IngentaConnect Search Results

Identification of novel spartin-interactors shows spartin is a multifunctional protein

Authors: Milewska, Malgorzata; McRedmond, James; Byrne, Paula Catherine

Source: Journal of Neurochemistry, Volume 111, Number 4, November 2009 , pp. 1022-1030(9)

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

Authors: Erichsen, Anne Kjersti; Koht, Jeanette; Stray-Pedersen, Asbjørg; Abdelnoor, Michael; Tallaksen, Chantal M. E.

Source: Brain, Volume 132, Number 6, 30 June 2009 , pp. 1577-1588(12)

Publisher: Oxford University Press

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

Authors: Goizet, Cyril; Boukhris, Amir; Durr, Alexandra; Beetz, Christian; Truchetto, Jeremy; Tesson, Christelle; Tsaousidou, Maria; Forlani, Sylvie; Guyant-Maréchal, Lucie; Fontaine, Bertrand; Guimarães, João; Isidor, Bertrand; Chazouillères, Olivier; Wendum, Dominique; Grid, Djamel; Chevy, Françoise; Chinnery, Patrick F.; Coutinho, Paula; Azulay, Jean-Philippe; Feki, Imed; Mochel, Fanny; Wolf, Claude; Mhiri, Chokri; Crosby, Andrew; Brice, Alexis; Stevanin, Giovanni

Source: Brain, Volume 132, Number 6, 30 June 2009 , pp. 1589-1600(12)

Publisher: Oxford University Press

Conserved aromatic and basic amino acid residues in the pore region of Caenorhabditis elegans spastin play critical roles in microtubule severing

Authors: Matsushita-Ishiodori, Yuka; Yamanaka, Kunitoshi; Hashimoto, Hiroshi; Esaki, Masatoshi; Ogura, Teru

Source: Genes to Cells, Volume 14, Number 8, August 2009 , pp. 925-940(16)

Publisher: Blackwell Publishing

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

Authors: Muriel, Marie-Paule; Dauphin, Aurélien; Namekawa, Michito; Gervais, Annie; Brice, Alexis; Ruberg, Merle

Source: Journal of Neurochemistry, Volume 110, Number 5, September 2009 , pp. 1607-1616(10)

Publisher: Blackwell Publishing

Hereditary spastic paraplegia or spinocerebellar ataxia? Not always as easy as it seems

Author: Hedera, P.

Source: European Journal of Neurology, Volume 16, Number 8, August 2009 , pp. 887-888(2)

Publisher: Blackwell Publishing

Chinese patients with Machado-Joseph disease presenting with complicated hereditary spastic paraplegia

Authors: Gan, S.-R.; Zhao, K.; Wu, Z.-Y.; Wang, N.; Murong, S.-X.

Source: European Journal of Neurology, Volume 16, Number 8, August 2009 , pp. 953-956(4)

Publisher: Blackwell Publishing

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

Authors: Kasher, Paul R.; De Vos, Kurt J.; Wharton, Stephen B.; Manser, Catherine; Bennett, Ellen J.; Bingley, Megan; Wood, Jonathan D.; Milner, Roy; McDermott, Christopher J.; Miller, Christopher C. J.; Shaw, Pamela J.; Grierson, Andrew J.

Source: Journal of Neurochemistry, Volume 110, Number 1, July 2009 , pp. 34-44(11)

Publisher: Blackwell Publishing

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

Authors: Boukhris; Stevanin; Feki; Denora; Elleuch; Miladi; Goizet; Truchetto; Belal; Brice; Mhiri

Source: Clinical Genetics, Volume 75, Number 6, June 2009 , pp. 527-536(10)

Publisher: Blackwell Publishing

Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype

Authors: Smith; Bevan; Vance; Renwick; Wilkinson; Proukakis; Squitieri; Berardelli; Warner; Reid; Shaw

Source: Clinical Genetics, Volume 75, Number 5, May 2009 , pp. 485-489(5)

