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Items: 1 to 20 of 82

1.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS; COMMITTEE ON GENETICS, AND; AMERICAN COLLEGE OF MEDICAL GENETICS AND; GENOMICS SOCIAL; ETHICAL; LEGAL ISSUES COMMITTEE.

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

2.

[Japan spastic paraplegia research consortium (JASPAC)].

Takiyama Y, Ishiura H, Shimazaki H, Namekawa M, Takahashi Y, Goto J, Tsuji S, Nishizawa M.

Rinsho Shinkeigaku. 2010 Nov;50(11):931-4. Japanese.

PMID:
21921516
3.

Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.

Fei QZ, Tang WG, Rong TY, Tang HD, Liu JR, Guo ZL, Fu Y, Xiao Q, Wang XJ, He SB, Cao L, Chen SD.

Eur J Neurol. 2011 Sep;18(9):1194-6. doi: 10.1111/j.1468-1331.2011.03358.x. Epub 2011 Feb 8.

PMID:
21834905
4.

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G.

Hum Mutat. 2011 Oct;32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9.

PMID:
21618648
5.

Specific pattern of early white-matter changes in pure hereditary spastic paraplegia.

Duning T, Warnecke T, Schirmacher A, Schiffbauer H, Lohmann H, Mohammadi S, Young P, Deppe M.

Mov Disord. 2010 Sep 15;25(12):1986-92. doi: 10.1002/mds.23211.

PMID:
20669295
6.

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

de Bot ST, van den Elzen RT, Mensenkamp AR, Schelhaas HJ, Willemsen MA, Knoers NV, Kremer HP, van de Warrenburg BP, Scheffer H.

J Neurol Neurosurg Psychiatry. 2010 Oct;81(10):1073-8. doi: 10.1136/jnnp.2009.201103. Epub 2010 Jun 20.

PMID:
20562464
7.

Bladder dysfunction in hereditary spastic paraplegia: what to expect?

Braschinsky M, Zopp I, Kals M, Haldre S, Gross-Paju K.

J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):263-6. doi: 10.1136/jnnp.2009.180331. Epub 2009 Sep 2.

PMID:
19726407
8.

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM.

Brain. 2009 Jun;132(Pt 6):1577-88. doi: 10.1093/brain/awp056. Epub 2009 Mar 31.

PMID:
19339254
9.

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.

Scuderi C, Fichera M, Calabrese G, Elia M, Amato C, Savio M, Borgione E, Vitello GA, Musumeci SA.

J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):440-3. doi: 10.1136/jnnp.2008.154807.

PMID:
19289482
10.

Pleiotropic effects of spastin on neurite growth depending on expression levels.

Riano E, Martignoni M, Mancuso G, Cartelli D, Crippa F, Toldo I, Siciliano G, Di Bella D, Taroni F, Bassi MT, Cappelletti G, Rugarli EI.

J Neurochem. 2009 Mar;108(5):1277-88. doi: 10.1111/j.1471-4159.2009.05875.x. Epub 2009 Jan 29.

11.

Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations.

Erichsen AK, Server A, Landrø NI, Sandvik L, Tallaksen CM.

J Neurol Sci. 2009 Feb 15;277(1-2):124-9. doi: 10.1016/j.jns.2008.10.030. Epub 2008 Dec 12.

PMID:
19084842
12.

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, Carriere N, Paquis V, Depienne C, Durr A, Stevanin G, Brice A.

Hum Mutat. 2009 Feb;30(2):E376-85. doi: 10.1002/humu.20920.

PMID:
18853458
13.

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.

du Montcel ST, Charles P, Ribai P, Goizet C, Le Bayon A, Labauge P, Guyant-Maréchal L, Forlani S, Jauffret C, Vandenberghe N, N'guyen K, Le Ber I, Devos D, Vincitorio CM, Manto MU, Tison F, Hannequin D, Ruberg M, Brice A, Durr A.

Brain. 2008 May;131(Pt 5):1352-61. doi: 10.1093/brain/awn059. Epub 2008 Mar 31.

PMID:
18378516
14.

Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia.

Solowska JM, Morfini G, Falnikar A, Himes BT, Brady ST, Huang D, Baas PW.

J Neurosci. 2008 Feb 27;28(9):2147-57. doi: 10.1523/JNEUROSCI.3159-07.2008.

15.

Hereditary spastic paraplegias: an update.

Depienne C, Stevanin G, Brice A, Durr A.

Curr Opin Neurol. 2007 Dec;20(6):674-80. Review.

PMID:
17992088
16.

Spastic paraplegia in Romania: high prevalence of SPG4 mutations.

Orlacchio A, Patrono C, Borreca A, Babalini C, Bernardi G, Kawarai T.

J Neurol Neurosurg Psychiatry. 2008 May;79(5):606-7. Epub 2007 Oct 30. No abstract available.

PMID:
17971434
17.

Mental deficiency in three families with SPG4 spastic paraplegia.

Ribaï P, Depienne C, Fedirko E, Jothy AC, Viveweger C, Hahn-Barma V, Brice A, Durr A.

Eur J Hum Genet. 2008 Jan;16(1):97-104. Epub 2007 Oct 24.

18.

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.

Schickel J, Pamminger T, Ehrsam A, Münch S, Huang X, Klopstock T, Kurlemann G, Hemmerich P, Dubiel W, Deufel T, Beetz C.

Eur J Neurol. 2007 Dec;14(12):1322-8. Epub 2007 Oct 3.

PMID:
17916079
19.

Motor and somatosensory evoked potentials in Autosomal Dominant Hereditary Spastic Paraparesis (ADHSP) linked to chromosome 2p, SPG4.

Sartucci F, Tovani S, Murri L, Sagliocco L.

Brain Res Bull. 2007 Sep 28;74(4):243-9. Epub 2007 Jul 17.

PMID:
17720546
20.

[Late-onset sporadic case of SPG4 (1726T>C mutant) accompanied by polyneuropathy with diabetes mellitus].

Fukunaga M, Ohyagi Y, Morita M, Shigeto H, Taniwaki T, Kira J.

Rinsho Shinkeigaku. 2007 Jun;47(6):359-61. Japanese.

PMID:
17633111

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