Literature DB >> 10848490

Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)

J R Lupski.   

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Year:  2000        PMID： 10848490      PMCID： PMC1287104          DOI： 10.1086/302986

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  27 in total

1.  A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Authors:  I V Mersiyanova; A V Perepelov; A V Polyakov; V F Sitnikov; E L Dadali; R B Oparin; A N Petrin; O V Evgrafov
Journal:  Am J Hum Genet       Date:  2000-06-07       Impact factor: 11.025

2.  N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.

Authors:  L Kalaydjieva; D Gresham; R Gooding; L Heather; F Baas; R de Jonge; K Blechschmidt; D Angelicheva; D Chandler; P Worsley; A Rosenthal; R H King; P K Thomas
Journal:  Am J Hum Genet       Date:  2000-05-30       Impact factor: 11.025

3.  Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells.

Authors:  S M de Waegh; V M Lee; S T Brady
Journal:  Cell       Date:  1992-02-07       Impact factor: 41.582

4.  Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1.

Authors:  H Takashima; M Nakagawa; M Suehara; M Saito; A Saito; N Kanzato; T Matsuzaki; K Hirata; J D Terwilliger; M Osame
Journal:  Neuromuscul Disord       Date:  1999-10       Impact factor: 4.296

5.  Self-assembly in Vitro of the 68,000 molecular weight component of the mammalian neurofilament triplet proteins into intermediate-sized filaments.

Authors:  N Geisler; K Weber
Journal:  J Mol Biol       Date:  1981-09-25       Impact factor: 5.469

Review 6.  Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

Authors:  J R Lupski
Journal:  Pediatr Res       Date:  1999-02       Impact factor: 3.756

7.  Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.

Authors:  K Ben Othmane; L T Middleton; L J Loprest; K M Wilkinson; F Lennon; M P Rozear; J M Stajich; P C Gaskell; A D Roses; M A Pericak-Vance
Journal:  Genomics       Date:  1993-08       Impact factor: 5.736

8.  Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1.

Authors:  D F Watson; F N Nachtman; R W Kuncl; J W Griffin
Journal:  Neurology       Date:  1994-12       Impact factor: 9.910

9.  Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

Authors:  J M Kwon; J L Elliott; W C Yee; J Ivanovich; N J Scavarda; P J Moolsintong; P J Goodfellow
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

10.  A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease.

Authors:  M K Lee; J R Marszalek; D W Cleveland
Journal:  Neuron       Date:  1994-10       Impact factor: 17.173
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  6 in total

1.  Differential expression of cytoskeletal genes in the cochlear nucleus.

Authors:  David R Friedland; Paul Popper; Rebecca Eernisse; Benjamin Ringger; Joseph A Cioffi
Journal:  Anat Rec A Discov Mol Cell Evol Biol       Date:  2006-04

Review 2.  Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Authors:  Henry Houlden; Mary M Reilly
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

3.  A quantitative examination of the role of cargo-exerted forces in axonal transport.

Authors:  Cassie S Mitchell; Robert H Lee
Journal:  J Theor Biol       Date:  2008-12-24       Impact factor: 2.691

4.  Foot pad skin biopsy in mouse models of hereditary neuropathy.

Authors:  Patrizia Dacci; Giorgia Dina; Federica Cerri; Stefano Carlo Previtali; Ignazio Diego Lopez; Giuseppe Lauria; Maria Laura Feltri; Alessandra Bolino; Giancarlo Comi; Lawrence Wrabetz; Angelo Quattrini
Journal:  Glia       Date:  2010-12       Impact factor: 7.452

Review 5.  Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.

Authors:  Paula Juárez; Francesc Palau
Journal:  Neural Plast       Date:  2012-06-13       Impact factor: 3.599

6.  Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.

Authors:  Fatima Ferreirinha; Angelo Quattrini; Marinella Pirozzi; Valentina Valsecchi; Giorgia Dina; Vania Broccoli; Alberto Auricchio; Fiorella Piemonte; Giulia Tozzi; Laura Gaeta; Giorgio Casari; Andrea Ballabio; Elena I Rugarli
Journal:  J Clin Invest       Date:  2004-01       Impact factor: 14.808
  6 in total

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