Genetic Disorders of Motor Neurons

No abstract is available for this paper.

• Publication year

  1999

• Venue

  Seminars in neurology

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1055/s-2008-1040855PMID 10716663
• 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.

• Clinical and molecular aspects of androgen receptor defects

  2009cited by this paper
• Amyotrophic lateral sclerosis. A study of its presentation and prognosis

  2004cited by this paper
• Lewy body-like hyaline inclusions in sporadic motor neuron disease are ubiquitinated

  2004cited by this paper
• Focal accumulation of phosphorylated neurofilaments within anterior horn cell in familial amyotrophic lateral sclerosis

  2004cited by this paper
• Spinal muscular atrophy

  2000cited by this paper
• Signaling myopia

  1999cited by this paper
• Assessment of upper and lower motor neurons in Kennedy's disease: Implications for corticomotoneuronal PSTH studies

  1999cited by this paper
• A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.

  1999cited by this paper
• Spinal muscular atrophy: molecular pathophysiology.

  1999cited by this paper
• Benefit of a combined treatment with trientine and ascorbate in familial amyotrophic lateral sclerosis model mice.

  1999cited by this paper
• The Copper Chaperone CCS Is Abundant in Neurons and Astrocytes in Human and Rodent Brain

  1999cited by this paper
• SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter

  1999cited by this paper
• Genistein is neuroprotective in murine models of familial amyotrophic lateral sclerosis and stroke.

  1999cited by this paper
• Spinal muscular atrophy

  1999cited by this paper
• Identification of survival motor neuron as a transcriptional activator-binding protein.

  1999cited by this paper
• A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

  1999cited by this paper
• Neurodegenerative diseases of Guam: Analysis of TAU

  1999cited by this paper
• Kennedy's Disease

  1999cited by this paper
• The Linkage of Kennedy’s Neuron Disease to ARA24, the First Identified Androgen Receptor Polyglutamine Region-associated Coactivator*

  1999cited by this paper
• The role of excitotoxicity in neurodegenerative disease: implications for therapy.

  1999cited by this paper
• Spinal muscular atrophy: untangling the knot?

  1999cited by this paper
• Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis.

  1999cited by this paper
• Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis

  1999cited by this paper
• The role of excitotoxicity in neurodegenerative disease: implications for therapy.

  1999cited by this paper
• [In vitro aggregation and cellular toxicity of mutant androgen receptor protein in spinal and bulbar muscular atrophy].

  1999cited by this paper
• Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis

  1999cited by this paper
• Tau Mutations in Frontotemporal Dementia

  1999cited by this paper
• Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.

  1999cited by this paper
• Release of copper ions from the familial amyotrophic lateral sclerosis-associated Cu,Zn-superoxide dismutase mutants.

  1999cited by this paper
• A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing.

  1998cited by this paper
• An analysis of extended survival in patients with amyotrophic lateral sclerosis treated with riluzole.

  1998cited by this paper
• The Copper Chaperone CCS Directly Interacts with Copper/Zinc Superoxide Dismutase*

  1998cited by this paper
• Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy

  1998cited by this paper
• Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

  1998cited by this paper
• Identification of alternative splicing forms of GLT-1 mRNA in the spinal cord of amyotrophic lateral sclerosis patients.

  1998cited by this paper
• Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant.

  1998cited by this paper
• The natural history and the effects of gabapentin in amyotrophic lateral sclerosis.

  1998cited by this paper
• Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

  1998cited by this paper
• Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase.

  1998cited by this paper
• Transgenic Mice in the Study of ALS: The Role of Neurofilaments

  1998cited by this paper
• Cytochrome c Oxidase subunit I microdeletion in a patient with motor neuron disease

  1998cited by this paper
• Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis.

  1998cited by this paper
• Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33

  1998cited by this paper
• Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

  1998cited by this paper
• Familial amyotrophic lateral sclerosis and Alzheimer's disease. Transgenic models.

  1998cited by this paper
• Aberrant RNA Splicing Minireview in Sporadic Amyotrophic Lateral Sclerosis

  1998cited by this paper
• The role of the SMN gene in proximal spinal muscular atrophy.

  1998cited by this paper
• Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex.

  1998cited by this paper
• Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

  1998cited by this paper
• Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1.

  1998cited by this paper
• Bcl-2: prolonging life in a transgenic mouse model of familial amyotrophic lateral sclerosis.

  1997cited by this paper
• Prognosis in Familial Amyotrophic Lateral Sclerosis

  1997cited by this paper
• The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis.

  1997cited by this paper
• The Copper Chaperone for Superoxide Dismutase*

  1997cited by this paper
• The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.

  1997cited by this paper
• Correlation between severity and SMN protein level in spinal muscular atrophy

  1997cited by this paper
• Delivering Copper Inside Yeast and Human Cells

  1997cited by this paper
• Amyotrophic lateral sclerosis. Insights from genetics.

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

  1997cited by this paper
• Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.

