The Role of Iron in Retinal Diseases

Humana Press. Studies on Retinal and Choroidal Disorders. Oxidative Stress in Applied Basic Research and Clinical Practice, 2012, 259-275,Isbn: 978-1-61779-606-7, Doi: 10.1007/978-1-61779-606-7_12

Sonia Mehta and Joshua L. Dunaief.

Keywords: Iron, free radical generator, retina, macula, oxidative damage, aceruloplasminemia, Friedreich’s ataxia, pantothenate kinase-associated neurodegeneration, iron overload.

Biochemical Characterization of Iron-Sulfur Cluster Assembly in the Scaffold IscU of Escherichia coli.

Biochemistry (Mosc). 2012 Feb;77(2):135-42.

Wu G, Li L.
College of Life Science, Zhejiang University, Hangzhou, 310058, China.

Keywords: Iron-sulfur cluster, IscU, iron, cysteine, environmental pH, IscS, first order reaction, mixed order reaction, zero order reaction, apo-IscU.

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Effector role reversal during evolution: the case of frataxin in Fe-S cluster biosynthesis

Biochemistry, Just Accepted Manuscript, DOI: 10.1021/bi201628j, Publication Date (Web): February 21, 2012

Jennifer Bridwell-Rabb, Clara Iannuzzi, Annalisa Pastore, and David P. Barondeau

Keywords: frataxin (FXN), Friedreich’s ataxia, NFS1-ISD11-ISCU2-FXN (SDUF) core Fe-S assembly complex, cysteine desulfurase, Fe-S cluster biosynthesis.

Cognition in Friedreich Ataxia.

Cerebellum. 2012 Feb 16.

Nieto A, Correia R, de Nóbrega E, Montón F, Hess S, Barroso J.
School of Psychology, University of La Laguna, 38205, La Laguna, Tenerife, Spain,

Keywords: Friedreich ataxia (FRDA), cognitive status, motor problems, processing speed, attention, working memory, executive functions, verbal and visual memory, visuoperceptive and visuospatial skills, visuoconstructive functions, language, depression inventory, executive problems, parieto-temporal dysfunction, mild anomalies in cerebral hemispheres, cerebro-cerebellar circuits..

Histone Deacetylase Complexes Promote Trinucleotide Repeat Expansions

PLoS Biol 10(2): e1001257. doi:10.1371/journal.pbio.1001257

Kim Debacker#, Aisling Frizzell#, Olive Gleeson, Lucy Kirkham-McCarthy, Tony Mertz, Robert S. Lahue*
Centre for Chromosome Biology, School of Natural Sciences, National University of Ireland Galway, Galway, Ireland

OPEN ACCESS

Currently some researchers and pharmaceutical labs are testing HDACi for relief of the transcription-related consequences of expansions in triplet expansion diseases, they may also have the beneficial side effect of reducing the risk of further somatic expansion.

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Mitochondrial disorders: a review of anesthetic considerations

Middle East Journal of Anesthesiology, (M.E.J. ANESTH 21 (2), 2011), 02/20/2012

HERODOTOS ELLINAS* AND ELIZABETH A.M. FROST**,
* Assistant Professor, Department of Anesthesiology, Medical College of Wisconsin, Milwaukee, WI.
** Professor of Anesthesia, Mount Sinai Medical Center, New York, NY.

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Discussions about treatment restrictions in chronic neurologic diseases: A structured review

Neurology February 21, 2012 78:590-597

Antje A. Seeber, Albert Hijdra, Marinus Vermeulen, and Dick L. Willems
Department of Neurology (A.A.S., A.H., and M.V.) and Department of Medical Ethics, Division of Public Health & Epidemiology (A.A.S. and D.L.W.), Academic Medical Center, University of Amsterdam, the Netherlands.

Anticipation of such situations may be beneficial for patients and their families.

Uses of the postural stability test for differential diagnosis of hereditary ataxias.

J Neurol Sci. 2012 Feb 13. http://dx.doi.org/10.1016/j.jns.2012.01.022.

J. Schwabova a, F. Zahalka c, V. Komarek b, T. Maly c, P. Hrasky c, T. Gryc c, O. Cakrt d, A. Zumrova b

a Department of Neurology, Charles University in Prague, 2nd Faculty of Medicine and the Motol University Hospital, V Úvalu 84, Prague 5, 150 06, Czech republic
b Department of Paediatric Neurology, Charles University in Prague, 2nd Faculty of Medicine and the Motol University Hospital, V Úvalu 84, Prague 5, 150 06, Czech republic
c Research Sport Center, Charles University in Prague, Faculty of Physical Education and Sport, Jose Martího 31, Prague 6, 162 52, Czech republic
d Department of Rehabilitation and Sport Medicine, Charles University in Prague, 2nd Faculty of Medicine and the Motol University Hospital, V Úvalu 84, Prague 5, 150 06, Czech republic

Keywords: Friedreich's ataxia (FRDA), spinocerebellar ataxia type 2 (SCA 2), posturographic examination, differential diagnosis.

The Autosomal Recessive Cerebellar Ataxias

N Engl J Med 2012; 366:636-646, February 16, 2012

Mathieu Anheim, M.D., Ph.D., Christine Tranchant, M.D., and Michel Koenig, M.D., Ph.D.

Review Article

Substantia nigra hypoechogenicity in Friedreich ataxia.

Mov Disord 2012 Feb; 27(2):332-3.DOI: 10.1002/mds.23989

Stockner H, Sojer M, Hering S, Nachbauer W, Seppi K, Schmidauer C, Poewe W, Boesch SM
Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.

No abstract is available for this article.