Publisher: Blackwell Publishing

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

Authors: Ito, Daisuke; Suzuki, Norihiro

Source: Brain, Volume 132, Number 1, 16 January 2009 , pp. 8-15(8)

Publisher: Oxford University Press

SPG11 spastic paraplegia: A new cause of juvenile parkinsonism

Authors: Anheim, Mathieu; Lagier-Tourenne, Clotilde; Stevanin, Giovanni; Fleury, Marie; Durr, Alexandra; Namer, Izzie; Denora, Paola; Brice, Alexis; Mandel, Jean; Koenig, Michel; Tranchant, Christine

Source: Journal of Neurology, Volume 256, Number 1, January 2009 , pp. 104-108(5)

Publisher: Springer

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization

Authors: Bauer, Peter; Winner, Beate; Schüle, Rebecca; Bauer, Claudia; Häfele, Veronika; Hehr, Ute; Bonin, Michael; Walter, Michael; Karle, Kathrin; Ringer, Thomas; Rieß, Olaf; Winkler, Jürgen; Schöls, Ludger

Source: Neurogenetics, Volume 10, Number 1, February 2009 , pp. 43-48(6)

Publisher: Springer

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

Authors: Orthmann-Murphy, Jennifer L.; Salsano, Ettore; Abrams, Charles K.; Bizzi, Alberto; Uziel, Graziella; Freidin, Mona M.; Lamantea, Eleonora; Zeviani, Massimo; Scherer, Steven S.; Pareyson, Davide

Source: Brain, Volume 132, Number 2, 5 February 2009 , pp. 426-438(13)

Publisher: Oxford University Press

Pleiotropic effects of spastin on neurite growth depending on expression levels

Authors: Riano, Elena; Martignoni, Monica; Mancuso, Giuseppe; Cartelli, Daniele; Crippa, Francesca; Toldo, Irene; Siciliano, Gabriele; Di Bella, Daniela; Taroni, Franco; Bassi, Maria Teresa; Cappelletti, Graziella; Rugarli, Elena I.

Source: Journal of Neurochemistry, Volume 108, Number 5, March 2009 , pp. 1277-1288(12)

Publisher: Blackwell Publishing

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

Authors: Pippucci, T.; Panza, E.; Pompilii, E.; Donadio, V.; Borreca, A.; Babalini, C.; Patrono, C.; Zuntini, R.; Kawarai, T.; Bernardi, G.; Liguori, R.; Romeo, G.; Montagna, P.; Orlacchio, A.; Seri, M.

Source: European Journal of Neurology, Volume 16, Number 1, January 2009 , pp. 121-126(6)

Publisher: Blackwell Publishing

Spastin Couples Microtubule Severing to Membrane Traffic in Completion of Cytokinesis and Secretion

Authors: Connell, James W.; Lindon, Catherine; Luzio, J. Paul; Reid, Evan

Source: Traffic, Volume 10, Number 1, January 2009 , pp. 42-56(15)

Publisher: Blackwell Publishing

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families

Authors: Loureiro, J. L.; Miller-Fleming, L.; Thieleke-Matos, C.; Magalhães, P.; Cruz, V. T.; Coutinho, P.; Sequeiros, J.; Silveira, I.

Source: Acta Neurologica Scandinavica, Volume 119, Number 2, February 2009 , pp. 113-118(6)

Publisher: Blackwell Publishing

Normal Dopaminergic Nigrostriatal Innervation in SPG3A Hereditary Spastic Paraplegia

Authors: Albin, Roger; Koeppe, Robert; Rainier, Shirley; Fink, John

Source: Journal of Neurogenetics, Volume 22, Number 4, November 2008 , pp. 289-294(6)

Publisher: Informa Healthcare

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)

Authors: Paisan-Ruiz, C.; Nath, P.; Wood, N. W.; Singleton, A.; Houlden, H.

Source: European Journal of Neurology, Volume 15, Number 10, October 2008 , pp. 1065-1070(6)

Publisher: Blackwell Publishing