  1997cited by this paper
• Mutant Superoxide Dismutase-1-Linked Familial Amyotrophic Lateral Sclerosis: Molecular Mechanisms of Neuronal Death and Protection

  1997cited by this paper
• Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy

  1997cited by this paper
• The Copper Chelator d‐Penicillamine Delays Onset of Disease and Extends Survival in a Transgenic Mouse Model of Familial Amyotrophic Lateral Sclerosis

  1997cited by this paper
• Clinical Aspects of CAG Repeat Diseases

  1997cited by this paper
• Kennedy disease

  1997cited by this paper
• Unusual molecular findings in autosomal recessive spinal muscular atrophy.

  1996cited by this paper
• Genetic and molecular basis for copper toxicity.

  1996cited by this paper
• Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.

  1996cited by this paper
• Benefit of vitamin E, riluzole, and gababapentin in a transgenic model of familial amyotrophic lateral sclerosis

  1996cited by this paper
• Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosis

  1996cited by this paper
• Glutamine repeats and inherited neurodegenerative diseases: molecular aspects.

  1996cited by this paper
• Structure and organization of the human survival motor neurone (SMN) gene.

  1996cited by this paper
• Survival in patients with amyotrophic lateral sclerosis, treated with an array of antioxidants.

  1996cited by this paper
• A novel nuclear structure containing the survival of motor neurons protein.

  1996cited by this paper
• [Role of glutamate and excitotoxicity in neurologic diseases].

  1996cited by this paper
• The neurobiology of childhood spinal muscular atrophy.

  1996cited by this paper
• Muscle Disorders in Childhood, 2nd Ed.

  1996cited by this paper
• Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis

  1995cited by this paper
• When more is less: pathogenesis of glutamine repeat neurodegenerative diseases.

  1995cited by this paper
• Neuropathological changes in two lines of mice carrying a transgene for mutant human Cu,Zn SOD, and in mice overexpressing wild type human SOD: a model of familial amyotrophic lateral sclerosis (FALS).

  1995cited by this paper
• PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy.

  1995cited by this paper
• The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy.

  1995cited by this paper
• Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis.

  1995cited by this paper
• Identification and characterization of a spinal muscular atrophy-determining gene

  1995cited by this paper
• Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons.

  1995cited by this paper
• Selective loss of glial glutamate transporter GLT‐1 in amyotrophic lateral sclerosis

  1995cited by this paper
• When more is less: pathogenesis of glutamine repeat neurodegenerative diseases.

  1995cited by this paper
• Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

  1995cited by this paper
• Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.

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

  1994cited by this paper
• Transgenic and Knock‐out Mice: Models of Neurological Disease

  1994cited by this paper
• Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation.

  1994cited by this paper
• Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.

  1994cited 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
• Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35

  1994cited by this paper
• Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.

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

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

  1993cited by this paper
• Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

  1993cited by this paper

• ALZHEIMER’S DISEASE THERAPEUTIC APPROACHES

  2018cites this paper
• The Importance of Non-neuronal Cell Types in hiPSC-Based Disease Modeling and Drug Screening

  2017cites this paper
• Generation of Spinal Motor Neurons from Human Pluripotent Stem Cells.

  2017cites this paper
• Reverse engineering human neurodegenerative disease using pluripotent stem cell technology.

  2016cites this paper
• Cellular therapy to target neuroinflammation in amyotrophic lateral sclerosis

  2013cites this paper
• Airway Clearance Needs in Amyotrophic Lateral Sclerosis: An Overview

  2013cites this paper
• Human embryonic stem cell-derived motor neurons are sensitive to the toxic effect of glial cells carrying an ALS-causing mutation.

  2008cites this paper
• Non–cell autonomous effect of glia on motor neurons in an embryonic stem cell–based ALS model

  2007cites this paper
• The role of eEF1A2 in the pathogenesis of motor neurone disease in wasted mice

  2007cites this paper
• Copper homeostasis and neurodegenerative disorders (Alzheimer's, prion, and Parkinson's diseases and amyotrophic lateral sclerosis).

  2006cites this paper
• Alsin Is a Rab5 and Rac1 Guanine Nucleotide Exchange Factor*

  2004cites this paper
• A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy

  2003cites this paper
• Distribution of GABAA Receptor mRNA in the Motor Cortex of ALS Patients

  2003cites this paper
• Toxic Proteins in Neurodegenerative Disease

  2002cites this paper
• Progress in Clinical Neurosciences: The Evidence for ALS as a Multisystems Disorder of Limited Phenotypic Expression

  2001cites this paper
• Genetics of amyotrophic lateral sclerosis

  2000cites this paper
• Mice, the Motor System, and Human Motor Neuron Pathology

  2000cites this paper
• Amyotrophic lateral sclerosis: pathogenesis.

  2000cites this paper
• Genetic markers of ALS.

  2000cites this paper
• Genetic markers of ALS

  2000cites this paper
• Amyotrophic lateral sclerosis: pathogenesis.

  2000cites this paper
• Genetics of amyotrophic lateral sclerosis.

  2000cites this paper