Toward precision medicine in amyotrophic lateral sclerosis.
暂无分享,去创建一个
Chun-Hui Che | Zhang-Yu Zou | Z. Zou | Chang-Yun Liu | C. Che | Huapin Huang | Chang-Yun Liu | Hua-Pin Huang | Changyun Liu
[1] A. Pestronk,et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein , 2004, Nature Genetics.
[2] O. Hardiman,et al. Neuroimage: Clinical Lessons of Als Imaging: Pitfalls and Future Directions — a Critical Review , 2022 .
[3] Carl D Langefeld,et al. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1 , 2013, Neurobiology of Aging.
[4] L. Greensmith,et al. Rodent models of amyotrophic lateral sclerosis. , 2013, Biochimica et biophysica acta.
[5] P. Andersen,et al. Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients , 2015, Journal of Neurology, Neurosurgery & Psychiatry.
[6] K. Xia,et al. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy , 2015, Neurology.
[7] Sonja W. Scholz,et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. , 2009, Human molecular genetics.
[8] M. Benatar,et al. Presymptomatic spinal cord neurometabolic findings in SOD1-positive people at risk for familial ALS , 2011, Neurology.
[9] W. Le,et al. Autophagy dysregulation in amyotrophic lateral sclerosis , 2012, Journal of the Neurological Sciences.
[10] J. Morris,et al. TDP‐43 A315T mutation in familial motor neuron disease , 2008, Annals of neurology.
[11] Christian Burkhardt,et al. Tracking motor neuron loss in a set of six muscles in amyotrophic lateral sclerosis using the Motor Unit Number Index (MUNIX): a 15-month longitudinal multicentre trial , 2015, Journal of Neurology, Neurosurgery & Psychiatry.
[12] Adriano Chiò,et al. State of play in amyotrophic lateral sclerosis genetics , 2013, Nature Neuroscience.
[13] R. Ophoff,et al. A CASE OF ALS-FTD IN A LARGE FALS PEDIGREE WITH A K17I ANG MUTATION , 2009, Neurology.
[14] E. Génin,et al. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. , 2014, Brain : a journal of neurology.
[15] Kyung‐Jin Min,et al. Autophagy regulates amyotrophic lateral sclerosis-linked fused in sarcoma-positive stress granules in neurons , 2014, Neurobiology of Aging.
[16] J. Haines,et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult onset ALS and ALS/dementia , 2011, Nature.
[17] Gene W. Yeo,et al. ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43 , 2013, Proceedings of the National Academy of Sciences.
[18] D. Ito,et al. Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS , 2011, Neurology.
[19] You-Qiang Song,et al. Abnormal diffusion tensor in nonsymptomatic familial amyotrophic lateral sclerosis with a causative superoxide dismutase 1 mutation , 2008, Journal of magnetic resonance imaging : JMRI.
[20] Takeo Kato,et al. Mutations of optineurin in amyotrophic lateral sclerosis , 2010, Nature.
[21] A Al-Chalabi,et al. Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial , 2013, The Lancet Neurology.
[22] Gene W. Yeo,et al. Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration , 2013, Proceedings of the National Academy of Sciences.
[23] L. Petrucelli,et al. Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion , 2013, Science Translational Medicine.
[24] M. Turner,et al. Are neurofilaments heading for the ALS clinic? , 2015, Journal of Neurology, Neurosurgery & Psychiatry.
[25] J. Ule,et al. Characterizing the RNA targets and position-dependent splicing regulation by TDP-43. , 2011, Nature neuroscience.
[26] Brittany N. Lasseigne,et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways , 2015, Science.
[27] Li-Huei Tsai,et al. ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects. , 2014, The Journal of clinical investigation.
[28] S. Iannaccone,et al. Spinal Muscular Atrophy: Therapeutic Strategies , 2014, Current Treatment Options in Neurology.
[29] M. Kiernan,et al. Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis. , 2008, Brain : a journal of neurology.
[30] M. Gurney,et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. , 1994, Science.
[31] L. H. van den Berg,et al. Taking a risk: a therapeutic focus on ataxin-2 in amyotrophic lateral sclerosis? , 2014, Trends in molecular medicine.
[32] S. C. Chafe,et al. Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis , 2012, Nature.
[33] S. Pereson,et al. TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration , 2010, Proceedings of the National Academy of Sciences.
[34] Michael Sendtner,et al. Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis , 2011, Nature Reviews Neurology.
[35] C. E. Pearson,et al. Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities! , 2011, PLoS genetics.
