Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis

[1]  R. Liem,et al.  Mutations in the neurofilament light gene linked to Charcot‐Marie‐Tooth disease cause defects in transport , 2005, Journal of neurochemistry.

[2]  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.

[3]  V. Meininger,et al.  A Frameshift Deletion in Peripherin Gene Associated with Amyotrophic Lateral Sclerosis* , 2004, Journal of Biological Chemistry.

[4]  R. Liem,et al.  Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models. , 2004, Human molecular genetics.

[5]  S. Chin,et al.  A Pathogenic Peripherin Gene Mutation in a Patient with Amyotrophic Lateral Sclerosis , 2004, Brain pathology.

[6]  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.

[7]  J. Schulz,et al.  Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 , 2004, Nature Genetics.

[8]  S. Züchner,et al.  The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy , 2004, Neuromuscular Disorders.

[9]  G. Sobue,et al.  Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan , 2004, Neurogenetics.

[10]  E. Bertini,et al.  Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[11]  Sameer B. Shah,et al.  NF-M is an essential target for the myelin-directed “outside-in” signaling cascade that mediates radial axonal growth , 2003, The Journal of cell biology.

[12]  J. Julien,et al.  Peripherin is not a contributing factor to motor neuron disease in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase , 2003, Neurobiology of Disease.

[13]  J. Julien,et al.  A neurotoxic peripherin splice variant in a mouse model of ALS , 2003, The Journal of cell biology.

[14]  J. Lupski,et al.  Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. , 2003, Brain : a journal of neurology.

[15]  R. Liem,et al.  Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation , 2002, Journal of Cell Science.

[16]  G. Sobue,et al.  Identification of novel sequence variants in the neurofilament‐light gene in a Japanese population: analysis of Charcot‐Marie‐Tooth disease patients and normal individuals , 2002, Journal of the peripheral nervous system : JPNS.

[17]  C. Shaw,et al.  Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. , 2002, Human molecular genetics.

[18]  J. Zidar,et al.  A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family , 2002, Neurogenetics.

[19]  N. Calcutt,et al.  Gene replacement in mice reveals that the heavily phosphorylated tail of neurofilament heavy subunit does not affect axonal caliber or the transit of cargoes in slow axonal transport , 2002, The Journal of cell biology.

[20]  Minh N. H. Nguyen,et al.  Reduced number of unmyelinated sensory axons in peripherin null mice , 2002, Journal of neurochemistry.

[21]  N. Hirokawa,et al.  Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bβ , 2001, Cell.

[22]  J. Julien,et al.  Deregulation of Cdk5 in a Mouse Model of ALS Toxicity Alleviated by Perikaryal Neurofilament Inclusions , 2001, Neuron.

[23]  C. van Broeckhoven,et al.  Further evidence that neurofilament light chain gene mutations can cause Charcot‐Marie‐Tooth disease type 2E , 2001, Annals of neurology.

[24]  N. Hirokawa,et al.  Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. , 2001, Cell.

[25]  N. Hirokawa,et al.  The C-terminal tail domain of neurofilament protein-H (NF-H) forms the crossbridges and regulates neurofilament bundle formation. , 2000, Journal of cell science.

[26]  J. Julien,et al.  Reduction of axonal caliber does not alleviate motor neuron disease caused by mutant superoxide dismutase 1. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[27]  H. Zoghbi,et al.  Neurobiology of disease , 2000, Current Opinion in Neurobiology.

[28]  K. Fischbeck,et al.  A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4 ) localizes to a 500-kb interval on chromosome 9q34 , 2000, Neurogenetics.

[29]  J. Julien,et al.  Extra Axonal Neurofilaments Do Not Exacerbate Disease Caused by Mutant Cu,Zn Superoxide Dismutase , 2000, Neurobiology of Disease.

[30]  O. Evgrafov,et al.  A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. , 2000, American journal of human genetics.

[31]  J. Kong,et al.  Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis , 2000, Neuroscience Letters.

[32]  J. Julien,et al.  Late Onset Death of Motor Neurons in Mice Overexpressing Wild-Type Peripherin , 1999, The Journal of cell biology.

[33]  A Al-Chalabi,et al.  Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. , 1999, Human molecular genetics.

[34]  J. Slade,et al.  Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS) , 1998, Neuroreport.

[35]  Q. Zhu,et al.  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. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[36]  Q. Zhu,et al.  Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[37]  P. Wong,et al.  Pathogenesis of two axonopathies does not require axonal neurofilaments , 1998, Nature.

[38]  J. Julien,et al.  Delayed Maturation of Regenerating Myelinated Axons in Mice Lacking Neurofilaments , 1997, Experimental Neurology.

[39]  D. Nickerson,et al.  PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. , 1997, Nucleic acids research.

[40]  L. Bruijn,et al.  Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosis , 1996, Annals of neurology.

[41]  T. Crawford,et al.  Subunit composition of neurofilaments specifies axonal diameter , 1996, The Journal of cell biology.

[42]  J. Griffin,et al.  Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot‐Marie‐Tooth disease type 1 , 1994, Neurology.

[43]  D. Cleveland,et al.  A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease , 1994, Neuron.

[44]  V. Meininger,et al.  Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. , 1994, Human molecular genetics.

[45]  P. Wong,et al.  Neurofilaments are obligate heteropolymers in vivo , 1993, The Journal of cell biology.

[46]  R. Liem,et al.  Assembly of type IV neuronal intermediate filaments in nonneuronal cells in the absence of preexisting cytoplasmic intermediate filaments , 1993, The Journal of cell biology.

[47]  J. Julien,et al.  Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: A mouse model of amyotrophic lateral sclerosis , 1993, Cell.

[48]  L. Cork,et al.  Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease , 1993, Cell.

[49]  O. Ohara,et al.  Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene , 1993, The Journal of cell biology.

[50]  J. Haines,et al.  Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis , 1993, Nature.

[51]  A. Hirano.  Cytopathology of amyotrophic lateral sclerosis. , 1991, Advances in neurology.

[52]  A. Hirano,et al.  Fine Structural Observations of Neurofilamentous Changes in Amyotrophic Lateral Sclerosis , 1984, Journal of neuropathology and experimental neurology.

[53]  L. Kurland,et al.  Fine Structural Study of Neurofibrillary Changes in a Family with Amyotrophic Lateral Sclerosis , 1984, Journal of neuropathology and experimental neurology.

[54]  Hughes Jt,et al.  Pathology of amyotrophic lateral sclerosis. , 1982 .

[55]  S. Carpenter.  Proximal axonal enlargement in motor neuron disease , 1968, Neurology.