerosis. J Neurosci 2008 1.39
43 Small-molecule-mediated stabilization of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants against unfolding and aggregation. Proc Natl Acad Sci U S A 2005 1.36
44 Case records of the Massachusetts General Hospital. Case 22-2006--a 77-year-old man with a rapidly progressive gait disorder. N Engl J Med 2006 1.36
45 Emerging mechanisms of molecular pathology in ALS. J Clin Invest 2015 1.32
46 Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. Brain Pathol 2010 1.31
47 Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking. Hum Mol Genet 2005 1.31
48 ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2. Hum Mol Genet 2010 1.31
49 Compositional maps of Saturn's moon Phoebe from imaging spectroscopy. Nature 2005 1.31
50 Metabolomic analysis and signatures in motor neuron disease. Metabolomics 2005 1.31
51 Corticospinal motor neurons and related subcerebral projection neurons undergo early and specific neurodegeneration in hSOD1G⁹³A transgenic ALS mice. J Neurosci 2011 1.29
52 Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy. Hum Mol Genet 2005 1.29
53 Caspase-3 cleaves and inactivates the glutamate transporter EAAT2. J Biol Chem 2006 1.21
54 Paraoxonase gene mutations in amyotrophic lateral sclerosis. Ann Neurol 2010 1.20
55 The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci. PLoS One 2009 1.19
56 Association between obstructive lung disease and markers of HIV infection in a high-risk cohort. Thorax 2011 1.16
57 RNA metabolism and the pathogenesis of motor neuron diseases. Trends Neurosci 2010 1.15
58 Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest 2002 1.14
59 Molecular signature of late-stage human ALS revealed by expression profiling of postmortem spinal cord gray matter. Physiol Genomics 2004 1.14
60 Decreased pulmonary vascular permeability in aquaporin-1-null humans. Proc Natl Acad Sci U S A 2002 1.13
61 Multimodal actions of neural stem cells in a mouse model of ALS: a meta-analysis. Sci Transl Med 2012 1.10
62 Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. PLoS One 2012 1.10
63 Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet 2011 1.09
64 Analysis of factors that modify susceptibility and rate of progression in amyotrophic lateral sclerosis (ALS). Amyotroph Lateral Scler 2006 1.08
65 Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 2014 1.08
66 RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells. Proc Natl Acad Sci U S A 2004 1.07
67 Phase 2 study of sodium phenylbutyrate in ALS. Amyotroph Lateral Scler 2009 1.05
68 Motor unit number estimation predicts disease onset and survival in a transgenic mouse model of amyotrophic lateral sclerosis. Muscle Nerve 2006 1.04
69 Arimoclomol at dosages up to 300 mg/day is well tolerated and safe in amyotrophic lateral sclerosis. Muscle Nerve 2008 1.04
70 Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness. J Clin Invest 2008 1.03
71 Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis. Hum Mol Genet 2013 1.02
72 A common haplotype within the PON1 promoter region is associated with sporadic ALS. Amyotroph Lateral Scler 2008 1.02
73 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging 2012 1.02
74 Comparison of incremental with multipoint MUNE methods in transgenic ALS mice. Muscle Nerve 2002 1.02
75 Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis. Neurogenetics 2004 1.02
76 Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression. J Appl Physiol (1985) 2010 1.02
77 Bronchodilation response to deep inspirations in asthma is dependent on airway distensibility and air trapping. J Appl Physiol (1985) 2010 1.00
78 Human umbilical cord blood cells differentiate into muscle in sjl muscular dystrophy mice. Stem Cells 2004 1.00
79 VEGF increases blood-brain barrier permeability to Evans blue dye and tetanus toxin fragment C but not adeno-associated virus in ALS mice. Brain Res 2008 1.00
80 Cytotoxicity of botulinum neurotoxins reveals a direct role of syntaxin 1 and SNAP-25 in neuron survival. Nat Commun 2013 0.99
81 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2013 0.98
82 Mutant SOD1-expressing astrocytes release toxic factors that trigger motoneuron death by inducing hyperexcitability. J Neurophysiol 2013 0.98
83 Inhibition of fast axonal transport by pathogenic SOD1 involves activation of p38 MAP kinase. PLoS One 2013 0.97
84 Temperature changes and energy inputs in giant planet atmospheres: what we are learning from H3+. Philos Trans A Math Phys Eng Sci 2012 0.97
85 A caspase-3-cleaved fragment of the glial glutamate transporter EAAT2 is sumoylated and targeted to promyelocytic leukemia nuclear bodies in mutant SOD1-linked amyotrophic lateral sclerosis. J Biol Chem 2007 0.96
86 Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1. Hum Mol Genet 2013 0.96