[36] John W Griffin,et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). , 2004, American journal of human genetics.
[37] Rudolf Jaenisch,et al. One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering , 2013, Cell.
[38] Nipun A. Mistry,et al. RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention , 2013, Neuron.
[39] J. Haines,et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis , 1993, Nature.
[40] P. Drapeau,et al. Pharmacological reduction of ER stress protects against TDP-43 neuronal toxicity in vivo , 2013, Neurobiology of Disease.
[41] F. Collins,et al. A new initiative on precision medicine. , 2015, The New England journal of medicine.
[42] B. Monia,et al. Antisense oligonucleotide therapy for neurodegenerative disease. , 2006, The Journal of clinical investigation.
[43] A. Chiò,et al. Extensive genetics of ALS , 2012, Neurology.
[44] P. Andersen,et al. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. , 2011, Human molecular genetics.
[45] S. Pereson,et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study , 2012, The Lancet Neurology.
[46] Ewout J N Groen,et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis , 2009, Nature Genetics.
[47] R. Jaenisch,et al. One-Step Generation of Mice Carrying Reporter and Conditional Alleles by CRISPR/Cas-Mediated Genome Engineering , 2013, Cell.
[48] M. Swash,et al. Amyotrophic lateral sclerosis: a long preclinical period? , 2014, Journal of Neurology, Neurosurgery & Psychiatry.
[49] Michael Benatar,et al. Electrical impedance myography as a biomarker to assess ALS progression , 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.
[50] L. Ferrucci,et al. UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study , 2013, Neurobiology of Aging.
[51] D. Borchelt,et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria , 1995, Neuron.
[52] P. Wong,et al. Susceptibility-weighted MRI in mild traumatic brain injury , 2015, Neurology.
[53] J. Taylor,et al. Multisystem proteinopathy , 2015, Neurology.
[54] T. Gillingwater,et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. , 2004, American journal of human genetics.
[55] S. Ajroud‐Driss,et al. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. , 2011, Archives of neurology.
[56] Yusuke Nakamura,et al. A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese. , 2011, Human molecular genetics.
[57] Xun Hu,et al. Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 , 2009, Science.
[58] A. Chiò,et al. Epidemiology of ALS in Italy , 2009, Neurology.
[59] J. McLaurin,et al. Targeting of Monomer/Misfolded SOD1 as a Therapeutic Strategy for Amyotrophic Lateral Sclerosis , 2012, The Journal of Neuroscience.
[60] A. Southwell,et al. Personalized gene silencing therapeutics for Huntington disease , 2014, Clinical genetics.
[61] R. Miller,et al. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). , 2003, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.
[62] I. Bozzoni,et al. ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cell-derived motoneurons , 2015, Disease Models & Mechanisms.
[63] T. Hortobágyi,et al. Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion , 2012, Acta Neuropathologica.
[64] G. Rouleau,et al. Exome sequencing reveals SPG11 mutations causing juvenile ALS , 2012, Neurobiology of Aging.
[65] Lorne Zinman,et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis , 2014, Nature Neuroscience.
[66] F. Al-Mohanna,et al. A mutation in sigma‐1 receptor causes juvenile amyotrophic lateral sclerosis , 2011, Annals of neurology.
[67] Gene W. Yeo,et al. ALS-causative mutations in FUS/TLS confer gain- and loss-of-function by altered association with SMN and U1-snRNP , 2015, Nature Communications.
[68] R. Martinez,et al. A cellular model for sporadic ALS using patient-derived induced pluripotent stem cells , 2013, Molecular and Cellular Neuroscience.
[69] Mamede de Carvalho,et al. Motor Unit Number Index (MUNIX): Reference values of five different muscles in healthy subjects from a multi-centre study , 2011, Clinical Neurophysiology.
[70] Gene W. Yeo,et al. Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43 , 2011, Nature Neuroscience.
[71] Frank Baas,et al. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis , 2008, Nature Genetics.
[72] Michael Benatar,et al. Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS , 2013, Nature.
[73] M. P. van den Heuvel,et al. Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers , 2015, Neurology.
[74] M. Benatar,et al. Motor neuron involvement in multisystem proteinopathy , 2013, Neurology.
[75] Holger Hummerich,et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia , 2005, Nature Genetics.
[76] A. Al-Chalabi,et al. The epidemiology of ALS: a conspiracy of genes, environment and time , 2013, Nature Reviews Neurology.
