相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The Use of Peripherally Inserted Central Catheter in Amyotrophic Lateral Sclerosis Patients at a Later Stage
Raul Juntas-Morales et al.
EUROPEAN NEUROLOGY (2017)
Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians
Jennifer Roggenbuck et al.
GENETICS IN MEDICINE (2017)
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management
Ammar Al-Chalabi et al.
NATURE REVIEWS NEUROLOGY (2017)
Riluzole 5 mg/mL oral suspension: for optimized drug delivery in amyotrophic lateral sclerosis
Ann Margaret Dyer et al.
DRUG DESIGN DEVELOPMENT AND THERAPY (2017)
Screening for cognitive dysfunction in ALS: validation of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) using age and education adjusted normative data
Marta Pinto-Grau et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2017)
National Study of Muscle Cramps in ALS in the USA
Helen E. Stephens et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2017)
Correlation between Forced Vital Capacity and Slow Vital Capacity for the assessment of respiratory involvement in Amyotrophic Lateral Sclerosis: a prospective study
Susana Pinto et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2017)
The changing picture of amyotrophic lateral sclerosis: lessons from European registers
Orla Hardiman et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2017)
Edaravone: a new treatment for ALS on the horizon?
Orla Hardiman et al.
LANCET NEUROLOGY (2017)
Pain in amyotrophic lateral sclerosis
Adriano Chio et al.
LANCET NEUROLOGY (2017)
Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial
Koji Abe et al.
LANCET NEUROLOGY (2017)
Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics
Steven Boeynaems et al.
MOLECULAR CELL (2017)
C9orf72 expansion disrupts ATM-mediated chromosomal break repair
Callum Walker et al.
NATURE NEUROSCIENCE (2017)
Benefits, pitfalls, and future design of population-based registers in neurodegenerative disease
James P. K. Rooney et al.
NEUROLOGY (2017)
Genetic testing in ALS A survey of current practices
Alice Vajda et al.
NEUROLOGY (2017)
Enhanced Bulbar Function in Amyotrophic Lateral Sclerosis: The Nuedexta Treatment Trial
Richard Smith et al.
NEUROTHERAPEUTICS (2017)
Identification of risk factors associated with onset and progression of amyotrophic lateral sclerosis using systematic review and meta-analysis
Ming-Dong Wang et al.
NEUROTOXICOLOGY (2017)
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits
Guillaume M. Hautbergue et al.
NATURE COMMUNICATIONS (2017)
Comparison of the King's and MiToS staging systems for ALS
Ton Fang et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2017)
Prognostic value of clinical and electrodiagnostic parameters at time of diagnosis in patients with amyotrophic lateral sclerosis
Wendeline Reniers et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2017)
Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria
Michael J. Strong et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2017)
Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis Neurofilament Light Chain Levels in Definite Subtypes of Disease
Alessandra Gaiani et al.
JAMA NEUROLOGY (2017)
A Cross-sectional population-based investigation into behavioral change in amyotrophic lateral sclerosis: subphenotypes, staging, cognitive predictors, and survival
Tom Burke et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2017)
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
Emmanuelle C. Genin et al.
EMBO MOLECULAR MEDICINE (2016)
Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin
Benoit Marin et al.
EUROPEAN JOURNAL OF EPIDEMIOLOGY (2016)
18F-FDG-PET correlates of cognitive impairment in ALS
Antonio Canosa et al.
NEUROLOGY (2016)
Receiving the news of a diagnosis of motor neuron disease: What does it take to make it better?
Samar M. Aoun et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2016)
Botulinum toxin-A injections vs radiotherapy for drooling in ALS
J. G. Weikamp et al.
ACTA NEUROLOGICA SCANDINAVICA (2016)
Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD
Alice Goode et al.
AUTOPHAGY (2016)
UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome
Roland Hjerpe et al.
CELL (2016)
TDP-43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons
Benjamin M. Schwenk et al.
EMBO JOURNAL (2016)
The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy
Christopher P. Webster et al.
EMBO JOURNAL (2016)
ALS/FTD-associated FUS activates GSK-3 to disrupt the VAPB-PTPIP51 interaction and ER-mitochondria associations
Radu Stoica et al.
