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Items: 1 to 50 of 375

1.

Olfactory bulb atrophy and caspase activation observed in the BACHD rat models of Huntington disease.

Lessard-Beaudoin M, Yu-Taeger L, Laroche M, Singer E, Riess O, Nguyen HHP, Graham RK.

Neurobiol Dis. 2019 Feb 6. pii: S0969-9961(18)30231-6. doi: 10.1016/j.nbd.2019.02.002. [Epub ahead of print]

PMID:
30738141
2.

Two cases of variant late infantile ceroid lipofuscinosis in Jordan.

Nafi O, Ramadan B, Riess O, Buchert R, Froukh T.

World J Clin Cases. 2019 Jan 26;7(2):203-208. doi: 10.12998/wjcc.v7.i2.203.

3.

Distinct Stress Response and Altered Striatal Transcriptome in Alpha-Synuclein Overexpressing Mice.

Wassouf Z, Hentrich T, Casadei N, Jaumann M, Knipper M, Riess O, Schulze-Hentrich JM.

Front Neurosci. 2019 Jan 10;12:1033. doi: 10.3389/fnins.2018.01033. eCollection 2018.

4.

Treadmill exercise intervention improves gait and postural control in alpha-synuclein mouse models without inducing cerebral autophagy.

Minakaki G, Canneva F, Chevessier F, Bode F, Menges S, Timotius IK, Kalinichenko LS, Meixner H, Müller CP, Eskofier BM, Casadei N, Riess O, Schröder R, Winkler J, Xiang W, von Hörsten S, Klucken J.

Behav Brain Res. 2019 May 2;363:199-215. doi: 10.1016/j.bbr.2018.11.035. Epub 2018 Dec 30.

PMID:
30599154
5.

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?

Beck-Wödl S, Harzer K, Sturm M, Buchert R, Rieß O, Mennel HD, Latta E, Pagenstecher A, Keber U.

Acta Neuropathol Commun. 2018 Dec 27;6(1):145. doi: 10.1186/s40478-018-0646-6.

6.

Vulnerability of frontal brain neurons for the toxicity of expanded ataxin-3.

Schmidt J, Mayer AK, Bakula D, Freude J, Weber JJ, Weiss A, Riess O, Schmidt T.

Hum Mol Genet. 2018 Dec 20. doi: 10.1093/hmg/ddy437. [Epub ahead of print]

PMID:
30576445
7.

SNCA overexpression disturbs hippocampal gene expression trajectories in midlife.

Hentrich T, Wassouf Z, Riess O, Schulze-Hentrich JM.

Aging (Albany NY). 2018 Dec 13;10(12):4024-4041. doi: 10.18632/aging.101691.

8.

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M.

Parkinsonism Relat Disord. 2018 Nov 29. pii: S1353-8020(18)30524-8. doi: 10.1016/j.parkreldis.2018.11.027. [Epub ahead of print]

PMID:
30522958
9.

Understanding the role of genetic variability in LRRK2 in Indian population.

Kishore A, Ashok Kumar Sreelatha A, Sturm M, von-Zweydorf F, Pihlstrøm L, Raimondi F, Russell R, Lichtner P, Banerjee M, Krishnan S, Rajan R, Puthenveedu DK, Chung SJ; International Parkinson's Disease Genomics Consortium (IPDGC); Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD), Bauer P, Riess O, Gloeckner CJ, Kruger R, Gasser T, Sharma M.

Mov Disord. 2018 Nov 28. doi: 10.1002/mds.27558. [Epub ahead of print]

PMID:
30485545
10.

Physiological and pathophysiological characteristics of ataxin-3 isoforms.

Weishäupl D, Schneider J, Peixoto Pinheiro B, Ruess C, Dold SM, von Zweydorf F, Gloeckner CJ, Schmidt J, Riess O, Schmidt T.

J Biol Chem. 2019 Jan 11;294(2):644-661. doi: 10.1074/jbc.RA118.005801. Epub 2018 Nov 19.

PMID:
30455355
11.

