Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 16

1.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group , Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H.

Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248.

2.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group.

Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1.

3.

Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.

Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A; International Parkinson’s Disease Genomics Consortium (IPDGC), Ryten M, Koks S.

NPJ Parkinsons Dis. 2019 May 22;5:8. doi: 10.1038/s41531-019-0080-x. eCollection 2019.

4.

Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy.

Guelfi S, Botia JA, Thom M, Ramasamy A, Perona M, Stanyer L, Martinian L, Trabzuni D, Smith C, Walker R, Ryten M, Reimers M, Weale ME, Hardy J, Matarin M.

Brain. 2019 Jun 1;142(6):1616-1630. doi: 10.1093/brain/awz074.

PMID:
30932156
5.

Correction to: Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis.

Hughes CD, Choi ML, Ryten M, Hopkins L, Drews A, Botía JA, Iljina M, Rodrigues M, Gagliano SA, Gandhi S, Bryant C, Klenerman D.

Acta Neuropathol. 2019 Jan;137(1):121. doi: 10.1007/s00401-018-1919-7.

PMID:
30328509
6.

Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis.

Hughes CD, Choi ML, Ryten M, Hopkins L, Drews A, Botía JA, Iljina M, Rodrigues M, Gagliano SA, Gandhi S, Bryant C, Klenerman D.

Acta Neuropathol. 2019 Jan;137(1):103-120. doi: 10.1007/s00401-018-1907-y. Epub 2018 Sep 17. Erratum in: Acta Neuropathol. 2018 Oct 17;:.

7.

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

Whelan CD, Altmann A, Botía JA, Jahanshad N, Hibar DP, Absil J, Alhusaini S, Alvim MKM, Auvinen P, Bartolini E, Bergo FPG, Bernardes T, Blackmon K, Braga B, Caligiuri ME, Calvo A, Carr SJ, Chen J, Chen S, Cherubini A, David P, Domin M, Foley S, França W, Haaker G, Isaev D, Keller SS, Kotikalapudi R, Kowalczyk MA, Kuzniecky R, Langner S, Lenge M, Leyden KM, Liu M, Loi RQ, Martin P, Mascalchi M, Morita ME, Pariente JC, Rodríguez-Cruces R, Rummel C, Saavalainen T, Semmelroch MK, Severino M, Thomas RH, Tondelli M, Tortora D, Vaudano AE, Vivash L, von Podewils F, Wagner J, Weber B, Yao Y, Yasuda CL, Zhang G, Bargalló N, Bender B, Bernasconi N, Bernasconi A, Bernhardt BC, Blümcke I, Carlson C, Cavalleri GL, Cendes F, Concha L, Delanty N, Depondt C, Devinsky O, Doherty CP, Focke NK, Gambardella A, Guerrini R, Hamandi K, Jackson GD, Kälviäinen R, Kochunov P, Kwan P, Labate A, McDonald CR, Meletti S, O'Brien TJ, Ourselin S, Richardson MP, Striano P, Thesen T, Wiest R, Zhang J, Vezzani A, Ryten M, Thompson PM, Sisodiya SM.

Brain. 2018 Feb 1;141(2):391-408. doi: 10.1093/brain/awx341.

8.

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

Salpietro V, Efthymiou S, Manole A, Maurya B, Wiethoff S, Ashokkumar B, Cutrupi MC, Dipasquale V, Manti S, Botia JA, Ryten M, Vandrovcova J, Bello OD, Bettencourt C, Mankad K, Mukherjee A, Mutsuddi M, Houlden H.

Hum Mutat. 2018 Feb;39(2):187-192. doi: 10.1002/humu.23368. Epub 2017 Nov 27.

9.

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

Salpietro V, Zollo M, Vandrovcova J, Ryten M, Botia JA, Ferrucci V, Manole A, Efthymiou S, Al Mutairi F, Bertini E, Tartaglia M; SYNAPS Study Group, Houlden H.

Brain. 2017 Aug 1;140(8):e49. doi: 10.1093/brain/awx155. No abstract available.

10.

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H.

Am J Hum Genet. 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009.

11.

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.

Botía JA, Vandrovcova J, Forabosco P, Guelfi S, D'Sa K; United Kingdom Brain Expression Consortium, Hardy J, Lewis CM, Ryten M, Weale ME.

BMC Syst Biol. 2017 Apr 12;11(1):47. doi: 10.1186/s12918-017-0420-6.

12.

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM; International Parkinson’s Disease Genetics Consortium (IPGDC), Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P.

Genome Biol. 2017 Jan 30;18(1):22. doi: 10.1186/s13059-017-1147-9.

13.

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis.

Ferrari R, Forabosco P, Vandrovcova J, Botía JA, Guelfi S, Warren JD; UK Brain Expression Consortium (UKBEC), Momeni P, Weale ME, Ryten M, Hardy J.

Mol Neurodegener. 2016 Feb 24;11:21. doi: 10.1186/s13024-016-0085-4.

14.

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.

15.

An approach for representing sensor data to validate alerts in Ambient Assisted Living.

Muñoz A, Serrano E, Villa A, Valdés M, Botía JA.

Sensors (Basel). 2012;12(5):6282-306. doi: 10.3390/s120506282. Epub 2012 May 11.

16.

Providing QoS through machine-learning-driven adaptive multimedia applications.

Ruiz PM, Botía JA, Gómez-Skarmeta A.

IEEE Trans Syst Man Cybern B Cybern. 2004 Jun;34(3):1398-411.

PMID:
15484912

Supplemental Content

Loading ...
Support Center