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Items: 1 to 20 of 288

1.

PKD or not PKD - that is the question.

Balint B, Erro R, Salpietro V, Houlden H, Bhatia KP.

Ann Neurol. 2016 Apr 21. doi: 10.1002/ana.24668. [Epub ahead of print] No abstract available.

PMID:
27098556
2.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.

Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP.

Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015.

3.

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

Bettencourt C, Hensman Moss DJ, Flower M, Wiethoff S, Brice A, Goizet C, Stevanin G, Koutsis G, Karadima G, Panas M, Yescas-Gómez P, García-Velázquez LE, Alonso-Vilatela ME, Lima M, Raposo M, Traynor B, Sweeney M, Wood N, Giunti P; SPATAX network, Durr A, Holmans P, Houlden H, Tabrizi SJ, Jones L.

Ann Neurol. 2016 Apr 4. doi: 10.1002/ana.24656. [Epub ahead of print]

PMID:
27044000
4.

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.

Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, Sweeney MG, Holton JL, Hanna M, Dallman JE, Auer-Grumbach M, Reilly MM, Zuchner S.

Am J Hum Genet. 2016 Apr 7;98(4):597-614. doi: 10.1016/j.ajhg.2016.02.022. Epub 2016 Mar 31.

PMID:
27040688
5.

Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia.

Chelban V, Lynch DS, Houlden H, Wood N.

J Neurol. 2016 Mar 30. [Epub ahead of print] No abstract available.

PMID:
27025852
6.

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

Wiethoff S, Bettencourt C, Paudel R, Madon P, Liu YT, Hersheson J, Wadia N, Desai J, Houlden H.

Cerebellum. 2016 Mar 19. [Epub ahead of print]

PMID:
26995604
7.

Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.

Schottlaender LV, Bettencourt C, Kiely AP, Chalasani A, Neergheen V, Holton JL, Hargreaves I, Houlden H.

PLoS One. 2016 Feb 19;11(2):e0149557. doi: 10.1371/journal.pone.0149557. eCollection 2016.

8.

Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features.

Heidari M, Johnstone DM, Bassett B, Graham RM, Chua AC, House MJ, Collingwood JF, Bettencourt C, Houlden H, Ryten M, Olynyk JK, Trinder D, Milward EA.

Mol Psychiatry. 2016 Jan 5. doi: 10.1038/mp.2015.192. [Epub ahead of print]

PMID:
26728570
9.

Gene co-expression networks shed light into diseases of brain iron accumulation.

Bettencourt C, Forabosco P, Wiethoff S, Heidari M, Johnstone DM, Botía JA, Collingwood JF, Hardy J; UK Brain Expression Consortium (UKBEC), Milward EA, Ryten M, Houlden H.

Neurobiol Dis. 2016 Mar;87:59-68. doi: 10.1016/j.nbd.2015.12.004. Epub 2015 Dec 18.

10.

DYT6 Dystonia: A Neuropathological Study.

Paudel R, Li A, Hardy J, Bhatia KP, Houlden H, Holton J.

Neurodegener Dis. 2016;16(3-4):273-8. doi: 10.1159/000440863. Epub 2015 Nov 27.

11.

The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E, Xiromerisiou G, Stamelou M, Walker M, Kullmann D, Warner T, Jarman P, Hanna M, Kurian MA, Bhatia KP, Houlden H.

Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23. Review.

12.

Genome-wide estimate of the heritability of Multiple System Atrophy.

Federoff M, Price TR, Sailer A, Scholz S, Hernandez D, Nicolas A, Singleton AB, Nalls M, Houlden H.

Parkinsonism Relat Disord. 2016 Jan;22:35-41. doi: 10.1016/j.parkreldis.2015.11.005. Epub 2015 Nov 5.

PMID:
26589003
13.

Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.

Ramos A, Raposo M, Milà M, Bettencourt C, Houlden H, Cisneros B, Magaña JJ, Bettencourt BF, Bruges-Armas J, Santos C, Lima M.

J Mol Neurosci. 2016 Jan;58(1):83-7. doi: 10.1007/s12031-015-0646-y. Epub 2015 Oct 10.

PMID:
26454745
14.

Syndromic associations and RNF216 mutations.

Ganos C, Hersheson J, Adams M, Bhatia KP, Houlden H.

Parkinsonism Relat Disord. 2015 Nov;21(11):1389-90. doi: 10.1016/j.parkreldis.2015.09.010. Epub 2015 Sep 4. No abstract available.

PMID:
26421393
15.

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium.

Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5.

16.

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

Lynch DS, Koutsis G, Tucci A, Panas M, Baklou M, Breza M, Karadima G, Houlden H.

Eur J Hum Genet. 2015 Sep 16. doi: 10.1038/ejhg.2015.200. [Epub ahead of print]

PMID:
26374131
17.

A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.

Gami P, Murray C, Schottlaender L, Bettencourt C, De Pablo Fernandez E, Mudanohwo E, Mizielinska S, Polke JM, Holton JL, Isaacs AM, Houlden H, Revesz T, Lashley T.

Acta Neuropathol. 2015 Oct;130(4):599-601. doi: 10.1007/s00401-015-1473-5. Epub 2015 Sep 7. No abstract available.

PMID:
26347457
18.

Genetic advances in sporadic inclusion body myositis.

Gang Q, Bettencourt C, Houlden H, Hanna MG, Machado PM.

Curr Opin Rheumatol. 2015 Nov;27(6):586-94. doi: 10.1097/BOR.0000000000000213.

PMID:
26335925
19.

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.

Kiely AP, Ling H, Asi YT, Kara E, Proukakis C, Schapira AH, Morris HR, Roberts HC, Lubbe S, Limousin P, Lewis PA, Lees AJ, Quinn N, Hardy J, Love S, Revesz T, Houlden H, Holton JL.

Mol Neurodegener. 2015 Aug 27;10:41. doi: 10.1186/s13024-015-0038-3.

20.

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM.

Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21.

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