87 Genetic ablation of NMDA receptor subunit NR3B in mouse reveals motoneuronal and nonmotoneuronal phenotypes. Eur J Neurosci 2007 0.95
88 Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS One 2012 0.95
89 Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality. Neurogenetics 2007 0.95
90 Racial differences in CT phenotypes in COPD. COPD 2013 0.95
91 Possible tropical lakes on Titan from observations of dark terrain. Nature 2012 0.95
92 Increased affinity for copper mediated by cysteine 111 in forms of mutant superoxide dismutase 1 linked to amyotrophic lateral sclerosis. Free Radic Biol Med 2007 0.95
93 Dysferlin overexpression in skeletal muscle produces a progressive myopathy. Ann Neurol 2010 0.95
94 Prophylactic creatine administration mediates neuroprotection in cerebral ischemia in mice. J Neurosci 2004 0.94
95 Global circulation as the main source of cloud activity on Titan. Nature 2009 0.92
96 Supranormal expiratory airflow after bilateral lung transplantation is associated with improved survival. Am J Respir Crit Care Med 2010 0.92
97 A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet 2010 0.92
98 Tetanus toxin C fragment-conjugated nanoparticles for targeted drug delivery to neurons. Biomaterials 2007 0.91
99 Ro5-4864 promotes neonatal motor neuron survival and nerve regeneration in adult rats. Eur J Neurosci 2008 0.91
100 The airway response to deep inspirations decreases with COPD severity and is associated with airway distensibility assessed by computed tomography. J Appl Physiol (1985) 2008 0.90
101 A 5-micron-bright spot on Titan: evidence for surface diversity. Science 2005 0.90
102 Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS. Amyotroph Lateral Scler 2008 0.90
103 ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet 2013 0.90
104 IGF-1:tetanus toxin fragment C fusion protein improves delivery of IGF-1 to spinal cord but fails to prolong survival of ALS mice. Brain Res 2009 0.89
105 Serum ferritin and metal levels as risk factors for amyotrophic lateral sclerosis. Open Neurol J 2008 0.89
106 Assessment of heterogeneous airway constriction in dogs: a structure-function analysis. J Appl Physiol (1985) 2008 0.88
107 Complex structure within Saturn's infrared aurora. Nature 2008 0.88
108 Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brains. Acta Neuropathol 2007 0.88
109 Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology 2012 0.88
110 Emerging mechanisms of molecular pathology in ALS. J Clin Invest 2015 0.87
111 Post-translational modification by cysteine protects Cu/Zn-superoxide dismutase from oxidative damage. Biochemistry 2013 0.86
112 Two approaches to drug discovery in SOD1-mediated ALS. J Biomol Screen 2006 0.86
113 Effects of the alpha2-adrenoceptor agonist dexmedetomidine on bronchoconstriction in dogs. Anesthesiology 2004 0.86
114 Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress. Angiogenesis 2012 0.85
115 Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis. Neurobiol Dis 2005 0.84
116 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Ann Neurol 2014 0.83
117 Dysferlinopathies. Handb Clin Neurol 2011 0.83
118 Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. PLoS One 2007 0.83
119 Screening for inhibitors of the SOD1 gene promoter: pyrimethamine does not reduce SOD1 levels in cell and animal models. Neurosci Lett 2010 0.83
120 Recirculation of inhaled xenon does not alter lung CT density. Acad Radiol 2007 0.82
121 Mutational analysis of TARDBP in neurodegenerative diseases. Neurobiol Aging 2009 0.82
122 Tetanus toxin fragment C fusion facilitates protein delivery to CNS neurons from cerebrospinal fluid in mice. J Neurochem 2005 0.82
123 A phase 3, multicenter, randomized, double-blind, placebo-controlled, safety, tolerability, and efficacy study of Xtampza ER in patients with moderate-to-severe chronic low back pain. Pain 2015 0.81
124 No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach. Amyotroph Lateral Scler 2006 0.81
125 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2008 0.81
126 ATF3 expression improves motor function in the ALS mouse model by promoting motor neuron survival and retaining muscle innervation. Proc Natl Acad Sci U S A 2014 0.81
127 Anti-superoxide dismutase antibodies are associated with survival in patients with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2011 0.81
128 Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. Neurobiol Dis 2012 0.81
129 No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Hum Mol Genet 2013 0.80
130 A survival motor neuron:tetanus toxin fragment C fusion protein for the targeted delivery of SMN protein to neurons. Brain Res 2004 0.80
131 A glial cell line-derived neurotrophic factor (GDNF):tetanus toxin fragment C protein conjugate improves delivery of GDNF to spinal cord motor neurons in mice. Brain Res 2006 0.80