EMBO REPORTS (2016)
Amyotrophic lateral sclerosis: a comparison of two staging systems in a population-based study
D. Ferraro et al.
EUROPEAN JOURNAL OF NEUROLOGY (2016)
Functional links between SQSTM1 and ALS2 in the pathogenesis of ALS: cumulative impact on the protection against mutant SOD1-mediated motor dysfunction in mice
Shinji Hadano et al.
HUMAN MOLECULAR GENETICS (2016)
Performance predictors of brain-computer interfaces in patients with amyotrophic lateral sclerosis
A. Geronimo et al.
JOURNAL OF NEURAL ENGINEERING (2016)
Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins
Antonia Ratti et al.
JOURNAL OF NEUROCHEMISTRY (2016)
Amyotrophic lateral sclerosis: moving towards a new classification system
Ammar Al-Chalabi et al.
LANCET NEUROLOGY (2016)
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Kevin P. Kenna et al.
NATURE GENETICS (2016)
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Wouter van Rheenen et al.
NATURE GENETICS (2016)
The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity
Wenzhang Wang et al.
NATURE MEDICINE (2016)
Active zone scaffolds differentially accumulate Unc13 isoforms to tune Ca2+ channel-vesicle coupling
Mathias A. Boehme et al.
NATURE NEUROSCIENCE (2016)
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease
Aaron R. Haeusler et al.
NATURE REVIEWS NEUROSCIENCE (2016)
Presymptomatic ALS genetic counseling and testing: Experience and recommendations
Michael Benatar et al.
NEUROLOGY (2016)
A randomized trial of mexiletine in ALS: Safety and effects on muscle cramps and progression
Michael D. Weiss et al.
NEUROLOGY (2016)
Death with dignity in Washington patients with amyotrophic lateral sclerosis
Leo H. Wang et al.
NEUROLOGY (2016)
Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons
Rodrigo Lopez-Gonzalez et al.
NEURON (2016)
Metabolic Biomarkers and Neurodegeneration: A Pathway Enrichment Analysis of Alzheimer's Disease, Parkinson's Disease, and Amyotrophic Lateral Sclerosis
Medi Kori et al.
OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY (2016)
Oligodendrocytes contribute to motor neuron death in ALS via SOD1-dependent mechanism
Laura Ferraiuolo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
ALS Mutations Disrupt Phase Separation Mediated by α-Helical Structure in the TDP-43 Low-Complexity C-Terminal Domain
Alexander E. Conicella et al.
STRUCTURE (2016)
Distinct and shared functions of ALS-associated proteins TDP-43, FUS and TAF15 revealed by multisystem analyses
Katannya Kapeli et al.
NATURE COMMUNICATIONS (2016)
Projected increase in amyotrophic lateral sclerosis from 2015 to 2040
Karissa C. Arthur et al.
NATURE COMMUNICATIONS (2016)
Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis
Benjamin Gaastra et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2016)
The selective anatomical vulnerability of ALS: 'disease-defining' and 'disease-defying' brain regions
Peter Bede et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2016)
The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair
Xiao Fang et al.
ACTA BIOCHIMICA ET BIOPHYSICA SINICA (2015)
Brain-computer interfaces in amyotrophic lateral sclerosis: A metanalysis
Mauro Marchetti et al.
CLINICAL NEUROPHYSIOLOGY (2015)
p62/SQSTM1 functions as a signaling hub and an autophagy adaptor
Yoshinori Katsuragi et al.
FEBS JOURNAL (2015)
TBK1 controls autophagosomal engulfment of polyubiquitinated mitochondria through p62/SQSTM1 phosphorylation
Gen Matsumoto et al.
HUMAN MOLECULAR GENETICS (2015)
Prognostic Role of Serum Levels of Uric Acid in Amyotrophic Lateral Sclerosis
Seong-il Oh et al.
JOURNAL OF CLINICAL NEUROLOGY (2015)
Inclusion body myositis: A review of clinical and genetic aspects, diagnostic criteria and therapeutic approaches
Frank L. Mastaglia et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2015)
Predicting prognosis in amyotrophic lateral sclerosis: a simple algorithm
Marwa Elamin et al.
JOURNAL OF NEUROLOGY (2015)
Percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis: a prospective observational study
Johannes Dorst et al.
JOURNAL OF NEUROLOGY (2015)
Caregiver burden in amyotrophic lateral sclerosis: a cross-sectional investigation of predictors
Tom Burke et al.
