Literature DB >> 12843330

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum.

A Mubaidin, E Roberts, D Hampshire, M Dehyyat, A Shurbaji, M Mubaidien, A Jamil, A Al-Din, A Kurdi, C G Woods.   

Abstract

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Year:  2003        PMID： 12843330      PMCID： PMC1735513          DOI： 10.1136/jmg.40.7.543

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  17 in total

1.  Movement disorder due to aceruloplasminemia and incorrect diagnosis of hereditary hemochromatosis.

Authors:  Alfonso Fasano; Anna Rita Bentivoglio; Cesare Colosimo
Journal:  J Neurol       Date:  2007-02-14       Impact factor: 4.849

Review 2.  Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.

Authors:  Manju A Kurian; Susan J Hayflick
Journal:  Int Rev Neurobiol       Date:  2013       Impact factor: 3.230

3.  The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature.

Authors:  Amal Y Kentab; Hamdy H Hassan; Muddathir H A Hamad; Ahmed Alhumidi
Journal:  Sudan J Paediatr       Date:  2014

Review 4.  Parkinson's disease and iron.

Authors:  Hideki Mochizuki; Chi-Jing Choong; Kousuke Baba
Journal:  J Neural Transm (Vienna)       Date:  2020-02-05       Impact factor: 3.575

Review 5.  Differential diagnosis of chorea.

Authors:  Ruth H Walker
Journal:  Curr Neurol Neurosci Rep       Date:  2011-08       Impact factor: 5.081

6.  Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.

Authors:  Yu-hu Zhang; Bei-sha Tang; Ai-ling Zhao; Kun Xia; Zhi-gao Long; Ji-feng Guo; Shawn K Westaway; Susan J Hayflick
Journal:  Mov Disord       Date:  2005-07       Impact factor: 10.338

Review 7.  Clinical and genetic delineation of neurodegeneration with brain iron accumulation.

Authors:  A Gregory; B J Polster; S J Hayflick
Journal:  J Med Genet       Date:  2008-11-03       Impact factor: 6.318

Review 8.  Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.

Authors:  Dena G Hernandez; Xylena Reed; Andrew B Singleton
Journal:  J Neurochem       Date:  2016-04-18       Impact factor: 5.372

9.  PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Authors:  Neil V Morgan; Shawn K Westaway; Jenny E V Morton; Allison Gregory; Paul Gissen; Scott Sonek; Hakan Cangul; Jason Coryell; Natalie Canham; Nardo Nardocci; Giovanna Zorzi; Shanaz Pasha; Diana Rodriguez; Isabelle Desguerre; Amar Mubaidin; Enrico Bertini; Richard C Trembath; Alessandro Simonati; Carolyn Schanen; Colin A Johnson; Barbara Levinson; C Geoffrey Woods; Beth Wilmot; Patricia Kramer; Jane Gitschier; Eamonn R Maher; Susan J Hayflick
Journal:  Nat Genet       Date:  2006-06-18       Impact factor: 38.330

10.  C19orf12 mutation leads to a pallido-pyramidal syndrome.

Authors:  Michael C Kruer; Mustafa A Salih; Catherine Mooney; Jawahir Alzahrani; Salah A Elmalik; Mohammad M Kabiraj; Arif O Khan; Reema Paudel; Henry Houlden; Hamid Azzedine; Fowzan Alkuraya
Journal:  Gene       Date:  2013-12-17       Impact factor: 3.688
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