Robert H. Jr. Brown
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Robert H. Jr. Brownbiology Degrees
Biology
#12208
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#15669
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Genetics
#1335
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#1437
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Molecular Biology
#1958
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#1989
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Neuroscience
#2033
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#2089
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Biology
Robert H. Jr. Brown's Degrees
- PhD Genetics Stanford University
Why Is Robert H. Jr. Brown Influential?
(Suggest an Edit or Addition)Robert H. Jr. Brown's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis (1993) (6694)
- Decoding ALS: from genes to mechanism (2016) (1331)
- Molecular biology of amyotrophic lateral sclerosis: insights from genetics (2006) (1123)
- Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways (2015) (816)
- Evidence of Increased Oxidative Damage in Both Sporadic and Familial Amyotrophic Lateral Sclerosis (1997) (801)
- Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS (2010) (666)
- ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis (2006) (658)
- Superoxide Dismutase Activity, Oxidative Damage, and Mitochondrial Energy Metabolism in Familial and Sporadic Amyotrophic Lateral Sclerosis (1993) (610)
- Increased 3‐nitrotyrosine in both sporadic and familial amyotrophic lateral sclerosis (1997) (602)
- Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis (2012) (547)
- Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons. (2014) (545)
- dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway (2012) (526)
- XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy. (2009) (509)
- Amyotrophic Lateral Sclerosis-Associated SOD1 Mutant Proteins Bind and Aggregate with Bcl-2 in Spinal Cord Mitochondria (2004) (505)
- Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. (2010) (484)
- A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 (2001) (460)
- Amyotrophic Lateral Sclerosis. (2017) (455)
- Axonal Transport Defects in Neurodegenerative Diseases (2009) (434)
- Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis (2016) (424)
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
- Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1. (2014) (384)
- Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. (2009) (382)
- Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis (2009) (358)
- Decreased Metallation and Activity in Subsets of Mutant Superoxide Dismutases Associated with Familial Amyotrophic Lateral Sclerosis* 210 (2002) (344)
- Rats Expressing Human Cytosolic Copper–Zinc Superoxide Dismutase Transgenes with Amyotrophic Lateral Sclerosis: Associated Mutations Develop Motor Neuron Disease (2001) (327)
- SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter (1999) (326)
- Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration (2008) (274)
- EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans (2012) (273)
- SPTLC1 is mutated in hereditary sensory neuropathy, type 1 (2001) (272)
- Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. (2003) (269)
- Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS (2014) (262)
- Emerging mechanisms of molecular pathology in ALS. (2015) (261)
- Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study (2010) (247)
- Familial Amyotrophic Lateral Sclerosis-associated Mutations Decrease the Thermal Stability of Distinctly Metallated Species of Human Copper/Zinc Superoxide Dismutase* (2002) (230)
- Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice (2015) (224)
- Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35 (1994) (217)
- The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder (2012) (213)
- Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities (2009) (203)
- Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis (2009) (197)
- Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis (2017) (196)
- NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (2016) (195)
- A Yeast Model of FUS/TLS-Dependent Cytotoxicity (2011) (195)
- Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis (2011) (184)
- Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. (2004) (181)
- Amyotrophic Lateral Sclerosis-linked Glutamate Transporter Mutant Has Impaired Glutamate Clearance Capacity* (2001) (173)
- Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. (2011) (167)
- Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis (2017) (167)
- CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia (2016) (160)
- A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. (2002) (160)
- Corticospinal Motor Neurons and Related Subcerebral Projection Neurons Undergo Early and Specific Neurodegeneration in hSOD1G93A Transgenic ALS Mice (2011) (153)
- Small-molecule-mediated stabilization of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants against unfolding and aggregation. (2005) (152)
- Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. (2003) (152)
- TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD (2018) (148)
- Metabolic Dysfunction in Familial, but Not Sporadic, Amyotrophic Lateral Sclerosis (1998) (142)
- Amyotrophic lateral sclerosis: Problems and prospects (2013) (141)
- Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis (2014) (141)
- Attenuated traumatic axonal injury and improved functional outcome after traumatic brain injury in mice lacking Sarm1. (2016) (140)
- Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking. (2006) (139)
- Caspase-3 Cleaves and Inactivates the Glutamate Transporter EAAT2* (2006) (138)
- ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2 (2010) (134)
- Prophylactic Creatine Administration Mediates Neuroprotection in Cerebral Ischemia in Mice (2004) (126)
- An intersubunit disulfide bond prevents in vitro aggregation of a superoxide dismutase-1 mutant linked to familial amytrophic lateral sclerosis. (2004) (126)
- Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis (1998) (123)
- Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. (2011) (123)
- A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. (2014) (121)
- ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. (2013) (114)
- Analysis of factors that modify susceptibility and rate of progression in amyotrophic lateral sclerosis (ALS) (2006) (108)
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (104)
- SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter (1999) (103)
- Multimodal Actions of Neural Stem Cells in a Mouse Model of ALS: A Meta-Analysis (2012) (102)
- Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1 (2013) (101)
- SOD1 Suppression with Adeno-Associated Virus and MicroRNA in Familial ALS. (2020) (99)
- Mutant SOD1-expressing astrocytes release toxic factors that trigger motoneuron death by inducing hyperexcitability. (2013) (98)
- Novel mutations support a role for Profilin 1 in the pathogenesis of ALS (2015) (97)
- Inhibition of Fast Axonal Transport by Pathogenic SOD1 Involves Activation of p38 MAP Kinase (2013) (97)
- ALS‐linked protein disulfide isomerase variants cause motor dysfunction (2016) (87)
- Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. (2002) (86)
- Apolipoprotein E ϵ4 allele is not associated with earlier age at onset in amyotrophic lateral sclerosis (1995) (83)
- 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* (2007) (82)
- Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis. (2014) (82)
- Overexpression of the Wild-Type SPT1 Subunit Lowers Desoxysphingolipid Levels and Rescues the Phenotype of HSAN1 (2009) (82)
- The distinct genetic pattern of ALS in Turkey and novel mutations (2015) (82)
- Genetics of Amyotrophic Lateral Sclerosis. (2018) (81)
- Adeno‐associated virus–delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model (2016) (76)
- Therapeutic rAAVrh10 Mediated SOD1 Silencing in Adult SOD1G93A Mice and Nonhuman Primates (2015) (74)
- Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis (2004) (73)
- Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity (2016) (73)
- Paraoxonase gene mutations in amyotrophic lateral sclerosis (2010) (72)
- Cytotoxicity of Botulinum Neurotoxins Reveals a Direct Role of Syntaxin 1 and SNAP-25 in Neuron Survival (2013) (71)
- Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients. (2015) (66)
- Homologous Recombination Mediates Functional Recovery of Dysferlin Deficiency following AAV5 Gene Transfer (2012) (65)
- Superoxide dismutase in familial amyotrophic lateral sclerosis: models for gain of function (1995) (65)
- Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis (2018) (64)
- NurOwn, phase 2, randomized, clinical trial in patients with ALS (2019) (64)
- A randomized trial of mexiletine in ALS (2016) (64)
- Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1 (2019) (64)
- RNA metabolism and the pathogenesis of motor neuron diseases (2010) (64)
- RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells. (2004) (64)
- Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease (2016) (64)
- Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy. (2005) (61)
- ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function (2018) (60)
- Mutational analysis of TARDBP in neurodegenerative diseases (2011) (60)
- Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis (2021) (59)
- Identification of three novel mutations in the gene for Cu Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis (1995) (58)
- Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. (2016) (58)
- Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis (2012) (57)
- Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis (1996) (56)
- C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis (2014) (56)
- Age-Dependent TDP-43-Mediated Motor Neuron Degeneration Requires GSK3, hat-trick, and xmas-2 (2015) (55)
- Motor unit number estimation predicts disease onset and survival in a transgenic mouse model of amyotrophic lateral sclerosis (2006) (54)
- Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness. (2008) (54)
- A large genome scan for rare CNVs in amyotrophic lateral sclerosis. (2010) (53)
- Safe and effective superoxide dismutase 1 silencing using artificial microRNA in macaques (2018) (53)
- Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS (2012) (52)
- The Role of Copy Number Variation in Susceptibility to Amyotrophic Lateral Sclerosis: Genome-Wide Association Study and Comparison with Published Loci (2009) (52)
- Increased affinity for copper mediated by cysteine 111 in forms of mutant superoxide dismutase 1 linked to amyotrophic lateral sclerosis. (2007) (52)
- Silencing strategies for therapy of SOD1-mediated ALS (2017) (50)
- Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress (2013) (49)
- A common haplotype within the PON1 promoter region is associated with sporadic ALS (2008) (47)
- Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression. (2010) (45)
- Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis (1998) (45)
- Loss of Sarm1 does not suppress motor neuron degeneration in the SOD1G93A mouse model of amyotrophic lateral sclerosis (2018) (43)
- Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis (2003) (41)
- Longitudinal biomarkers in amyotrophic lateral sclerosis (2020) (41)
- Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
- Post-translational modification by cysteine protects Cu/Zn-superoxide dismutase from oxidative damage. (2013) (40)
- Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS (2014) (39)
- Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis (2006) (38)
- Amyotrophic Lateral Sclerosis: Review (2015) (37)
- Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brains (2007) (36)
- Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS (2008) (35)
- Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models (2021) (34)
- Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide (2021) (34)
- Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis (2018) (33)
- Cortical Spreading Depression Denotes Concussion Injury. (2019) (32)
- 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 (2008) (32)
- Chapter 7 – Dysferlinopathies (2011) (29)
- Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis (1995) (29)
- Two Approaches to Drug Discovery in SOD1-Mediated ALS (2006) (28)
- Anti-superoxide dismutase antibodies are associated with survival in patients with sporadic amyotrophic lateral sclerosis (2011) (27)
- Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
- An open label study of a novel immunosuppression intervention for the treatment of amyotrophic lateral sclerosis (2018) (26)
- C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis (2014) (26)
- No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. (2014) (26)
- Natural history and biomarkers in hereditary sensory neuropathy type 1 (2015) (26)
- Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis (2003) (24)
- A randomized placebo‐controlled phase 3 study of mesenchymal stem cells induced to secrete high levels of neurotrophic factors in amyotrophic lateral sclerosis (2021) (22)
- Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers (2019) (22)
- Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology (2019) (21)
- An update on superoxide dismutase 1 in familial amyotrophic lateral sclerosis (1996) (21)
- Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS (2012) (20)
- A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides (2014) (20)
- A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD (2017) (20)
- Medications and laboratory parameters as prognostic factors in amyotrophic lateral sclerosis (2008) (19)
- Screening for inhibitors of the SOD1 gene promoter: Pyrimethamine does not reduce SOD1 levels in cell and animal models (2010) (19)
- Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients (2012) (19)
- A Reinnervating MicroRNA (2009) (19)
- Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality (2007) (18)
- Genetic ablation of phospholipase C delta 1 increases survival in SOD1G93A mice (2013) (18)
- Intralingual and Intrapleural AAV Gene Therapy Prolongs Survival in a SOD1 ALS Mouse Model (2019) (18)
- Emerging mechanisms of molecular pathology in ALS. (2015) (18)
- Therapeutic rAAVrh 10 Mediated SOD 1 Silencing in Adult SOD 1 ( G 93 A ) Mice and Nonhuman Primates (2017) (17)
- Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery (2007) (16)
- Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation (2019) (15)
- A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS (2019) (14)
- A high-throughput screen to identify inhibitors of SOD1 transcription. (2012) (14)
- Nucleic Acid Therapeutics for Neurological Diseases (2019) (14)
- Perspectives on best practices for gene therapy programs. (2015) (13)
- Mutations in Cu/Zn superoxide dismutase (SOD1) are associated with familial amyotrophic lateral sclerosis (ALS) (1993) (12)
- Endogenous retroviruses in ALS: A reawakening? (2015) (11)
- Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis (2003) (10)
- Amyotrophic Lateral Sclerosis. (2017) (10)
- No association of DYNC1H1 with sporadic ALS in a case‐control study of a northern European derived population: A tagging SNP approach (2006) (9)
- Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis (2012) (9)
- Mutant Profilin 1 transgenic mice recapitulate cardinal features of motor neuron disease (2017) (9)
- Superoxide dismutase and oxygen radical neurotoxicity (1996) (8)
- Finding a Treatment for ALS — Will Gene Editing Cut It? (2018) (8)
- Amyotrophic Lateral Sclerosis and Related Motor Neuron Diseases (1998) (8)
- Excessive release of inorganic polyphosphate by ALS/FTD astrocytes causes non-cell-autonomous toxicity to motoneurons (2022) (8)
- Quantifying and Mitigating Motor Phenotypes Induced by Antisense Oligonucleotides in the Central Nervous System (2021) (8)
- Genetic diversity of axon degenerative mechanisms in models of Parkinson's disease (2021) (8)
- Erratum: Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1 (Cell Stem Cell (2014) 14 (781795)) (2014) (7)
- Sodium phenylbutyrate prolongs survival and regulates expression of anti‐apoptotic genes in transgenic amyotrophic lateral sclerosis mice (2006) (7)
- The 5’-Untranslated Region of the C9orf72 mRNA Exhibits a Phylogenetic Alignment to the Cis-Aconitase Iron-Responsive Element; Novel Therapies for Amytrophic Lateral Sclerosis (2016) (7)
- DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS (2009) (6)
- Mutant SOD1 protein increases Nav1.3 channel excitability (2016) (6)
- Inhibition of SOD1 expression by mitomycin C is a non-specific consequence of cellular toxicity (2006) (6)
- Approaches to Gene Modulation Therapy for ALS (2022) (6)
- Association of a Locus in the CAMTA 1 GeneWith Survival in PatientsWith Sporadic Amyotrophic Lateral Sclerosis (2016) (6)
- Low-level overexpression of wild type TDP-43 causes late-onset, progressive neurodegeneration and paralysis in mice (2021) (6)
- Familial ALS-Associated Mutations Decrease the Thermal Stability of Distinctly Metallated Species of Human Copper/Zinc Superoxide Dismutase (2002) (5)