JOURNAL OF NEUROLOGY (2015)
Presymptomatic and longitudinal neuroimaging in neurodegeneration-from snapshots to motion picture: a systematic review
Christina Schuster et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2015)
Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study
Christopher J. McDermott et al.
LANCET NEUROLOGY (2015)
QUALITY OF LIFE IN AMYOTROPHIC LATERAL SCLEROSIS PATIENTS AND CAREGIVERS: IMPACT OF ASSISTIVE COMMUNICATION FROM EARLY STAGES
Ana Londral et al.
MUSCLE & NERVE (2015)
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport
Ke Zhang et al.
NATURE (2015)
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
Brian D. Freibaum et al.
NATURE (2015)
R loops: new modulators of genome dynamics and function
Jose M. Santos-Pereira et al.
NATURE REVIEWS GENETICS (2015)
Differences in protein quality control correlate with phenotype variability in 2 mouse models of familial amyotrophic lateral sclerosis
Marianna Marino et al.
NEUROBIOLOGY OF AGING (2015)
Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art
M. J. Walsh et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2015)
Defective Proteasome Delivery of Polyubiquitinated Proteins by Ubiquilin-2 Proteins Containing ALS Mutations
Lydia Chang et al.
PLOS ONE (2015)
A preliminary randomized trial of the mechanical insufflator-exsufflator versus breath-stacking technique in patients with amyotrophic lateral sclerosis
Muhammad K. Rafiq et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2015)
A revision of the El Escorial criteria-2015
Albert Ludolph et al.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2015)
Prion-like Mechanism in Amyotrophic Lateral Sclerosis: are Protein Aggregates the Key?
Shynrye Lee et al.
EXPERIMENTAL NEUROBIOLOGY (2015)
Development and evaluation of a clinical staging system for amyotrophic lateral sclerosis
Adriano Chio et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2015)
A multidisciplinary clinic approach improves survival in ALS: a comparative study of ALS in Ireland and Northern Ireland
James Rooney et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2015)
Patient-Perceived Outcomes and Quality of Life in ALS
Zachary Simmons
NEUROTHERAPEUTICS (2015)
Genetic Background Effects on Disease Onset and Lifespan of the Mutant Dynactin p150Glued Mouse Model of Motor Neuron Disease
Terry D. Heiman-Patterson et al.
PLOS ONE (2015)
C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis
Johnathan Cooper-Knock et al.
PLOS ONE (2015)
Functional Connectivity Changes in RestingState EEG as Potential Biomarker for Amyotrophic Lateral Sclerosis
Parameswaran Mahadeva Iyer et al.
PLOS ONE (2015)
Transcriptomic Changes Due to Cytoplasmic TDP-43 Expression Reveal Dysregulation of Histone Transcripts and Nuclear Chromatin
Alexandre Amlie-Wolf et al.
PLOS ONE (2015)
The El Escorial criteria: Strengths and weaknesses
Federica Agosta et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2015)
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
Johnathan Cooper-Knock et al.
BRAIN (2014)
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
Sylvie Bannwarth et al.
BRAIN (2014)
Cell to Cell Spreading of Misfolded Proteins as a Therapeutic Target in Motor Neuron Disease
Livia Pasquali et al.
CURRENT MEDICINAL CHEMISTRY (2014)
Population-based epidemiology of amyotrophic lateral sclerosis (ALS) in an ageing Europe - the French register of ALS in Limousin (FRALim register)
B. Marin et al.
EUROPEAN JOURNAL OF NEUROLOGY (2014)
Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models
Jordi Magrane et al.
HUMAN MOLECULAR GENETICS (2014)
Response shift recalibration and reprioritization in health-related quality of life was identified prospectively in older men with and without stroke
Ruth Barclay et al.
JOURNAL OF CLINICAL EPIDEMIOLOGY (2014)
Genetic counselling in ALS: facts, uncertainties and clinical suggestions
Adriano Chio et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2014)
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
Aaron R. Haeusler et al.
NATURE (2014)
State of play in amyotrophic lateral sclerosis genetics
Alan E. Renton et al.
NATURE NEUROSCIENCE (2014)
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
Janel O. Johnson et al.
NATURE NEUROSCIENCE (2014)
Venous thromboembolism in amyotrophic lateral sclerosis A prospective study
Matthew Gladman et al.
NEUROLOGY (2014)
Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Bradley N. Smith et al.
