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Best matches for hereditary spastic paraplegia:

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks. de Souza PVS et al. Cerebellum. (2017)

Hereditary spastic paraplegia from 1880 to 2017: an historical review. Faber I et al. Arq Neuropsiquiatr. (2017)

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Estrada-Cuzcano A et al. Brain. (2017)

Search results

Items: 1 to 20 of 1847

1.

Hereditary spastic paraplegia type 35 in a family from Mali.

Landouré G, Dembélé K, Cissé L, Samassékou O, Diarra S, Bocoum A, Dembélé ME, Fischbeck KH, Guinto CO; from The H3Africa Consortium.

Am J Med Genet A. 2019 May 14. doi: 10.1002/ajmg.a.61179. [Epub ahead of print]

PMID:
31087769
2.

Stumbling, struggling, and shame due to spasticity: a qualitative study of adult persons with hereditary spastic paraplegia.

Kerstens HCJW, Satink T, Nijkrake MJ, De Swart BJM, Van Lith BJH, Geurts ACH, Nijhuis-van der Sanden MWG.

Disabil Rehabil. 2019 May 13:1-8. doi: 10.1080/09638288.2019.1610084. [Epub ahead of print]

PMID:
31079503
3.

[Analysis of KIAA0196 gene mutation in a family with hereditary spastic paraplegia].

Li G, Qing Y, Yang X, Lou J, Hu X, Yang C, Zhang J, He L, Li J, Wan C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):584-587. doi: 10.3760/cma.j.issn.1003-9406.2019.06.013. Chinese.

PMID:
31055811
4.

[Deletional variant of REEP1 gene in a pedigree affected with spastic paraplegia type 31].

Xu G, Niu Y, Chen S, Shu J, Dang L, Zhao P, Cai C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):581-583. doi: 10.3760/cma.j.issn.1003-9406.2019.06.012. Chinese.

PMID:
31055810
5.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

Saint-Val L, Courtin T, Charles P, Verny C, Catala M, Schiffmann R, Boespflug-Tanguy O, Mochel F.

AJNR Am J Neuroradiol. 2019 May;40(5):788-791. doi: 10.3174/ajnr.A6036. Epub 2019 Apr 25.

PMID:
31023660
6.

Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.

Peng F, Sun YM, Quan C, Wang J, Wu JJ.

Orphanet J Rare Dis. 2019 Apr 25;14(1):83. doi: 10.1186/s13023-019-1053-1.

7.

Mining for Oxysterols in Cyp7b1-/- Mouse Brain and Plasma: Relevance to Spastic Paraplegia Type 5.

Meljon A, Crick PJ, Yutuc E, Yau JL, Seckl JR, Theofilopoulos S, Arenas E, Wang Y, Griffiths WJ.

Biomolecules. 2019 Apr 13;9(4). pii: E149. doi: 10.3390/biom9040149.

8.

A new case of infantile-onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family.

Chukhrova AL, Akimova IA, Shchagina OA, Kadnikova VA, Ryzhkova OP, Polyakov AV.

Eur J Neurol. 2019 May;26(5):e61-e62. doi: 10.1111/ene.13880. No abstract available.

PMID:
30980493
9.

Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia.

van Lith BJH, den Boer JD, van de Warrenburg BPC, Weerdesteyn V, Geurts AC.

J Rehabil Med. 2019 Apr 10. doi: 10.2340/16501977-2556. [Epub ahead of print]

10.

Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C.

Finsterer J, Wakil SM, Laccone F.

J Clin Neurosci. 2019 Apr 5. pii: S0967-5868(19)30381-9. doi: 10.1016/j.jocn.2019.03.067. [Epub ahead of print]

PMID:
30962061
11.

A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia.

Chen Y, Cen Z, Zheng X, Xie F, Chen S, Luo W.

J Clin Neurol. 2019 Apr;15(2):271-272. doi: 10.3988/jcn.2019.15.2.271. No abstract available.

12.

Re: Comments on "Pure or Complex Hereditary Spastic Paraplegia Type 4?": The Authors Respond.

Yang J, Seo JY, Lee KW, Park HM.

J Clin Neurol. 2019 Apr;15(2):267. doi: 10.3988/jcn.2019.15.2.267. No abstract available.

13.

Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy.

Politi LS, Castellano A, Papinutto N, Mauro E, Pareyson D, Henry RG, Falini A, Salsano E.

Eur J Neurol. 2019 Apr 1. doi: 10.1111/ene.13959. [Epub ahead of print]

PMID:
30932272
14.

A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five.

Khundadze M, Ribaudo F, Hussain A, Rosentreter J, Nietzsche S, Thelen M, Winter D, Hoffmann B, Afzal MA, Hermann T, de Heus C, Piskor EM, Kosan C, Franzka P, von Kleist L, Stauber T, Klumperman J, Damme M, Proikas-Cezanne T, Hübner CA.

Neurobiol Dis. 2019 Mar 28;127:419-431. doi: 10.1016/j.nbd.2019.03.026. [Epub ahead of print]

PMID:
30930081
15.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28.

PMID:
30929741
16.

A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course.

Hong D, Cong L, Zhong S, Liu L, Xu Y, Zhang J.

Ann Clin Transl Neurol. 2019 Jan 4;6(3):610-614. doi: 10.1002/acn3.717. eCollection 2019 Mar.

17.

Pure or Complex Hereditary Spastic Paraplegia Type 4?

Finsterer J.

J Clin Neurol. 2019 Apr;15(2):265-266. doi: 10.3988/jcn.2019.15.2.265. Epub 2019 Mar 11. No abstract available.

18.

GLUT1 deficiency and pediatric-onset hereditary spastic paraplegia: A new association.

Verrotti A, Di Francesco L, Striano P.

Eur J Paediatr Neurol. 2019 Mar;23(2):233-234. doi: 10.1016/j.ejpn.2019.02.010. No abstract available.

PMID:
30876650
19.

[Common forms of hereditary spastic paraplegias].

Rudenskaya GE, Kadnikova VA, Ryzhkova OP.

Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(2):94-104. doi: 10.17116/jnevro201911902194. Russian.

PMID:
30874534
20.

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy.

Teinert J, Behne R, Wimmer M, Ebrahimi-Fakhari D.

J Inherit Metab Dis. 2019 Mar 10. doi: 10.1002/jimd.12084. [Epub ahead of print] Review.

PMID:
30854657

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