Literature DB >> 5156632

The Chediak-Higashi-Steinbrinck syndrome. Presentation of three cases with features resembling spinocerebellar degeneration.

W Sheramata, H S Kott, D P Cyr.   

Abstract

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Year:  1971        PMID： 5156632     DOI： 10.1001/archneur.1971.00490040015001

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


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  8 in total

1.  Chediak-Higashi syndrome.

Authors:  J E Cree; T P Mann; A D Webster; G L Asherson
Journal:  Proc R Soc Med       Date:  1975-05

Review 2.  [Chediak-Higashi syndrome].

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

3.  Parkinsonism and Other Movement Disorders Associated with Chediak-Higashi Syndrome: Case Report and Systematic Literature Review.

Authors:  Bettina Balint; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2015-01-14

4.  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

5.  Drosophila mauve mutants reveal a role of LYST homologs late in the maturation of phagosomes and autophagosomes.

Authors:  Mokhlasur Rahman; Adam Haberman; Charles Tracy; Sanchali Ray; Helmut Krämer
Journal:  Traffic       Date:  2012-09-20       Impact factor: 6.215

6.  The Chédiak-Higashi syndrome: CT and MR findings.

Authors:  R Ballard; R D Tien; V Nohria; V Juel
Journal:  Pediatr Radiol       Date:  1994

7.  Mouse models and strain-dependency of Chédiak-Higashi syndrome-associated neurologic dysfunction.

Authors:  Adam Hedberg-Buenz; Laura M Dutca; Demelza R Larson; Kacie J Meyer; Dana A Soukup; Carly J van der Heide; Hannah E Mercer; Kai Wang; Michael G Anderson
Journal:  Sci Rep       Date:  2019-05-01       Impact factor: 4.379

8.  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
  8 in total

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