NEURON (2014)
Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation
Yvette C. Wong et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Mechanisms of genome instability induced by RNA-processing defects
Yujia A. Chan et al.
TRENDS IN GENETICS (2014)
Microglia centered pathogenesis in ALS: insights in cell interconnectivity
Dora Brites et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2014)
Superoxide dismutase 1 acts as a nuclear transcription factor to regulate oxidative stress resistance
Chi Kwan Tsang et al.
NATURE COMMUNICATIONS (2014)
Screening for cognition and behaviour changes in ALS
Sharon Abrahams et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2014)
RandomForest4Life: A Random Forest for predicting ALS disease progression
Torsten Hothorn et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2014)
Estimating clinical stage of amyotrophic lateral sclerosis from the ALS Functional Rating Scale
Rubika Balendra et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2014)
Amyotrophic Lateral Sclerosis Outcome Measures and the Role of Albumin and Creatinine A Population-Based Study
Adriano Chio et al.
JAMA NEUROLOGY (2014)
Lessons of ALS imaging: Pitfalls and future directions - A critical review
Peter Bede et al.
NEUROIMAGE-CLINICAL (2014)
ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19
Yuji Takahashi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Weight loss, dysphagia and supplement intake in patients with amyotrophic lateral sclerosis (ALS): impact on quality of life and therapeutic options
Sonja Koerner et al.
BMC NEUROLOGY (2013)
Oligodendrocyte dysfunction in the pathogenesis of amyotrophic lateral sclerosis
Thomas Philips et al.
BRAIN (2013)
Role of Stress Granules and RNA-Binding Proteins in Neurodegeneration: A Mini-Review
Tara Vanderweyde et al.
GERONTOLOGY (2013)
The Disease-associated r(GGGGCC)n Repeat from the C9orf72 Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures
Kaalak Reddy et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Ribonuclease/angiogenin inhibitor 1 regulates stress-induced subcellular localization of angiogenin to control growth and survival
Elio Pizzo et al.
JOURNAL OF CELL SCIENCE (2013)
Enhancing Mitochondrial Calcium Buffering Capacity Reduces Aggregation of Misfolded SOD1 and Motor Neuron Cell Death without Extending Survival in Mouse Models of Inherited Amyotrophic Lateral Sclerosis
Philippe A. Parone et al.
JOURNAL OF NEUROSCIENCE (2013)
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
Hong Joo Kim et al.
NATURE (2013)
Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis
Shin H. Kang et al.
NATURE NEUROSCIENCE (2013)
Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons
Wen-Yuan Wang et al.
NATURE NEUROSCIENCE (2013)
Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature
A. Chio et al.
NEUROEPIDEMIOLOGY (2013)
Cognitive changes predict functional decline in ALS A population-based longitudinal study
Marwa Elamin et al.
NEUROLOGY (2013)
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
Christopher J. Donnelly et al.
NEURON (2013)
Increased Neurofilament Light Chain Blood Levels in Neurodegenerative Neurological Diseases
Johanna Gaiottino et al.
PLOS ONE (2013)
ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43
Eveline S. Arnold et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
Youn-Bok Lee et al.
CELL REPORTS (2013)
Speech therapy and communication device: Impact on quality of life and mood in patients with amyotrophic lateral sclerosis
Sonja Koerner et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2013)
Is exposure to cyanobacteria an environmental risk factor for amyotrophic lateral sclerosis and other neurodegenerative diseases?
Walter G. Bradley et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2013)
Incidence of Amyotrophic Lateral Sclerosis Among American Indians and Alaska Natives
Paul H. Gordon et al.
JAMA NEUROLOGY (2013)
Incidence of amyotrophic lateral sclerosis in the Faroe Islands
P. Joensen
ACTA NEUROLOGICA SCANDINAVICA (2012)
Amyotrophic lateral sclerosis: Time for research on psychological intervention?
Francesco Pagnini et al.
AMYOTROPHIC LATERAL SCLEROSIS (2012)
EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) - revised report of an EFNS task force
Peter M. Andersen et al.
EUROPEAN JOURNAL OF NEUROLOGY (2012)
Transformation from a neuroprotective to a neurotoxic microglial phenotype in a mouse model of ALS
Bing Liao et al.
EXPERIMENTAL NEUROLOGY (2012)
VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis
Kurt J. De Vos et al.
HUMAN MOLECULAR GENETICS (2012)
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
Julien Couthouis et al.
