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Items: 1 to 20 of 74

1.

TRMT5 mutations are associated with features of complex hereditary spastic paraparesis.

Tarnopolsky MA, Brady L, Tetreault M; Care4Rare Canada Consortium.

Neurology. 2017 Nov 21;89(21):2210-2211. doi: 10.1212/WNL.0000000000004657. Epub 2017 Oct 11. No abstract available.

2.

Long-term results of selective dorsal rhizotomy for hereditary spastic paraparesis.

Kai M, Yongjie L, Ping Z.

J Clin Neurosci. 2014 Jan;21(1):116-20. doi: 10.1016/j.jocn.2013.04.020. Epub 2013 Oct 20.

PMID:
24153323
3.

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).

Hewamadduma C, McDermott C, Kirby J, Grierson A, Panayi M, Dalton A, Rajabally Y, Shaw P.

Neurogenetics. 2009 Apr;10(2):105-10. doi: 10.1007/s10048-008-0163-z. Epub 2008 Nov 26.

PMID:
19034539
4.

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.

Guidubaldi A, Piano C, Santorelli FM, Silvestri G, Petracca M, Tessa A, Bentivoglio AR.

Mov Disord. 2011 Feb 15;26(3):553-6. doi: 10.1002/mds.23552. Epub 2011 Mar 4.

PMID:
21381113
5.

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S.

J Med Genet. 2014 Feb;51(2):137-42. doi: 10.1136/jmedgenet-2013-102012. Epub 2013 Dec 6.

PMID:
24319291
6.

[Intrathecal baclofen in hereditary spastic paraparesis: benefits and limitations].

Lambrecq V, Muller F, Joseph PA, Cuny E, Mazaux JM, Barat M.

Ann Readapt Med Phys. 2007 Oct;50(7):577-81. Epub 2007 Feb 28. French.

PMID:
17368612
7.

Gait Patterns in Patients with Hereditary Spastic Paraparesis.

Serrao M, Rinaldi M, Ranavolo A, Lacquaniti F, Martino G, Leonardi L, Conte C, Varrecchia T, Draicchio F, Coppola G, Casali C, Pierelli F.

PLoS One. 2016 Oct 12;11(10):e0164623. doi: 10.1371/journal.pone.0164623. eCollection 2016.

8.

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P.

Neurology. 2007 Jul 24;69(4):368-75.

PMID:
17646629
9.

Autosomal recessive hereditary spastic paraparesis with thin corpus callosum; report of two sisters.

Vucic S, Lye T, Dunn G, Corbett A.

J Clin Neurosci. 2004 May;11(4):427-30.

PMID:
15080965
10.

Familial spastic paraparesis: a case of a mitochondrial disorder.

Beltran RS, Coker SB.

Pediatr Neurosurg. 1990-1991;16(1):40-2.

PMID:
1966825
11.

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

de Souza PVS, de Rezende Pinto WBV, de Rezende Batistella GN, Bortholin T, Oliveira ASB.

Cerebellum. 2017 Apr;16(2):525-551. doi: 10.1007/s12311-016-0803-z. Review.

PMID:
27271711
12.

Recurrent inhibition in human spinal spasticity.

Mazzocchio R, Rossi A.

Ital J Neurol Sci. 1989 Jun;10(3):337-47.

PMID:
2767942
13.

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.

Vantaggiato C, Crimella C, Airoldi G, Polishchuk R, Bonato S, Brighina E, Scarlato M, Musumeci O, Toscano A, Martinuzzi A, Santorelli FM, Ballabio A, Bresolin N, Clementi E, Bassi MT.

Brain. 2013 Oct;136(Pt 10):3119-39. doi: 10.1093/brain/awt227. Epub 2013 Sep 11.

14.

No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis.

Karlstrom H, Kwok JB, Gregory GC, Hallupp M, Brooks WS, Schofield PR.

Neuroreport. 2007 Aug 6;18(12):1267-9.

PMID:
17632280
15.

De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL.

Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27.

PMID:
25265257
16.

ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy.

Vantaggiato C, Clementi E, Bassi MT.

Autophagy. 2014 Feb;10(2):374-5. doi: 10.4161/auto.27173. Epub 2013 Nov 26.

17.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A.

Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240.

18.

[Two cases of familial spastic paraparesis with amyotrophy of the hands].

Yamada T, Tashiro K, Moriwaka F, Fujiki N, Ito K, Honma S, Matsuura T, Doi S.

No To Shinkei. 1989 Jun;41(6):583-8. Review. Japanese.

PMID:
2679823
19.

Intrathecal baclofen in hereditary spastic paraparesis.

Meythaler JM, Steers WD, Tuel SM, Cross LL, Sesco DC, Haworth CS.

Arch Phys Med Rehabil. 1992 Sep;73(9):794-7.

PMID:
1514885
20.

Superficial warming and cooling of the leg affects walking speed and neuromuscular impairments in people with spastic paraparesis.

Denton A, Bunn L, Hough A, Bugmann G, Marsden J.

Ann Phys Rehabil Med. 2016 Dec;59(5-6):326-332. doi: 10.1016/j.rehab.2016.04.006. Epub 2016 Jun 1.

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