Literature DB >> 23436631

Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.

Vikas Bhambhani1, Wendy J Introne, Codrin Lungu, Andrew Cullinane, Camilo Toro.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23436631      PMCID： PMC3581862          DOI： 10.1002/mds.25386

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


× No keyword cloud information.
  8 in total

1.  Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.

Authors:  Wendy Westbroek; David Adams; Marjan Huizing; Amy Koshoffer; Heidi Dorward; Bradford Tinloy; Jennifer Parkes; Amanda Helip-Wooley; Robert Kleta; Ekaterina Tsilou; Patrice Duvernay; Kathleen B Digre; Donnell J Creel; James G White; Raymond E Boissy; William A Gahl
Journal:  J Invest Dermatol       Date:  2007-05-31       Impact factor: 8.551

2.  Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.

Authors:  Marc Tardieu; Catherine Lacroix; Bénédicte Neven; Pierre Bordigoni; Geneviève de Saint Basile; Stéphane Blanche; Alain Fischer
Journal:  Blood       Date:  2005-03-24       Impact factor: 22.113

3.  Adult Chediak-Higashi parkinsonian syndrome with dystonia.

Authors:  R A Hauser; J Friedlander; M J Baker; J Thomas; K S Zuckerman
Journal:  Mov Disord       Date:  2000-07       Impact factor: 10.338

Review 4.  Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.

Authors:  W Introne; R E Boissy; W A Gahl
Journal:  Mol Genet Metab       Date:  1999-10       Impact factor: 4.797

5.  Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

Authors:  Mohammad A Karim; Koji Suzuki; Kazuyoshi Fukai; Jangsuk Oh; Deborah L Nagle; Karen J Moore; Ernest Barbosa; Tzipora Falik-Borenstein; Alexandra Filipovich; Yasushi Ishida; Sirpa Kivrikko; Christoph Klein; Friedmar Kreuz; Alex Levin; Hiroaki Miyajima; Jose R Regueiro; Carolyn Russo; Eiichiro Uyama; Outi Vierimaa; Richard A Spritz
Journal:  Am J Med Genet       Date:  2002-02-15

6.  Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia.

Authors:  E Uyama; T Hirano; K Ito; H Nakashima; M Sugimoto; M Naito; M Uchino; M Ando
Journal:  Acta Neurol Scand       Date:  1994-03       Impact factor: 3.209

7.  Chediak-Higashi syndrome with parkinsonism.

Authors:  Laura Silveira-Moriyama; Tais S Moriyama; Tatiana V B Gabbi; Ronald Ranvaud; Egberto R Barbosa
Journal:  Mov Disord       Date:  2004-04       Impact factor: 10.338

Review 8.  Chediak-Higashi syndrome.

Authors:  Jerry Kaplan; Ivana De Domenico; Diane McVey Ward
Journal:  Curr Opin Hematol       Date:  2008-01       Impact factor: 3.284
  8 in total
  11 in total

1.  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

2.  Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.

Authors:  Aleksandra Gil-Krzewska; Stephanie M Wood; Yousuke Murakami; Victoria Nguyen; Samuel C C Chiang; Andrew R Cullinane; Giovanna Peruzzi; William A Gahl; John E Coligan; Wendy J Introne; Yenan T Bryceson; Konrad Krzewski
Journal:  J Allergy Clin Immunol       Date:  2015-10-21       Impact factor: 10.793

3.  Chediak-Higashi syndrome: a review of the past, present, and future.

Authors:  Prashant Sharma; Elena-Raluca Nicoli; Jenny Serra-Vinardell; Marie Morimoto; Camilo Toro; May Christine V Malicdan; Wendy J Introne
Journal:  Drug Discov Today Dis Models       Date:  2019-12-09

4.  Neurologic involvement in patients with atypical Chediak-Higashi disease.

Authors:  Wendy J Introne; Wendy Westbroek; Andrew R Cullinane; Catherine A Groden; Vikas Bhambhani; Gretchen A Golas; Eva H Baker; Tanya J Lehky; Joseph Snow; Shira G Ziegler; David R Adams; Heidi M Dorward; Richard A Hess; Marjan Huizing; William A Gahl; Camilo Toro
Journal:  Neurology       Date:  2016-03-04       Impact factor: 9.910

5.  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

Review 6.  Movement Disorders and Hematologic Diseases.

Authors:  Roshni Abee Patel; Deborah A Hall; Sheila Eichenseer; Meagan Bailey
Journal:  Mov Disord Clin Pract       Date:  2020-12-29

Review 7.  A Practical Approach to Early-Onset Parkinsonism.

Authors:  Giulietta M Riboldi; Emanuele Frattini; Edoardo Monfrini; Steven J Frucht; Alessio Di Fonzo
Journal:  J Parkinsons Dis       Date:  2022       Impact factor: 5.568

Review 8.  Towards the targeted management of Chediak-Higashi syndrome.

Authors:  Maria L Lozano; Jose Rivera; Isabel Sánchez-Guiu; Vicente Vicente
Journal:  Orphanet J Rare Dis       Date:  2014-08-18       Impact factor: 4.123

9.  An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.

Authors:  Aleksandra Gil-Krzewska; Mezida B Saeed; Anna Oszmiana; Elizabeth R Fischer; Kathryn Lagrue; William A Gahl; Wendy J Introne; John E Coligan; Daniel M Davis; Konrad Krzewski
Journal:  J Allergy Clin Immunol       Date:  2017-12-11       Impact factor: 10.793

10.  The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Authors:  Celine Deneubourg; Mauricio Ramm; Luke J Smith; Olga Baron; Kritarth Singh; Susan C Byrne; Michael R Duchen; Mathias Gautel; Eeva-Liisa Eskelinen; Manolis Fanto; Heinz Jungbluth
Journal:  Autophagy       Date:  2021-08-19       Impact factor: 13.391
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.