HUMAN MOLECULAR GENETICS (2012)
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
Marka van Blitterswijk et al.
HUMAN MOLECULAR GENETICS (2012)
Non-invasive ventilation in amyotrophic lateral sclerosis: a 10 year population based study
Adriano Chio et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)
The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study
Julie Phukan et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)
Coping strategies in relation to quality of life in amyotrophic lateral sclerosis
Sebastien Montel et al.
MUSCLE & NERVE (2012)
Oligodendroglia metabolically support axons and contribute to neurodegeneration
Youngjin Lee et al.
NATURE (2012)
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Chi-Hong Wu et al.
NATURE (2012)
Endogenous TDP-43 localized to stress granules can subsequently form protein aggregates
Sarah J. Parker et al.
NEUROCHEMISTRY INTERNATIONAL (2012)
Molecular Imaging of Microglial Activation in Amyotrophic Lateral Sclerosis
Philippe Corcia et al.
PLOS ONE (2012)
Safety of home parenteral nutrition in patients with amyotrophic lateral sclerosis: A French national survey
Maya Abdelnour-Mallet et al.
AMYOTROPHIC LATERAL SCLEROSIS (2011)
The epidemiology and treatment of ALS: Focus on the heterogeneity of the disease and critical appraisal of therapeutic trials
Ettore Beghi et al.
AMYOTROPHIC LATERAL SCLEROSIS (2011)
Effect of genetic background on phenotype variability in transgenic mouse models of amyotrophic lateral sclerosis: A window of opportunity in the search for genetic modifiers
Terry D. Heiman-Patterson et al.
AMYOTROPHIC LATERAL SCLEROSIS (2011)
Proposed criteria for familial amyotrophic lateral sclerosis
Susan Byrne et al.
AMYOTROPHIC LATERAL SCLEROSIS (2011)
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis
Amr Al-Saif et al.
ANNALS OF NEUROLOGY (2011)
SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Faisal Fecto et al.
ARCHIVES OF NEUROLOGY (2011)
The Seeds of Neurodegeneration: Prion-like Spreading in ALS
Magdalini Polymenidou et al.
CELL (2011)
Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice
Lijun Wang et al.
HUMAN MOLECULAR GENETICS (2011)
Onset and spreading patterns of lower motor neuron involvements predict survival in sporadic amyotrophic lateral sclerosis
Chieko Fujimura-Kiyono et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2011)
Regulation of Oligodendrocyte Development and Myelination by Glucose and Lactate
Johanne E. Rinholm et al.
JOURNAL OF NEUROSCIENCE (2011)
Amyotrophic lateral sclerosis
Matthew C. Kiernan et al.
LANCET (2011)
Human Senataxin Resolves RNA/DNA Hybrids Formed at Transcriptional Pause Sites to Promote Xrn2-Dependent Termination
Konstantina Skourti-Stathaki et al.
MOLECULAR CELL (2011)
Energy metabolism in amyotrophic lateral sclerosis
Luc Dupuis et al.
LANCET NEUROLOGY (2011)
Botulinum Toxin A Versus B in Sialorrhea: A Prospective, Randomized, Double-Blind, Crossover Pilot Study in Patients with Amyotrophic Lateral Sclerosis or Parkinson's Disease
Arianna Guidubaldi et al.
MOVEMENT DISORDERS (2011)
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Han-Xiang Deng et al.
NATURE (2011)
Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis
Laura Ferraiuolo et al.
NATURE REVIEWS NEUROLOGY (2011)
A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient
Lucia Corrado et al.
NEUROBIOLOGY OF AGING (2011)
Selective Neuronal Vulnerability in Neurodegenerative Diseases: from Stressor Thresholds to Degeneration
Smita Saxena et al.
NEURON (2011)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
Misfolded SOD1 Associated with Motor Neuron Mitochondria Alters Mitochondrial Shape and Distribution Prior to Clinical Onset
Christine Vande Velde et al.
PLOS ONE (2011)
TBK1 Mediates Crosstalk Between the Innate Immune Response and Autophagy
Hilla Weidberg et al.
SCIENCE SIGNALING (2011)
Cognitive and behavioral challenges in caring for patients with frontotemporal dementia and amyotrophic lateral sclerosis
Jennifer Merrilees et al.