- BET bromodomain inhibitors PFI-1 and JQ1 are identified in an epigenetic compound screen to enhance C9ORF72 gene expression and shown to ameliorate C9ORF72-associated pathological and behavioral abnormalities in a C9ALS/FTD model (2021) (4)
- Safety and efficacy of transplantation of nurown (autologous mesenchymal stromal cells secreting neurotrophic factors) in patients with ALS: A phase 2 randomized double blind placebo controlled trial (2017) (4)
- A Familial Form of Pallidoluysionigral Degeneration and Amyotrophic Lateral Sclerosis With Divergent Clinical Presentations (2007) (4)
- AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies. (2021) (4)
- MODULATION OF CSF miRNAs IN ALS PHASE 2 STUDY PARTICIPANTS TREATED WITH MSC-NTF CELLS (NUROWN®) (S25.005) (2018) (4)
- Vanadium, aluminum, magnesium and manganese are not elevated in hair samples in amyotrophic lateral sclerosis (2010) (3)
- Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden (2017) (3)
- Defective daily temperature regulation in a mouse model of amyotrophic lateral sclerosis (2019) (3)
- Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis (2021) (3)
- Thrombopoietin is ineffective in a mouse model of motor neuron disease (2008) (3)
- Publisher Correction: TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD (2018) (3)
- Regional Collapsing of Rare Variation Implicates Specific Genic Regions in ALS (2018) (3)
- Deleterious Variants of FIG 4 , a Phosphoinositide Phosphatase , in Patients with ALS Citation (2008) (3)
- NurOwn® Phase 2 ALS Trial: ALSFRS-R Improvement is Reflected in Subscale Domains (S38.002) (2018) (3)
- 290 - In vivo modulation of neurotrophic and inflammatory factors in the CSF of ALS patients treated with NurOwn (MSC NTF cells) (2017) (3)
- First-in-human AAV Gene Therapy for Tay-Sachs Disease (2021) (2)
- Potent Mixed Backbone Antisense Oligonucleotide Safety Suppressed Expression of Mutant C9ORF72 Transcripts and Polypeptides: First in Human Pilot Study (2021) (2)
- Mutant Sod1-expressing Astrocytes Release Toxic Factors That Trigger Motor Neuron Death (2013) (2)
- Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3′UTR in Amyotrophic Lateral Sclerosis (2021) (2)
- A Phase 2 Study of Mexiletine in Sporadic Amyotrophic Lateral Sclerosis (S50.004) (2015) (2)
- Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation (2019) (2)
- The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis (2001) (2)
- Single breath counting is an effective screening tool for forced vital capacity in ALS (2021) (2)
- Sequence Variants in Human Neurofilament (1996) (2)
- A RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, DELAYED-START TRIAL TO EVALUATE THE SAFETY AND EFFICACY OF L-SERINE IN SUBJECTS WITH HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 (HSAN1) (S45.001) (2017) (2)
- CAMTA 1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis (2018) (2)
- The glycinamide ribonucleotide transformylase (GART) gene is not responsible for familial amyotrophic lateral sclerosis (1993) (2)
- ASO5-1 C9ORF72 Manuscript – 05Feb2021 POTENT MIXED BACKBONE ANTISENSE OLIGONUCLEOTIDE SAFELY SUPPRESSES EXPRESSION OF MUTANT C9ORF72 TRANSCRIPTS AND POLYDIPEPTIDES: FIRST IN HUMAN PILOT STUDY (2021) (1)
- Detection of serum reverse transcriptase activity in amyotrophic lateral sclerosis patients and unaffected relatives (2004) (1)
- Mutations of the glutamate transporter gene EAAT2 do not cause the abnormal EAAT2 transcripts in patients with amyotrophic lateral sclerosis (1997) (1)
- MOLECULAR NEUROPATHOLOGY OF SOD-1 MUTANT TRANSGENIC MICE: EVIDENCE FOR NEURITIC SPROUTING AND APOPTOSIS (1997) (1)
- Amyotrophic lateral sclerosis: lessons from mouse and human genetics (2001) (1)
- The Role of mTORC1/RagGTPase and IGF1R/mTORC2/Akt Pathways and the Response of Diffuse Congenital Hyperinsulinism to Sirolimus (2014) (1)
- Protein disulfide isomerase gene variants are associated with amyotrophic lateral sclerosis (2014) (1)
- Oxidative Pathology in Amyotrophic Lateral Sclerosis (2002) (0)
- CLT-01 A systematic review of enrichment strategies for current clinical trials in ALS (2018) (0)
- amyotrophic lateral sclerosis by increasing autophagy XBP-1 deficiency in the nervous system protects against Material Supplemental (2009) (0)
- Correction for Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities, by Gongshe Han, Sita D. Gupta, Kenneth (2009) (0)