132 A high-throughput screen to identify inhibitors of SOD1 transcription. Front Biosci (Elite Ed) 2012 0.80
133 Insect GDNF:TTC fusion protein improves delivery of GDNF to mouse CNS. Biochem Biophys Res Commun 2009 0.79
134 The effect of leptin on the ventilatory responseto hyperoxia. Exp Lung Res 2004 0.79
135 An official ATS conference proceedings: advances in small-animal imaging application to lung pathophysiology. Proc Am Thorac Soc 2008 0.79
136 Analysis of a genetic defect in the TATA box of the SOD1 gene in a patient with familial amyotrophic lateral sclerosis. Muscle Nerve 2007 0.79
137 Natural history and biomarkers in hereditary sensory neuropathy type 1. Muscle Nerve 2015 0.78
138 Prospective CT screening for lung cancer in a high-risk population: HIV-positive smokers. J Thorac Oncol 2014 0.78
139 Medications and laboratory parameters as prognostic factors in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2008 0.78
140 The effects of systemic lidocaine on airway tone and pulmonary function in asthmatic subjects. Anesth Analg 2007 0.78
141 Blood flow distribution within the airway wall. J Appl Physiol (1985) 2002 0.78
142 Calpainopathy and eosinophilic myositis. Ann Neurol 2006 0.78
143 Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice. Neurobiol Dis 2013 0.78
144 Phosphodiesterase V inhibition reduces airway responsiveness, but does not improve the beneficial effect of deep inspiration. Respiration 2013 0.77
145 Putting the heat on ALS. Nat Med 2004 0.77
146 A familial form of pallidoluysionigral degeneration and amyotrophic lateral sclerosis with divergent clinical presentations. J Neuropathol Exp Neurol 2007 0.77
147 Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients. Amyotroph Lateral Scler 2012 0.77
148 Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs. N Engl J Med 2006 0.77
149 A novel mutation in the spastin gene in a family with spastic paraplegia. Neurosci Lett 2002 0.76
150 Perspectives on best practices for gene therapy programs. Hum Gene Ther 2015 0.76
151 Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis. Ann Neurol 2003 0.76
152 Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis. Neurogenetics 2003 0.76
153 Recombinant GDNF: tetanus toxin fragment C fusion protein produced from insect cells. Biochem Biophys Res Commun 2009 0.76
154 Thrombopoietin is ineffective in a mouse model of motor neuron disease. Amyotroph Lateral Scler 2008 0.76
155 Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis. Neurobiol Aging 2010 0.76
156 Birth order and the genetics of amyotrophic lateral sclerosis. J Neurol 2007 0.76
157 Effects of lung inflation on airway heterogeneity during histaminergic bronchoconstriction. J Appl Physiol (1985) 2013 0.75
158 Quantifying the extent of emphysema "open the pod door, Hal". Acad Radiol 2011 0.75
159 Registration-based metrics of lung function to describe COPD: the ultimate question of life, the universe, and everything. Acad Radiol 2013 0.75
160 Serum Nogo-A levels are not elevated in amyotrophic lateral sclerosis patients. Biomarkers 2009 0.75
161 A theoretical model of the application of RF energy to the airway wall and its experimental validation. Biomed Eng Online 2010 0.75
162 Administering pharmaceuticals to latex-allergic patients from vials containing natural rubber latex closures. Am J Health Syst Pharm 2005 0.75
163 Heritable and pharmacological influences on pauses and apneas in inbred mice during anesthesia and emergence. Exp Lung Res 2006 0.75
164 What is the role of walk-in clinics? Can Fam Physician 2002 0.75
165 Mitochondrial DNA variations in Madras motor neuron disease. Mitochondrion 2013 0.75
166 Different mechanisms of atelectasis formation require different treatment strategies. Exp Lung Res 2008 0.75
167 Effects of Obesity and Leptin Deficiency on Morphine Pharmacokinetics in a Mouse Model. Anesth Analg 2016 0.75
168 DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS. Neurosci Lett 2009 0.75
169 Introduction to a special edition of Annals: Therapeutic prospects. Ann Neurol 2013 0.75
170 Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes. Neurosci Lett 2005 0.75
171 Vanadium, aluminum, magnesium and manganese are not elevated in hair samples in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2010 0.75
172 Inhibition of SOD1 expression by mitomycin C is a non-specific consequence of cellular toxicity. Neurosci Lett 2005 0.75
173 Genetic predisposition to natural rubber latex allergy differs between health care workers and high-risk patients. Anesth Analg 2010 0.75
174 Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS. Neuron 2014 0.75
175 David A. Drachman, MD (1932-2016). Neurology 2017 0.75
176 Admission Criteria for Children With Obstructive Sleep Apnea After Adenotonsillectomy: Considerations for Cost. J Clin Sleep Med 2017 0.75