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Items: 1 to 20 of 100

1.

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG.

Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12.

2.

Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.

Schubert SF, Hoffjan S, Dekomien G.

Mol Cell Probes. 2016 Feb;30(1):53-5. doi: 10.1016/j.mcp.2015.12.001. Epub 2015 Dec 20.

PMID:
26714052
3.

C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.

Gagliardi M, Annesi G, Lesca G, Broussolle E, Iannello G, Vaiti V, Gambardella A, Quattrone A.

Parkinsonism Relat Disord. 2015 Jul;21(7):813-6. doi: 10.1016/j.parkreldis.2015.04.009. Epub 2015 Apr 23.

PMID:
25962551
4.

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.

Dard R, Meyniel C, Touitou V, Stevanin G, Lamari F, Durr A, Ewenczyk C, Mochel F.

Eur J Med Genet. 2017 Dec;60(12):639-642. doi: 10.1016/j.ejmg.2017.08.015. Epub 2017 Aug 14.

PMID:
28818478
5.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H.

Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007.

6.

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

Tschentscher A, Dekomien G, Ross S, Cremer K, Kukuk GM, Epplen JT, Hoffjan S.

J Neurol Sci. 2015 Feb 15;349(1-2):105-9. doi: 10.1016/j.jns.2014.12.036. Epub 2015 Jan 3.

PMID:
25592411
7.

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.

Bektaş G, Yeşil G, Yıldız EP, Aydınlı N, Çalışkan M, Özmen M.

Turk J Pediatr. 2017;59(3):329-334. doi: 10.24953/turkjped.2017.03.016.

8.

The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.

Olgiati S, Doğu O, Tufekcioglu Z, Diler Y, Saka E, Gultekin M, Kaleagasi H, Kuipers D, Graafland J, Breedveld GJ, Quadri M, Sürmeli R, Sünter G, Doğan T, Yalçın AD, Bilgiç B, Elibol B, Emre M, Hanagasi HA, Bonifati V.

Parkinsonism Relat Disord. 2017 Jun;39:64-70. doi: 10.1016/j.parkreldis.2017.03.012. Epub 2017 Mar 21.

PMID:
28347615
9.

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.

Dogu O, Krebs CE, Kaleagasi H, Demirtas Z, Oksuz N, Walker RH, Paisán-Ruiz C.

Clin Genet. 2013 Oct;84(4):350-5. doi: 10.1111/cge.12079. Epub 2013 Jan 21.

PMID:
23278385
10.

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

Dezfouli MA, Alavi A, Rohani M, Rezvani M, Nekuie T, Klotzle B, Tonekaboni SH, Shahidi GA, Elahi E.

Mov Disord. 2013 Feb;28(2):228-32. doi: 10.1002/mds.25271. Epub 2012 Nov 19.

PMID:
23166001
11.

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C.

PLoS Genet. 2011 Oct;7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13.

12.

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.

Halevy A, Lerer I, Cohen R, Kornreich L, Shuper A, Gamliel M, Zimerman BE, Korabi I, Meiner V, Straussberg R, Lossos A.

J Neurol. 2014 Nov;261(11):2165-9. doi: 10.1007/s00415-014-7457-x. Epub 2014 Aug 23.

PMID:
25149867
13.

A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.

Yang Y, Liu W, Fang Z, Shi J, Che F, He C, Yao L, Wang E, Wu Y.

Hum Mutat. 2016 Feb;37(2):165-9. doi: 10.1002/humu.22930. Epub 2015 Dec 10.

PMID:
26553276
14.

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Züchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA.

Am J Hum Genet. 2006 Aug;79(2):365-9. Epub 2006 May 26.

15.

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P.

Neurology. 2007 Jul 24;69(4):368-75.

PMID:
17646629
16.

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

Deschauer M, Gaul C, Behrmann C, Prokisch H, Zierz S, Haack TB.

J Neurol. 2012 Nov;259(11):2434-9. doi: 10.1007/s00415-012-6521-7. Epub 2012 May 15.

PMID:
22584950
17.

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.

Elsaid MF, Ibrahim K, Chalhoub N, Elsotouhy A, El Mudehki N, Abdel Aleem A.

BMC Med Genet. 2017 Mar 21;18(1):33. doi: 10.1186/s12881-017-0395-6.

18.

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

Meilleur KG, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH.

Neurogenetics. 2010 Jul;11(3):313-8. doi: 10.1007/s10048-009-0230-0. Epub 2009 Dec 29.

19.

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.

Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C.

PLoS One. 2014 Jan 22;9(1):e86340. doi: 10.1371/journal.pone.0086340. eCollection 2014.

20.

Behr syndrome with homozygous C19ORF12 mutation.

Kleffner I, Wessling C, Gess B, Korsukewitz C, Allkemper T, Schirmacher A, Young P, Senderek J, Husstedt IW.

J Neurol Sci. 2015 Oct 15;357(1-2):115-8. doi: 10.1016/j.jns.2015.07.009. Epub 2015 Jul 9.

PMID:
26187298

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