AMYOTROPHIC LATERAL SCLEROSIS (2010)
Psychological morbidity in ALS: The importance of psychological assessment beyond depression alone
Stephanie H. Felgoise et al.
AMYOTROPHIC LATERAL SCLEROSIS (2010)
Dextromethorphan Plus Ultra Low-Dose Quinidine Reduces Pseudobulbar Affect
Erik P. Pioro et al.
ANNALS OF NEUROLOGY (2010)
Sigma Nonopioid Intracellular Receptor 1 Mutations Cause Frontotemporal Lobar Degeneration-Motor Neuron Disease
Agnes A. Luty et al.
ANNALS OF NEUROLOGY (2010)
Structure and function of mRNA export adaptors
Matthew J. Walsh et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2010)
Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral Sclerosis
Han-Jou Chen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Superoxide dismutase-1 and other proteins in inclusions from transgenic amyotrophic lateral sclerosis model mice
Daniel Bergemalm et al.
JOURNAL OF NEUROCHEMISTRY (2010)
Incidence of amyotrophic lateral sclerosis in Europe
Giancarlo Logroscino et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)
The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosis
Martin R. Turner et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2010)
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
Andrew C. Elden et al.
NATURE (2010)
Mutations of optineurin in amyotrophic lateral sclerosis
Hirofumi Maruyama et al.
NATURE (2010)
TAR DNA-binding protein 43 in neurodegenerative disease
Alice S. Chen-Plotkin et al.
NATURE REVIEWS NEUROLOGY (2010)
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Jane O. Johnson et al.
NEURON (2010)
Loss of ALS2/Alsin Exacerbates Motor wDysfunction in a SOD1H46R-Expressing Mouse ALS Model by Disturbing Endolysosomal Trafficking
Shinji Hadano et al.
PLOS ONE (2010)
Deficits in axonal transport precede ALS symptoms in vivo
Lynsey G. Bilsland et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Deleterious Variants of FIG4. a Phosphoinositide Phosphatase, in Patients with ALS
Clement Y. Chow et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
Claire L. Simpson et al.
HUMAN MOLECULAR GENETICS (2009)
Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2
Cole J. Ferguson et al.
HUMAN MOLECULAR GENETICS (2009)
Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
Jeong-Sun Ju et al.
JOURNAL OF CELL BIOLOGY (2009)
RANDOMIZED DOUBLE-BLIND STUDY OF BOTULINUM TOXIN TYPE B FOR SIALORRHEA IN ALS PATIENTS
Carlayne E. Jackson et al.
MUSCLE & NERVE (2009)
Trends and determinants of end-of-life practices in ALS in the Netherlands
M. Maessen et al.
NEUROLOGY (2009)
Reduced frequency of ALS in an ethnically mixed population
T. Zaldivar et al.
NEUROLOGY (2009)
Practice Parameter update: The care of the patient with amyotrophic lateral sclerosis: Drug, nutritional, and respiratory therapies (an evidence-based review) Report of the Quality Standards Subcommittee of the American Academy of Neurology
R. G. Miller et al.
NEUROLOGY (2009)
The Transcellular Spread of Cytosolic Amyloids, Prions, and Prionoids
Adriano Aguzzi et al.
NEURON (2009)
Characterization of Detergent-Insoluble Proteins in ALS Indicates a Causal Link between Nitrative Stress and Aggregation in Pathogenesis
Manuela Basso et al.
PLOS ONE (2009)
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Caroline Vance et al.
SCIENCE (2009)
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
T. J. Kwiatkowski et al.
SCIENCE (2009)
Gcn5- and Elp3-induced histone H3 acetylation regulates hsp70 gene transcription in yeast
Qiuju Han et al.
BIOCHEMICAL JOURNAL (2008)
Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation
Matthew J. Winton et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Motor neuron disease occurring in a mutant dynactin mouse model is characterized by defects in vesicular trafficking
Fiona M. Laird et al.
JOURNAL OF NEUROSCIENCE (2008)
Preferential motor unit loss in the SOD1G93A transgenic mouse model of amyotrophic lateral sclerosis
J. Hegedus et al.
JOURNAL OF PHYSIOLOGY-LONDON (2008)
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology:: a genetic and histopathological analysis
Vivianna M. Van Deerlin et al.
LANCET NEUROLOGY (2008)
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Edor Kabashi et al.
NATURE GENETICS (2008)
The ALS/PDC syndrome of Guam and the cycad hypothesis
John C. Steele et al.