[77] W. Le,et al. MTOR-independent, autophagic enhancer trehalose prolongs motor neuron survival and ameliorates the autophagic flux defect in a mouse model of amyotrophic lateral sclerosis , 2014, Autophagy.
[78] W. Robberecht,et al. The phenotypic variability of amyotrophic lateral sclerosis , 2014, Nature Reviews Neurology.
[79] B. McConkey,et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis , 2008, Nature Genetics.
[80] A. Caccamo,et al. Rapamycin Rescues TDP-43 Mislocalization and the Associated Low Molecular Mass Neurofilament Instability , 2009, The Journal of Biological Chemistry.
[81] Claire L. Simpson,et al. Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration , 2008, Human molecular genetics.
[82] A. Chiò,et al. Prevalence of SOD1 mutations in the Italian ALS population , 2008, Neurology.
[83] K. Tsai,et al. Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43 , 2012, Proceedings of the National Academy of Sciences.
[84] G. Nicholson,et al. Detection of preclinical motor neurone loss in SOD1 mutation carriers using motor unit number estimation , 2002, Journal of neurology, neurosurgery, and psychiatry.
[85] M. Thun,et al. Smoking and risk of amyotrophic lateral sclerosis: a pooled analysis of 5 prospective cohorts. , 2011, Archives of neurology.
[86] C. Cheroni,et al. Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: Implication for protein aggregation and immune response , 2012, Progress in Neurobiology.
[87] B. Dubois,et al. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2 , 2011, Neurology.
[88] Robert H. Brown,et al. Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. , 2010, Human molecular genetics.
[89] A. Farmer,et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study , 2010, The Lancet Neurology.
[90] Wim Robberecht,et al. The changing scene of amyotrophic lateral sclerosis , 2013, Nature Reviews Neuroscience.
[91] Patrizia Sola,et al. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS , 2011, Neuron.
[92] Kevin F. Bieniek,et al. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits , 2015, Science.
[93] S. Cronin,et al. Ethnic variation in the incidence of ALS , 2007, Neurology.
[94] M. Morita,et al. ZNF512B gene is a prognostic factor in patients with amyotrophic lateral sclerosis , 2013, Journal of the Neurological Sciences.
[95] D. Borchelt,et al. ALS-Linked SOD1 Mutant G85R Mediates Damage to Astrocytes and Promotes Rapidly Progressive Disease with SOD1-Containing Inclusions , 1997, Neuron.
[96] Robert H. Brown,et al. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. , 2009, American journal of human genetics.
[97] A. Pestronk,et al. An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study , 2013, The Lancet Neurology.
[98] Xun Hu,et al. TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis , 2008, Science.
[99] David Heckerman,et al. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD , 2011, Neuron.
[100] Bruce L. Miller,et al. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS , 2011, Neuron.
[101] S. Ennis,et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis , 2006, Nature Genetics.
[102] E. Buratti,et al. Targeting RNA Binding Proteins Involved in Neurodegeneration , 2013, Journal of biomolecular screening.
[103] T. Montine,et al. Precision medicine: Clarity for the clinical and biological complexity of Alzheimer’s and Parkinson’s diseases , 2015, The Journal of experimental medicine.
[104] J. Collinge,et al. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B) , 2006, Neurology.
[105] J. Hodges,et al. FTD and ALS—translating mouse studies into clinical trials , 2015, Nature Reviews Neurology.
[106] Le Cong,et al. Multiplex Genome Engineering Using CRISPR/Cas Systems , 2013, Science.
[107] John Q. Trojanowski,et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS , 2010, Nature.
[108] Martin R. Turner,et al. Biomarkers in amyotrophic lateral sclerosis: opportunities and limitations , 2011, Nature Reviews Neurology.
[109] Michael Benatar,et al. Electrical impedance myography correlates with standard measures of Als severity , 2014, Muscle & nerve.
[110] E. Beghi,et al. Incidence of amyotrophic lateral sclerosis in Europe , 2009, Journal of Neurology, Neurosurgery & Psychiatry.
[111] Anders Fuglsang-Frederiksen,et al. MUNIX and incremental stimulation MUNE in ALS patients and control subjects , 2013, Clinical Neurophysiology.
[112] J L Haines,et al. Supporting Online Material Materials and Methods Figs. S1 to S7 Tables S1 to S4 References Mutations in the Fus/tls Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis , 2022 .
[113] C. Hetz,et al. Trehalose delays the progression of amyotrophic lateral sclerosis by enhancing autophagy in motoneurons , 2013, Autophagy.