Literature DB >> 16687521

PANK2 mutation screening recommended to confirm diagnosis of pantothenate kinase-associated neurodegeneration.

A Gregory, S J Hayflick.   

Abstract

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Year:  2006        PMID： 16687521      PMCID： PMC7975753     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN： 0195-6108            Impact factor:   3.825


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  1 in total

1.  Pantothenate kinase-associated neurodegeneration with increased lentiform nuclei cerebral blood flow.

Authors:  M Koyama; A Yagishita
Journal:  AJNR Am J Neuroradiol       Date:  2006-01       Impact factor: 3.825
  1 in total
  2 in total

1.  β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Authors:  Susan J Hayflick; Michael C Kruer; Allison Gregory; Tobias B Haack; Manju A Kurian; Henry H Houlden; James Anderson; Nathalie Boddaert; Lynn Sanford; Sami I Harik; Vasuki H Dandu; Nardo Nardocci; Giovanna Zorzi; Todd Dunaway; Mark Tarnopolsky; Steven Skinner; Kenton R Holden; Steven Frucht; Era Hanspal; Connie Schrander-Stumpel; Cyril Mignot; Delphine Héron; Dawn E Saunders; Margaret Kaminska; Jean-Pierre Lin; Karine Lascelles; Stephan M Cuno; Esther Meyer; Barbara Garavaglia; Kailash Bhatia; Rajith de Silva; Sarah Crisp; Peter Lunt; Martyn Carey; John Hardy; Thomas Meitinger; Holger Prokisch; Penelope Hogarth
Journal:  Brain       Date:  2013-05-17       Impact factor: 13.501

Review 2.  Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.

Authors:  Karim Elhennawy; Seif Reda; Christian Finke; Luitgard Graul-Neumann; Paul-Georg Jost-Brinkmann; Theodosia Bartzela
Journal:  J Med Case Rep       Date:  2017-08-15
  2 in total

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