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Books on the topic 'Ataxie de Friedreich'

Author: Grafiati

Published: 4 June 2021

Last updated: 19 February 2022

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1

Blaney, Bronagh Elizabeth. Dysarthria and Friedreich's ataxia. The author], 2004.

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2

Parker, James N., and Philip M. Parker. The official parent's sourcebook on Friedreich's ataxia. Edited by Icon Group International Inc and NetLibrary Inc. Icon Health Publications, 2002.

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3

Sweet FA: The autobiography of Alun Peredur Jones who suffers from Friedreich's ataxia, an inherited disease. Brynglas, 1989.

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4

Jones, Alun Peredur. Sweet FA: Hanes brwydr Alun Peredur Jones yn erbyn yr afiechyd Friedreich's ataxia. Cyhoeddiadau Mei, 1989.

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5

Parker, James N., and Philip M. Parker. Friedreich ataxia: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. ICON Health Publications, 2007.

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6

Byrnes, Theresa. The divine mistake: An autobiography. Pan Macmillan, 1999.

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7

The dandelion diary: The tricky art of walking. Human & Rousseau, 2006.

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8

finisher, Jiang Jianjing text, ed. Qi e nan hai: Ji shi qian lu wan yan qu zhe, wo xin yi ran chong man yang guang. Cheng bang wen hua shi ye gu fen you xian gong si, 2016.

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9

Mingzhu, ed. Yi gong sheng no yan lei: Yu wan zheng dui kang de shao nü Yaye de ri ji. Gao bao guo ji you xian gong si Taiwan fen gong si, 2006.

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10

Sŏng-nye, Han, ред. 1-litʻŏ ŭi nunmul majimak pʻyŏnji. Iden Sŭllibel, 2007.

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11

Kitō, Aya. 1-rittoru no namida: Nanbyō to tatakaitsuzukeru shōjo Aya no nikki. Gentōsha, 2005.

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12

writer, Lin Youyi, ed. Bai wan bu de ai: Nao wei huan dao fu qi = Millions of love. Zhonghua xiao nao wei suo zheng bing you xie hui, 2008.

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13

Timchenko, Lubov T. Triple repeat diseases of the nervous system. Kluwer Academic/Plenum Publishers, 2002.

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14

Ford, Gabrielle Nicole. Still dancing: A new stage, a different dance, making the world a better place one school at a time. Zoe Life Pub., 2009.

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15

National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison, ed. Ataxis de Friedreich. The Institutes, 2000.

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16

National Institute of Neurological Disorders and Stroke (U.S.), ed. Friedreich's ataxia. The Institute, 1999.

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17

National Institute of Neurological Disorders and Stroke (U.S.), ed. Friedreich's ataxia. The Institute, 1999.

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18

Friedreich's ataxia. The Institute, 1999.

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19

Shakkottai, Vikram G. Ataxias. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0014.

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Autosomal recessive cerebellar ataxias are a group of inherited neurological disorders with progressive balance and gait difficulties. In these disorders, cerebellar ataxia is often accompanied by eye movement abnormalities and peripheral nervous system involvement. A unifying mechanism for disease pathogenesis that is common to all the recessive ataxias likely does not exist. Nevertheless, some pathophysiological pathways are common to several autosomal recessive cerebellar ataxias. Specific gene defects in each disorder are summarized in the chapter. The most common recessively inherited ata

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20

Harding, A. E. Inherited Ataxias (Advances in Neurology). Lippincott Williams & Wilkins, 1992.

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21

E, Harding A., and Deufel Thomas, eds. Inherited ataxias. Raven Press, 1993.

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22

Fletcher, Nicholas. Tremor, ataxia, and cerebellar disorders. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0898.

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Tremors are characterized by rhythmic oscillations of one or more body parts. Although typically seen in the upper limbs, almost any area may be involved, including the trunk, head, facial muscles, and legs. Sometimes, tremor is not visible at all but may be heard or palpated, for example, in vocal or orthostatic tremor, respectively. In neurological practice, the diagnosis and treatment of tremor is an everyday problem. A common scenario is the distinction between essential tremor and Parkinson’s disease. In this chapter, the wide range of tremors are discussed, with their aetiolology, pathop

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23

Jolly, Elaine, Andrew Fry, and Afzal Chaudhry, eds. Genetics. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199230457.003.0010.

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Chapter 10 covers the basic science and clinical topics relating to genetics which trainees are required to learn as part of their basic training and demonstrate in the MRCP. It covers karyotype, mitosis, and meiosis, mechanisms of inheritance/disease transmission, mitochondrial disease, trinucleotide repeats and imprinting, investigative techniques in genetic medicine, Down syndrome, Klinefelter syndrome, Turner syndrome, neurofibromatosis, tuberous sclerosis, myotonic dystrophy, Friedreich ataxia, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, and Ehlers-Danlos syndrome.

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24

Publications, ICON Health. The Official Parent's Sourcebook on Friedreich's Ataxia: A Revised and Updated Directory for the Internet Age. ICON Health Publications, 2002.

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25

T, Timchenko Lubov, ed. Triple repeat diseases of the nervous system. Kluwer Academic/Plenum Publishers, 2002.

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26

1921-, Sobue Itsuro, ed. TRH and spinocerebellar degeneration. Elsevier, 1986.

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27

Pitt, Matthew. Pathophysiological correlations in neuropathies. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198754596.003.0004.

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This chapter begins with an explanation of the pathophysiological correlations between the recorded changes and the underlying diagnosis which allow classification into demyelinating and axonal neuropathy. Demyelinating neuropathies are discussed first. The extensive and ever expanding literature in hereditary neuropathies is highlighted. The different variants of the acute inflammatory demyelinating polyneuropathy encountered in children are discussed along with the electrodiagnostic criteria for the diagnosis. Chronic inflammatory demyelinating polyneuropathy is then covered, both in its cli

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