- Linkage Studies in a Large Kindred with Hereditary Sensory-Motor Neuropathy: Exclusion of the Duffy Locus on Chromosome 1 (1987) (0)
- Juvenile Amyotrophic Lateral Sclerosis (2015) (0)
- Identification of FUS/TLS gene mutation in a cohort of Italian FALS patients (2009) (0)
- University of Groningen Mapping of Gene Expression Reveals CYP 27 A 1 as a Susceptibility Gene for Sporadic (2012) (0)
- THE INVESTIGATIONAL STEREOPURE ANTISENSE OLIGONUCLEOTIDE WVE-3972-01 PREFERENTIALLY REDUCES G4C2 REPEAT-CONTAINING C9ORF72 TRANSCRIPTS: A POTENTIAL THERAPEUTIC APPROACH FOR THE TREATMENT OF FRONTOTEMPORAL DEMENTIA (2018) (0)
- Erratum to “Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes” [Neurosci. Lett. 392 (2006) 52–57] (2006) (0)
- 341. Therapeutic Approach for SOD1-ALS Using AAV9 Delivered Artificial microRNAs (2015) (0)
- Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides (2015) (0)
- Free-Radical Toxicity in Amyotrophic Lateral Sclerosis (2018) (0)
- 738. Engineered MicroRNA Silences C9ORF72 Variants in BAC Transgenic Mouse (2016) (0)
- 92. Detection and Characterization of Immune Response Against AAVrh10 Vector After Intrathecal Vector Delivery in Non-Human Primates (2015) (0)
- Neurophysiology and Intraepidermal Nerve Fiber Density in Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1) (P03.202) (2012) (0)
- Tau doesn't contribute to the pathogenesis of amyotrophic lateral sclerosis (2008) (0)
- 750 Transplantation of Human Neural Stem Cells in a New Primate Model of Motor Neuron Degeneration: An Experimental Study of Potential Cell Therapy for Amyotrophic Lateral Sclerosis (2001) (0)
- Chapter 87 – Amyotrophic Lateral Sclerosis (2015) (0)
- ALD Connect: A Patient Powered Research Network harmonizes efforts to cure Adrenoleukodystrophy (P4.054) (2015) (0)
- The Role of Common Copy Number Variation in Amyotrophic Lateral Sclerosis (ALS) (2010) (0)
- 90. Vector Biodistribution After Recombinant AAVrh10 Intrathecal Delivery in Non-Human Primates (2016) (0)
- Towards a systematic screen of cytoplasmic dynein-dynactin genes and other candidates for association with motor neuron degeneration disorders by tagging SNP analysis. (2005) (0)
- Neurodegenerative Diseases: The genetics of amyotrophic lateral sclerosis (2005) (0)
- LOCALIZATION OF MULTIPLE HISTOCHEMICAL MARKERS OF OXIDATIVE INJURY IN PROJECTION NEURONS IN ALZHEIMER CORTEX (1996) (0)
- Identification ofNew Mutations intheCu/ZnSuperoxide Dismutase GeneofPatients withFamilial Amyotrophic Lateral Sclerosis (1995) (0)
- Keynote Speaker Presentations: 5th Annual UMass Center for Clinical and Translational Research Retreat (video) (2014) (0)
- Stereopure Antisense Oligonucleotides Preferentially Knockdown G4C2 Repeat-Containing C9ORF72 Transcripts: A Potential Therapeutic Approach for the Treatment of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) (N2.002) (2018) (0)
- Compositions et méthodes de modulation de l'expression de la dysferline (2015) (0)
- Title: Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis (2016) (0)
- Successful treatment of four patients with severe hyperinsulinaemic hypoglycaemia with a novel therapy using mTOR inhibitor (2013) (0)
- ALD Connect, An All-Inclusive Consortium To Improve Care And Drug Discovery For X-Linked Adrenoleukodystrophy (P7.106) (2014) (0)
- Erratum to: Mutant SOD1 protein increases Nav1.3 channel excitability (2016) (0)
- 806 Intraspinal and Systemic Stem Cell Transplantation Delays Onset, Improves Survival in Transgenic Amyotrophic Lateral Sclerosis Mice (2001) (0)
- Amyotrophic Lateral Sclerosis and Related Motor Neuron Disorders: Lessons in Pathogenesis and Therapy From Genetics (2006) (0)
- PRRT2 related paroxysmal kinesigenic dyskinesia (PKD) (2013) (0)
- No evidence for common genetic variants shared between multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS) (2011) (0)
- Amyotrophic lateral sclerosis and neurodegeneration: possible insights from the molecular biology of aging (2021) (0)
- List of contributors (2020) (0)
- Apoptotic cell death pathways in amyotrophic lateral sclerosis: a review (2021) (0)
- Superoxide Dismutase and Oxidative Stress in Amyotrophic Lateral Sclerosis (1997) (0)
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What Schools Are Affiliated With Robert H. Jr. Brown?
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