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Results: 1 to 20 of 105

Similar articles for PubMed (Select 23233086)

1.

SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.

Terada T, Kono S, Ouchi Y, Yoshida K, Hamaya Y, Kanaoka S, Miyajima H.

Ann Nucl Med. 2013 Apr;27(3):303-8. doi: 10.1007/s12149-012-0673-5. Epub 2012 Dec 12.

PMID:
23233086
2.

Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.

Albin RL, Koeppe RA, Rainier S, Fink JK.

J Neurogenet. 2008;22(4):289-94. doi: 10.1080/01677060802337307.

3.

Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.

Hedera P, Fenichel GM, Blair M, Haines JL.

Arch Neurol. 2004 Oct;61(10):1600-3.

PMID:
15477516
5.

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.

6.

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
7.

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
8.

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A.

Arch Neurol. 2004 Dec;61(12):1867-72.

PMID:
15596607
9.

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.

Abel A, Fonknechten N, Hofer A, Dürr A, Cruaud C, Voit T, Weissenbach J, Brice A, Klimpe S, Auburger G, Hazan J.

Neurogenetics. 2004 Dec;5(4):239-43. Epub 2004 Oct 28.

PMID:
15517445
10.

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
11.

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.

Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, Krabbe K, Nørremølle A, Eiberg H, Søndergård H, Dam M, Rehfeld JF, Krarup C, Paulson OB, Hasholt L, Sørensen SA.

Eur J Neurol. 2004 Dec;11(12):817-24.

PMID:
15667412
12.

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J.

Ann Neurol. 2007 Dec;62(6):656-65.

PMID:
18067136
13.

Hereditary spastic paraplegia 3A associated with axonal neuropathy.

Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámecník J, Ceulemans B, Erichsen AK, Björck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, De Jonghe P.

Arch Neurol. 2007 May;64(5):706-13.

PMID:
17502470
14.

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
15.

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.

16.

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, de Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappatà S, De Michele G.

J Neurol. 2009 Aug;256(8):1252-7. doi: 10.1007/s00415-009-5109-3. Epub 2009 Apr 12.

PMID:
19363635
17.

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A.

Neurology. 2006 Jan 10;66(1):112-4.

PMID:
16401858
18.

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia.

Wilkinson PA, Hart PE, Patel H, Warner TT, Crosby AH.

J Neurol Sci. 2003 Dec 15;216(1):43-5.

PMID:
14607301
19.

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
20.

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.

Park SY, Ki CS, Kim HJ, Kim JW, Sung DH, Kim BJ, Lee WY.

Arch Neurol. 2005 Jul;62(7):1118-21.

PMID:
16009769
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