Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)

No abstract is available for this paper.

• Publication year

  1998

• Venue

  NeuroReport

• Publication date

  1998-12-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1097/00001756-199812010-00036PMID 9875737
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND)

  1997cited by this paper
• Aggregation of Mutant Cu/Zn Superoxide Dismutase Proteins in a Culture Model of ALS

  1997cited by this paper
• Neurofilaments and Orthograde Transport Are Reduced in Ventral Root Axons of Transgenic Mice that Express Human SOD1 with a G93A Mutation

  1997cited by this paper
• Neuronal intermediate filaments.

  1996cited by this paper
• Transgenic mice carrying a human mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions.

  1996cited by this paper
• Selective loss of neurofilament proteins after exposure of differentiated human IMR-32 neuroblastoma cells to oxidative stress.

  1996cited by this paper
• SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis.

  1996cited by this paper
• Molecular Basis of Genetic Instability of Triplet Repeats (*)

  1996cited by this paper
• Radical AGEing in Alzheimer's disease.

  1995cited by this paper
• A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease.

  1994cited by this paper
• Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.

  1994cited by this paper
• Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

  1993cited by this paper
• Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease.

  1993cited by this paper
• Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis.

  1993cited by this paper
• Polymorphism in the multi-phosphorylation domain of the human neurofilament heavy-subunit-encoding gene.

  1993cited by this paper
• Cytopathology of amyotrophic lateral sclerosis.

  1991cited by this paper
• The structure and organization of the human heavy neurofilament subunit (NF‐H) and the gene encoding it.

  1988cited by this paper
• Slipped-strand mispairing: a major mechanism for DNA sequence evolution.

  1987cited by this paper

• From Cell Architecture to Mitochondrial Signaling: Role of Intermediate Filaments in Health, Aging, and Disease

  2025cites this paper
• Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS

  2024cites this paper
• Molecular Mechanisms of Neurofilament Alterations and its Application in Assessing Neurodegenerative Disorders.

  2024cites this paper
• Manejo fisioterapéutico de un paciente con esclerosis lateral amiotrófica

  2023cites this paper
• Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset

  2022cites this paper
• An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families

  2022cites this paper
• Mutations in the tail domain of the neurofilament heavy chain gene increase the risk of amyotrophic lateral sclerosis

  2022cites this paper
• New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis

  2021cites this paper
• Single-cell profiling of the human primary motor cortex in ALS and FTLD

  2021cites this paper
• Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects

  2021cites this paper
• Overlapping spectrums: the clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.

  2020cites this paper
• ESCLEROSE LATERAL AMIOTRÓFICA: FISIOPATOLOGIA E CUIDADOS DE ENFERMAGEM

  2020cites this paper
• Neurofilaments: neurobiological foundations for biomarker applications.

  2020cites this paper
• Anterograde Axonal Transport in Neuronal Homeostasis and Disease

  2020influential citation
• NEFLb impairs early nervous system development via regulation of neuron apoptosis in zebrafish

  2019cites this paper
• Molecular pathomechanisms of Amyotrophic Lateral Sclerosis caused by FUS mutations

  2019cites this paper
• Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2

  2018cites this paper
• The roles of intrinsic disorder-based liquid-liquid phase transitions in the “Dr. Jekyll–Mr. Hyde” behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

  2017cites this paper
• Motoneuron Disease: Basic Science.

  2017cites this paper
• Neurofilaments and Neurofilament Proteins in Health and Disease.

  2017cites this paper
• Gene Therapy for Amyotrophic Lateral Sclerosis

  2017cites this paper
• ALS Pathogenesis and Therapeutic Approaches: The Role of Mesenchymal Stem Cells and Extracellular Vesicles

  2017cites this paper
• Molecular Mechanisms of Amyotrophic Lateral Sclerosis

  2017cites this paper
• The genetic landscape of amyotrophic lateral sclerosis

  2017cites this paper
• SOD, ORF and ALS: On the role of SOD1 and C9ORF72 in the pathogenesis of ALS

  2016cites this paper
• Diseases of the Spinal Cord

  2016cites this paper
• Identification of amyotrophic lateral sclerosis disease mechanisms by cerebrospinal fluid proteomic profiling

  2016cites this paper
• Esclerosis lateral amiotrófica: actualización

  2016cites this paper
• The role of ALS associated genes and c-Jun in neurodegeneration

  2016cites this paper
• ALS: A bucket of genes, environment, metabolism and unknown ingredients.

  2016cites this paper
• Roots to start research in amyotrophic lateral sclerosis: molecular pathways and novel therapeutics for future

  2015cites this paper
• Emerging mechanisms of molecular pathology in ALS.

  2015cites this paper
• The genetic basis of amyotrophic lateral sclerosis: recent breakthroughs

  2015cites this paper
• Emerging mechanisms of molecular pathology in ALS.

  2015cites this paper
• The genetic basis of amyotrophic lateral sclerosis: recent breakthroughs

  2015cites this paper
• The genetic basis of amyotrophic lateral sclerosis: recent breakthroughs

  2015cites this paper
• The genetics and spread of Amyotrophic Lateral Sclerosis

  2014cites this paper
• Identification of 17 Highly Expressed Genes within Mouse Lumbar Spinal Cord Anterior Horn Region from an In-Situ Hybridization Atlas of 3430 Genes: Implications for Motor Neuron Disease

  2014cites this paper
• The Cytoskeleton

  2013cites this paper
• Intermediate Filaments in Neurodegenerative Diseases

  2013cites this paper
• Dysfonctions mitochondriales et homéostasie bioénergétique des motoneurones dans un modèle de sclérose latérale amyotrophique

  2013cites this paper
• Study of Cyclophilin A Function in Models of Amyotrophic Lateral Sclerosis

