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Items: 1 to 20 of 119

1.

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Fink JK.

Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. Review.

2.

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I; Japan Spastic Paraplegia Research Consortium (JASPAC).

J Med Genet. 2012 Dec;49(12):777-84. doi: 10.1136/jmedgenet-2012-101212.

PMID:
23188110
3.

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D.

Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21.

4.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J; FORGE Canada Consortium, Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP.

Am J Hum Genet. 2012 Dec 7;91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21.

5.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G.

Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21.

6.

Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.

Al-Saif A, Bohlega S, Al-Mohanna F.

Ann Neurol. 2012 Oct;72(4):510-6. doi: 10.1002/ana.23641.

PMID:
23109145
7.

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.

Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC.

J Med Genet. 2012 Jul;49(7):462-72. doi: 10.1136/jmedgenet-2012-100742. Epub 2012 Jun 20.

PMID:
22717650
8.

TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.

Martinez-Lage M, Molina-Porcel L, Falcone D, McCluskey L, Lee VM, Van Deerlin VM, Trojanowski JQ.

Acta Neuropathol. 2012 Aug;124(2):285-91.

9.

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.

Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schüle R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Schöls L, Orlacchio A, Reid E, Züchner S.

J Clin Invest. 2012 Feb;122(2):538-44. doi: 10.1172/JCI60560. Epub 2012 Jan 9.

10.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH.

Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.

PMID:
21937992
11.

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).

Alazami AM, Adly N, Al Dhalaan H, Alkuraya FS.

Neurogenetics. 2011 Nov;12(4):333-6. doi: 10.1007/s10048-011-0291-8. Epub 2011 Jul 28.

12.

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L.

Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27.

13.

NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.

Svenstrup K, Møller RS, Christensen J, Budtz-Jørgensen E, Gilling M, Nielsen JE.

Eur J Neurol. 2011 Sep;18(9):1197-9. doi: 10.1111/j.1468-1331.2011.03359.x. Epub 2011 Feb 22.

PMID:
21599812
14.

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E.

J Neurol Sci. 2011 Jun 15;305(1-2):67-70. doi: 10.1016/j.jns.2011.03.011. Epub 2011 Mar 25.

PMID:
21440262
15.

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
16.

Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes.

Bian X, Klemm RW, Liu TY, Zhang M, Sun S, Sui X, Liu X, Rapoport TA, Hu J.

Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):3976-81. doi: 10.1073/pnas.1101643108. Epub 2011 Feb 22.

17.

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt KR, Fernhoff PM, Ledbetter DH, Martin CL.

J Med Genet. 2011 Feb;48(2):141-4. doi: 10.1136/jmg.2010.082263. Epub 2010 Oct 23.

18.

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ.

Ann Neurol. 2010 Nov;68(5):611-8. doi: 10.1002/ana.22122.

PMID:
20853438
19.

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

Verny C, Guegen N, Desquiret V, Chevrollier A, Prundean A, Dubas F, Cassereau J, Ferre M, Amati-Bonneau P, Bonneau D, Reynier P, Procaccio V.

Mitochondrion. 2011 Jan;11(1):70-5. doi: 10.1016/j.mito.2010.07.006. Epub 2010 Jul 22.

PMID:
20656066
20.

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.

Słabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, Camdessanche JP, Brice A, Shevchenko A, Pisabarro MT, Stevanin G, Buchholz F.

PLoS Biol. 2010 Jun 29;8(6):e1000408. doi: 10.1371/journal.pbio.1000408.

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