Literature DB >> 4290695

The Chediak-Higashi syndrome: electrophysiological and electron microscopic observations on the peripheral neuropathy.

L A Lockman, W R Kennedy, J G White.   

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Year:  1967        PMID: 4290695     DOI: 10.1016/s0022-3476(67)80267-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  11 in total

Review 1.  [Chediak-Higashi syndrome].

Authors:  J Wolf; C Jacobi; H Breer; A Grau
Journal:  Nervenarzt       Date:  2006-02       Impact factor: 1.214

2.  Peripheral neuropathy in the Chediak-Higashi syndrome.

Authors:  V P Misra; R H King; A E Harding; J R Muddle; P K Thomas
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

3.  Vision in albinism.

Authors:  C G Summers
Journal:  Trans Am Ophthalmol Soc       Date:  1996

4.  Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).

Authors:  K Fukai; J Oh; M A Karim; K J Moore; H H Kandil; H Ito; J Bürger; R A Spritz
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

5.  Protein misfolding and clearance in demyelinating peripheral neuropathies: Therapeutic implications.

Authors:  Samuel M Lee; Lih-Shen Chin; Lian Li
Journal:  Commun Integr Biol       Date:  2012-01-01

Review 6.  Genetic defects in Chediak-Higashi syndrome and the beige mouse.

Authors:  R A Spritz
Journal:  J Clin Immunol       Date:  1998-03       Impact factor: 8.317

7.  The lysosomal trafficking regulator is necessary for normal wound healing.

Authors:  Jacob C Zbinden; Gabriel J M Mirhaidari; Kevin M Blum; Andrew J Musgrave; James W Reinhardt; Christopher K Breuer; Jenny C Barker
Journal:  Wound Repair Regen       Date:  2021-11-27       Impact factor: 3.617

8.  A histochemical and electron microscopic study of skeletal muscle in an adult case of Chédiak-Higashi syndrome.

Authors:  M Uchino; E Uyama; T Hirano; T Nakamura; T Fukushima; M Ando
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

9.  Peripheral nervous system manifestations of Chediak-Higashi disease.

Authors:  Tanya J Lehky; Catherine Groden; Barbara Lear; Camilo Toro; Wendy J Introne
Journal:  Muscle Nerve       Date:  2016-12-16       Impact factor: 3.217

10.  Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.

Authors:  James D Weisfeld-Adams; Lakshmi Mehta; Janet C Rucker; Francine R Dembitzer; Arnold Szporn; Fred D Lublin; Wendy J Introne; Vikas Bhambhani; Michael C Chicka; Catherine Cho
Journal:  Orphanet J Rare Dis       Date:  2013-03-22       Impact factor: 4.123

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