  2013cites this paper
• Endoplasmic reticulum-mitochondria associations and amyotrophic lateral sclerosis

  2013cites this paper
• The changing scene of amyotrophic lateral sclerosis

  2013cites this paper
• Neurofilaments: Properties, Functions, and Regulation

  2013cites this paper
• Axonal transport deficits and neurodegenerative diseases

  2013cites this paper
• The involvement of microRNAs in neurodegenerative diseases

  2013cites this paper
• Neurodegenerative Diseases and Intermediate Filaments

  2012cites this paper
• Neurofilament phosphorylation and their proline‐directed kinases in health and disease

  2012cites this paper
• The genetics and neuropathology of amyotrophic lateral sclerosis

  2012cites this paper
• Molecular mechanisms of radial axonal growth: insights from analysis of neurofilament gene-targeted mice

  2012cites this paper
• Understanding the gender-based mechanism of MSO treatment in ALS mice: A metabolic characterization of the SOD1-G93A mouse model

  2012cites this paper
• Molecular mechanism involved in Amyotrophic Lateral Sclerosis: role of Bcl2-A1 and TDP-43 genes in motor neuron degeneration

  2012cites this paper
• Cytoskeleton and Human Disease

  2012cites this paper
• Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology

  2011cites this paper
• Neurofilamentopathy in Neurodegenerative Diseases

  2011cites this paper
• Molecular Mechanisms of Neuronal Death

  2011cites this paper
• Misfolded superoxide dismutase-1 in amyotrophic lateral sclerosis

  2011cites this paper
• PROTEIN BIOMARKERS FOR AMYOTROPHIC LATERAL SCLEROSIS: CHARATERIZATION AND IMPLICATIONS FOR DISEASE PATHOGENESIS

  2011cites this paper
• Charcot-Marie-Tooth Neuropathy Type 2E/1F

  2011cites this paper
• Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

  2011cites this paper
• miRNA malfunction causes spinal motor neuron disease

  2010cites this paper
• Review: Neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy

  2010cites this paper
• Mutant Superoxide Dismutase-1-caused pathogenesis in Amyotrophic Lateral Sclerosis

  2010cites this paper
• Neuronal death in amyotrophic lateral sclerosis (ALS): what can we learn from genetics?

  2010cites this paper
• Variation of the neurofilament medium KSP repeat sub-domain across mammalian species: implications for altering axonal structure

  2010cites this paper
• Experimental models for the study of neurodegeneration in amyotrophic lateral sclerosis

  2009cites this paper
• Amyotrophic lateral sclerosis

  2009cites this paper
• The Role of Copy Number Variation in Susceptibility to Amyotrophic Lateral Sclerosis: Genome-Wide Association Study and Comparison with Published Loci

  2009cites this paper
• Genetic studies of amyotrophic lateral sclerosis: Controversies and perspectives

  2009cites this paper
• Esclerosis lateral amiotrófica: una actualización

  2009cites this paper
• Molecular factors underlying selective vulnerability of motor neurons to neurodegeneration in amyotrophic lateral sclerosis

  2009cites this paper
• The Genetics of Amyotrophic Lateral Sclerosis

  2009cites this paper
• Neuronal intermediate filaments and neurodegenerative disorders.

  2009cites this paper
• Pathophysiology of neurodegeneration in familial amyotrophic lateral sclerosis.

  2009cites this paper
• 33Neurodegenerative Diseases and Single

  2008cites this paper
• [Genetics of motor neuron disorders].

  2008cites this paper
• Génétique de la sclérose latérale amyotrophique

  2008cites this paper
• Review of the Multiple Aspects of Neurofilament Functions, and their Possible Contribution to Neurodegeneration

  2008cites this paper
• The Central Role of Calcium Dysregulation in a Primary Cell Culture Model of Amyotrophic Lateral Sclerosis

  2008cites this paper
• Familial Neurodegenerative Diseases and Single Nucleotide Polymorphisms

  2008cites this paper
• Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1

  2008cites this paper
• Neurofilament protein aggregation in a cell line model system.

  2008cites this paper
• An analysis of the entire SOD1 gene in sporadic ALS.

  2008cites this paper
• Targeting angiogenin in therapy of amyotropic lateral sclerosis

  2008cites this paper
• Molecular insights and therapeutic targets in amyotrophic lateral sclerosis.

  2008cites this paper
• Genetica della sclerosi laterale amiotrofica

  2008cites this paper
• Amyotrophic lateral sclerosis: from current developments in the laboratory to clinical implications.

  2008cites this paper
• Neurofilament proteins in the postnatal rat hippocampus. Developmental expression and changes in experimental epilepsy

  2008cites this paper
• Génétique des maladies du motoneurone

  2008cites this paper
• Tumor necrosis factor-alpha induces changes in mitochondrial cellular distribution in motor neurons.

  2007cites this paper
• Chapter 6 Animal models of motor neuron death.

  2007cites this paper
• Neurofilament Proteins in Brain Diseases

  2007cites this paper
• Genetics of sporadic amyotrophic lateral sclerosis.

  2007cites this paper
• Does treating schizophrenia reduce the chances of developing amyotrophic lateral sclerosis?

  2007cites this paper
• Role of zinc in ALS

  2007cites this paper
• The heterogeneity of amyotrophic lateral sclerosis: a possible explanation of treatment failure.

  2007cites this paper
• Chapter 4 Molecular mechanisms of motor neuron degeneration in amyotrophic lateral sclerosis.

  2007cites this paper
• Studies of the pathogenesis of slow neuroinfections using proteomic techniques

  2007cites this paper
• New movements in neurofilament transport, turnover and disease.

  2007cites this paper