NEUROLOGY (2008)
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
Jemeen Sreedharan et al.
SCIENCE (2008)
Disease course and prognostic factors of progressive muscular atrophy
Jeldican Visser et al.
ARCHIVES OF NEUROLOGY (2007)
Differentiation between primary lateral sclerosis and amyotrophic lateral sclerosis - Examination of symptoms and signs at disease onset and during follow-up
Maria Carmela Tartaglia et al.
ARCHIVES OF NEUROLOGY (2007)
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Manuela Neumann et al.
SCIENCE (2006)
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
N. Parkinson et al.
NEUROLOGY (2006)
Positive effects of tertiary centres for amyotrophic lateral sclerosis on outcome and use of hospital facilities
A. Chiò et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2006)
Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities
R. S. Devon et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
MJ Greenway et al.
NATURE GENETICS (2006)
Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis
SC Bourke et al.
LANCET NEUROLOGY (2006)
Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis
ML Garcia et al.
NEUROBIOLOGY OF DISEASE (2006)
Multidisciplinary ALS care improves quality of life in patients with ALS
JP Van den Berg et al.
NEUROLOGY (2005)
An early step in wobble uridine tRNA modification requires the Elongator complex
B Huang et al.
RNA (2005)
Use of sniff nasal-inspiratory force to predict survival in amyotrophic lateral sclerosis
RK Morgan et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2005)
Breaking the news: A survey of ALS patients and their caregivers
L McCluskey et al.
AMYOTROPHIC LATERAL SCLEROSIS (2004)
Mechanisms underlying the riluzole inhibition of glutamate release from rat cerebral cortex nerve terminals (synaptosomes)
SJ Wang et al.
NEUROSCIENCE (2004)
Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor
JD Topp et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
AL Nishimura et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis
F Gros-Louis et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
YZ Chen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: a population based study, 1996-2000
BJ Traynor et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2003)
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis
PC Sapp et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Patients' health-related quality-of-life and health state values for motor neurone disease/amyotrophic lateral sclerosis
C Green et al.
QUALITY OF LIFE RESEARCH (2003)
Noninvasive ventilation in ALS - Indications and effect on quality of life
SC Bourke et al.
NEUROLOGY (2003)
ALS-associated mutant SOD1G93A causes mitochondrial vacuolation by expansion of the intermembrane space and by involvement of SOD1 aggregation and peroxisomes
CMJ Higgins et al.
BMC NEUROSCIENCE (2003)
Religiousness is related to quality of life in patients with ALS
SM Walsh et al.
NEUROLOGY (2003)
Sporadic lower motor neuron disease with adult onset: classification of subtypes
RM Van den Berg-Vos et al.
BRAIN (2003)
Mutant dynactin in motor neuron disease
I Puls et al.
NATURE GENETICS (2003)
Proteasomal inhibition by misfolded mutant superoxide dismutase 1 induces selective motor neuron death in familial amyotrophic lateral sclerosis
M Urushitani et al.
JOURNAL OF NEUROCHEMISTRY (2002)
Hereditary motor neuropathies and motor neuron diseases: which is which
C Hanemann et al.
AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS (2002)
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q
CK Hand et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
The ALS Patient Care Database: Insights into end-of-life care in ALS
RN Mandler et al.
AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS (2001)
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
Y Yang et al.
NATURE GENETICS (2001)
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
S Hadano et al.
NATURE GENETICS (2001)
A prospective study of quality of life in ALS patients treated with noninvasive ventilation
RA Lyall et al.
NEUROLOGY (2001)
The course of the terminal phase in patients with amyotrophic lateral sclerosis
C Neudert et al.
JOURNAL OF NEUROLOGY (2001)
GluR2 AMPA receptor subunit expression in motoneurons at low and high risk for degeneration in amyotrophic lateral sclerosis
P Laslo et al.
EXPERIMENTAL NEUROLOGY (2001)
Measuring quality of life - Is quality of life determined by expectations or experience?
AJ Carr et al.
BMJ-BRITISH MEDICAL JOURNAL (2001)
Quality of life in ALS depends on factors other than strength and physical function
Z Simmons et al.
NEUROLOGY (2000)
Amyotrophic lateral sclerosis mimic syndromes - A population-based study
BJ Traynor et al.
ARCHIVES OF NEUROLOGY (2000)
分享论文
