Literature DB >> 35937484

Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report.

Viviana Torres1, Cèlia Painous1, Pilar Santacruz1, Aurora Sánchez2, Cristina Sanz3, Josep M Grau-Junyent4,5,6, Esteban Muñoz1,5,6,7.   

Abstract

Entities:  

Keywords:  McLeod syndrome; chorea; creatine kinase; neuroacanthocytosis

Year:  2022        PMID： 35937484      PMCID： PMC9346248          DOI： 10.1002/mdc3.13502

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  9 in total

1.  McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.

Authors:  M T Dotti; C Battisti; A Malandrini; A Federico; J P Rubio; G Circiarello; A P Monaco
Journal:  Mov Disord       Date:  2000-11       Impact factor: 10.338

2.  White matter abnormalities on MRI in neuroacanthocytosis.

Authors:  D J Nicholl; I Sutton; M T Dotti; S G Supple; A Danek; M Lawden
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-08       Impact factor: 10.154

3.  The McLeod syndrome without acanthocytes.

Authors:  Jirí Klempír; Jan Roth; Katerina Zárubová; Martin Písacka; Natasa Spacková; Louise Tilley
Journal:  Parkinsonism Relat Disord       Date:  2007-09-17       Impact factor: 4.891

Review 4.  Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review.

Authors:  Eileen Roulis; Catherine Hyland; Robert Flower; Christoph Gassner; Hans H Jung; Beat M Frey
Journal:  JAMA Neurol       Date:  2018-12-01       Impact factor: 18.302

5.  McLeod neuroacanthocytosis: genotype and phenotype.

Authors:  A Danek; J P Rubio; L Rampoldi; M Ho; C Dobson-Stone; F Tison; W A Symmans; M Oechsner; W Kalckreuth; J M Watt; A J Corbett; H H Hamdalla; A G Marshall; I Sutton; M T Dotti; A Malandrini; R H Walker; G Daniels; A P Monaco
Journal:  Ann Neurol       Date:  2001-12       Impact factor: 10.422

6.  Phenotypic variability of a distinct deletion in McLeod syndrome.

Authors:  Marcelo Miranda; Claudia Castiglioni; Beat M Frey; Martin Hergersberg; Adrian Danek; Hans H Jung
Journal:  Mov Disord       Date:  2007-07-15       Impact factor: 10.338

7.  Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein.

Authors:  Yuka Urata; Masayuki Nakamura; Natsuki Sasaki; Nari Shiokawa; Yoshiaki Nishida; Kaoru Arai; Hanae Hiwatashi; Izumi Yokoyama; Shinsuke Narumi; Yasuo Terayama; Takenobu Murakami; Yoshikazu Ugawa; Hiroki Sakamoto; Satoshi Kaneko; Yusuke Nakazawa; Ryo Yamasaki; Shoko Sadashima; Toshiaki Sakai; Hiroaki Arai; Akira Sano
Journal:  Neurol Genet       Date:  2019-04-22

8.  "Neuroacanthocytosis" - Overdue for a Taxonomic Update.

Authors:  Ruth H Walker; Adrian Danek
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2021-01-11

9.  XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.

Authors:  Jae-Sook Park; Aaron M Neiman
Journal:  Mol Biol Cell       Date:  2020-08-26       Impact factor: 4.138
  9 in total

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