Literature DB >> 28258281

Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea.

H K Kim1, C S Ki2, Y J Kim3, M S Lee4.   

Abstract

Entities:  

Keywords:  Fundoscopic Examination; Globus Pallidus; Hypochromic Microcytic Anemia; Optical Coherence Tomography; Superior Cerebellar Peduncle

Mesh：

Substances：

Year:  2017        PMID： 28258281     DOI： 10.1007/s00062-017-0573-0

Source DB:  PubMed          Journal:  Clin Neuroradiol        ISSN： 1869-1439            Impact factor:   3.649


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  10 in total

1.  Cortical pencil lining in neuroferritinopathy: a diagnostic clue.

Authors:  Amit Batla; Matthew E Adams; Roberto Erro; Christos Ganos; Bettina Balint; Niccolo E Mencacci; Kailash P Bhatia
Journal:  Neurology       Date:  2015-04-01       Impact factor: 9.910

2.  A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus.

Authors:  M Daimon; T Kato; T Kawanami; M Tominaga; M Igarashi; K Yamatani; H Sasaki
Journal:  Biochem Biophys Res Commun       Date:  1995-12-05       Impact factor: 3.575

3.  Aceruloplasminemia: retinal histopathologic manifestations and iron-mediated melanosome degradation.

Authors:  Natalie Wolkow; Ying Song; Ting-Di Wu; Jiang Qian; Jean-Luc Guerquin-Kern; Joshua L Dunaief
Journal:  Arch Ophthalmol       Date:  2011-11

Review 4.  Neurodegenerations with Brain Iron Accumulation.

Authors:  Susanne A Schneider
Journal:  Parkinsonism Relat Disord       Date:  2015-08-14       Impact factor: 4.891

5.  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

6.  T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.

Authors:  A McNeill; D Birchall; S J Hayflick; A Gregory; J F Schenk; E A Zimmerman; H Shang; H Miyajima; P F Chinnery
Journal:  Neurology       Date:  2008-04-29       Impact factor: 9.910

7.  Aceruloplasminemia.

Authors:  Hiroaki Miyajima
Journal:  Neuropathology       Date:  2014-08-28       Impact factor: 1.906

Review 8.  Ceruloplasmin in neurodegenerative diseases.

Authors:  Sarah J Texel; Xueying Xu; Z Leah Harris
Journal:  Biochem Soc Trans       Date:  2008-12       Impact factor: 5.407

9.  Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.

Authors:  Michael C Kruer; Reema Paudel; Wendy Wagoner; Lynn Sanford; Eleanna Kara; Allison Gregory; Tom Foltynie; Andrew Lees; Kailash Bhatia; John Hardy; Susan J Hayflick; Henry Houlden
Journal:  Neurosci Lett       Date:  2012-06-25       Impact factor: 3.046

Review 10.  Neurodegeneration with brain iron accumulation: diagnosis and management.

Authors:  Penelope Hogarth
Journal:  J Mov Disord       Date:  2015-01-13
  10 in total
  2 in total

Review 1.  Cerebral Iron Deposition in Neurodegeneration.

Authors:  Petr Dusek; Tim Hofer; Jan Alexander; Per M Roos; Jan O Aaseth
Journal:  Biomolecules       Date:  2022-05-17

2.  A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients.

Authors:  Wan-Qing Xu; Wang Ni; Rou-Min Wang; Yi Dong; Zhi-Ying Wu
Journal:  Metab Brain Dis       Date:  2021-08-04       Impact factor: 3.584
  2 in total

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