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Results: 1 to 20 of 54

Select item 228178151.

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.

Lan MY, Fu SC, Chang YY, Wu-Chou YH, Lai SC, Chen RS, Lu CS.

J Formos Med Assoc. 2012 Jul;111(7):380-5. doi: 10.1016/j.jfma.2011.06.016. Epub 2012 May 30.

PMID:: 22817815; [PubMed - indexed for MEDLINE]

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Select item 225815522.

The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.

Magariello A, Tortorella C, Citrigno L, Patitucci A, Tortelli R, Mazzei R, Conforti FL, Ungaro C, Sproviero W, Gambardella A, Muglia M.

Muscle Nerve. 2012 Jun;45(6):919-20. doi: 10.1002/mus.23360. No abstract available.

PMID:: 22581552; [PubMed - indexed for MEDLINE]

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Select item 223405993.

The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.

Leonardis L, Auer-Grumbach M, Papić L, Zidar J.

Eur J Neurol. 2012 Jul;19(7):992-8. doi: 10.1111/j.1468-1331.2012.03665.x. Epub 2012 Feb 16.

PMID:: 22340599; [PubMed - indexed for MEDLINE]

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Select item 217257144.

Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.

Sánchez-Ferrero E, Coto E, Corao AI, Díaz M, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, De Munaín AL, Morís G, Infante J, Del Castillo E, Márquez C, Alvarez V.

J Neurol. 2012 Feb;259(2):246-50. doi: 10.1007/s00415-011-6155-1. Epub 2011 Jul 2.

PMID:: 21725714; [PubMed - indexed for MEDLINE]

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Select item 215502425.

Fusing a lasting relationship between ER tubules.

Moss TJ, Daga A, McNew JA.

Trends Cell Biol. 2011 Jul;21(7):416-23. doi: 10.1016/j.tcb.2011.03.009. Epub 2011 May 6. Review.

PMID:: 21550242; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 214195686.

Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.

Du J, Hu YC, Tang BS, Chen C, Luo YY, Zhan ZX, Zhao GH, Jiang H, Xia K, Shen L.

Clin Neurol Neurosurg. 2011 Jul;113(6):480-2. doi: 10.1016/j.clineuro.2011.02.011. Epub 2011 Mar 17.

PMID:: 21419568; [PubMed - indexed for MEDLINE]

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Select item 213367857.

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

Orlacchio A, Montieri P, Babalini C, Gaudiello F, Bernardi G, Kawarai T.

J Neurol. 2011 Jul;258(7):1361-3. doi: 10.1007/s00415-011-5934-z. Epub 2011 Feb 19. No abstract available.

PMID:: 21336785; [PubMed - indexed for MEDLINE]

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Select item 213214938.

Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.

Al-Maawali A, Rolfs A, Klingenhaeger M, Yoon G.

J Clin Neuromuscul Dis. 2011 Mar;12(3):143-6. doi: 10.1097/CND.0b013e318209efc6.

PMID:: 21321493; [PubMed - indexed for MEDLINE]

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Select item 212202949.

Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A.

Byrnes LJ, Sondermann H.

Proc Natl Acad Sci U S A. 2011 Feb 8;108(6):2216-21. doi: 10.1073/pnas.1012792108. Epub 2011 Jan 10.

PMID:: 21220294; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2119467910.

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

Guelly C, Zhu PP, Leonardis L, Papić L, Zidar J, Schabhüttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Fröhlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M.

Am J Hum Genet. 2011 Jan 7;88(1):99-105. doi: 10.1016/j.ajhg.2010.12.003. Epub 2010 Dec 30.

PMID:: 21194679; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2094781311.

Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.

Kwon MJ, Lee ST, Kim JW, Sung DH, Ki CS.

Ann Clin Lab Sci. 2010 Fall;40(4):375-9.

PMID:: 20947813; [PubMed - indexed for MEDLINE]

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Select item 2093228312.

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia.

BMC Neurol. 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89.

PMID:: 20932283; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2081679313.

The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.

Botzolakis EJ, Zhao J, Gurba KN, Macdonald RL, Hedera P.

Mol Cell Neurosci. 2011 Jan;46(1):122-35. doi: 10.1016/j.mcn.2010.08.012. Epub 2010 Sep 21.

PMID:: 20816793; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2055056314.

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.

Battini R, Fogli A, Borghetti D, Michelucci A, Perazza S, Baldinotti F, Conidi ME, Ferreri MI, Simi P, Cioni G.

Eur J Neurol. 2011 Jan;18(1):150-7. doi: 10.1111/j.1468-1331.2010.03102.x.

PMID:: 20550563; [PubMed - indexed for MEDLINE]

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Select item 2020044715.

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.

Park SH, Zhu PP, Parker RL, Blackstone C.

J Clin Invest. 2010 Apr;120(4):1097-110. doi: 10.1172/JCI40979.

PMID:: 20200447; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 1976848316.

Complex phenotype in an Italian family with a novel mutation in SPG3A.

de Leva MF, Filla A, Criscuolo C, Tessa A, Pappatà S, Quarantelli M, Bilo L, Peluso S, Antenora A, Longo D, Santorelli FM, De Michele G.

J Neurol. 2010 Mar;257(3):328-31. doi: 10.1007/s00415-009-5311-3. Epub 2009 Sep 19.

PMID:: 19768483; [PubMed - indexed for MEDLINE]

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Select item 1973598717.

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.

Fusco C, Frattini D, Farnetti E, Nicoli D, Casali B, Fiorentino F, Nuccitelli A, Giustina ED.

Brain Dev. 2010 Aug;32(7):592-4. doi: 10.1016/j.braindev.2009.08.003. Epub 2009 Sep 6.

PMID:: 19735987; [PubMed - indexed for MEDLINE]

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Select item 1973002418.

Novel SPG3A and SPG4 mutations in two patients with Silver syndrome.

Salameh JS, Shenoy AM, David WS.

J Clin Neuromuscul Dis. 2009 Sep;11(1):57-9. doi: 10.1097/CND.0b013e3181ae3c06.

PMID:: 19730024; [PubMed - indexed for MEDLINE]

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Select item 1965224319.

Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.

Chan KY, Ching CK, Mak CM, Lam CW, Chan AY.

Hong Kong Med J. 2009 Aug;15(4):304-7.

PMID:: 19652243; [PubMed - indexed for MEDLINE]

Free Article

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Select item 1957302020.

Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum.

Muriel MP, Dauphin A, Namekawa M, Gervais A, Brice A, Ruberg M.

J Neurochem. 2009 Sep;110(5):1607-16. doi: 10.1111/j.1471-4159.2009.06258.x. Epub 2009 Jul 1.

PMID:: 19573020; [PubMed - indexed for MEDLINE]

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10 free full-text articles in PubMed Central

Review Fusing a lasting relationship between ER tubules. [Trends Cell Biol. 2011]
Review Fusing a lasting relationship between ER tubules.
Moss TJ, Daga A, McNew JA. Trends Cell Biol. 2011 Jul; 21(7):416-23. Epub 2011 May 6.
Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A. [Proc Natl Acad Sci U S A. 2011]
Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A.
Byrnes LJ, Sondermann H. Proc Natl Acad Sci U S A. 2011 Feb 8; 108(6):2216-21. Epub 2011 Jan 10.
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. [Am J Hum Genet. 2011]
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Guelly C, Zhu PP, Leonardis L, Papić L, Zidar J, Schabhüttl M, Strohmaier H, Weis J, Strom TM, Baets J, et al. Am J Hum Genet. 2011 Jan 7; 88(1):99-105. Epub 2010 Dec 30.

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