The BACHD rat model of Huntington disease shows slowed learning in a Go/No-Go-like test of visual discrimination.

Clemensson EKH, Novati A, Clemensson LE, Riess O, Nguyen HP.

Behav Brain Res. 2019 Feb 1;359:116-126. doi: 10.1016/j.bbr.2018.10.036. Epub 2018 Oct 29.

PMID:
30385368
12.

Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3.

Harmuth T, Prell-Schicker C, Weber JJ, Gellerich F, Funke C, Drießen S, Magg JCD, Krebiehl G, Wolburg H, Hayer SN, Hauser S, Krüger R, Schöls L, Riess O, Hübener-Schmid J.

Front Mol Neurosci. 2018 Oct 10;11:368. doi: 10.3389/fnmol.2018.00368. eCollection 2018.

13.

Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition.

Siebzehnrübl FA, Raber KA, Urbach YK, Schulze-Krebs A, Canneva F, Moceri S, Habermeyer J, Achoui D, Gupta B, Steindler DA, Stephan M, Nguyen HP, Bonin M, Riess O, Bauer A, Aigner L, Couillard-Despres S, Paucar MA, Svenningsson P, Osmand A, Andreew A, Zabel C, Weiss A, Kuhn R, Moussaoui S, Blockx I, Van der Linden A, Cheong RY, Roybon L, Petersén Å, von Hörsten S.

Proc Natl Acad Sci U S A. 2018 Sep 11;115(37):E8765-E8774. doi: 10.1073/pnas.1807962115. Epub 2018 Aug 27.

14.

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.

Helal M, Mazaheri N, Shalbafan B, Malamiri RA, Dilaver N, Buchert R, Mohammadiasl J, Golchin N, Sedaghat A, Mehrjardi MYV, Haack TB, Riess O, Chung WK, Galehdari H, Shariati G, Maroofian R.

Neurol Sci. 2018 Nov;39(11):1917-1925. doi: 10.1007/s10072-018-3526-8. Epub 2018 Aug 21.

PMID:
30128655
15.

First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications.

Löffler MW, Steinhilber J, Hilke FJ, Haen SP, Bösmüller H, Montes-Mojarro IA, Bonzheim I, Stäbler A, Faust U, Grasshoff U, Königsrainer I, Rammensee HG, Kanz L, Königsrainer A, Beckert S, Riess O, Schroeder C.

BMC Med Genet. 2018 Aug 15;19(1):144. doi: 10.1186/s12881-018-0651-4.

16.

Circulating cell-free DNA: A potential biomarker to differentiate inflammation and infection during radiochemotherapy.

Zwirner K, Hilke FJ, Demidov G, Ossowski S, Gani C, Rieß O, Zips D, Welz S, Schroeder C.

Radiother Oncol. 2018 Dec;129(3):575-581. doi: 10.1016/j.radonc.2018.07.016. Epub 2018 Aug 7.

PMID:
30097252
17.

Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization.

Lu Y, Ren X, Wang Y, Bardai G, Sturm M, Dai Y, Riess O, Zhang Y, Li H, Li T, Zhai N, Zhang J, Rauch F, Han J.

Bone. 2018 Sep;114:144-149. doi: 10.1016/j.bone.2018.06.018. Epub 2018 Jun 20.

PMID:
29935254
18.

Dynamic footprints of α-synucleinopathic mice recorded by CatWalk gait analysis.

Timotius IK, Canneva F, Minakaki G, Pasluosta C, Moceri S, Casadei N, Riess O, Winkler J, Klucken J, von Hörsten S, Eskofier B.

Data Brief. 2018 Jan 3;17:189-193. doi: 10.1016/j.dib.2017.12.067. eCollection 2018 Apr.

19.

The Alteration of Emotion Regulation Precedes the Deficits in Interval Timing in the BACHD Rat Model for Huntington Disease.

Garces D, El Massioui N, Lamirault C, Riess O, Nguyen HP, Brown BL, Doyère V.

Front Integr Neurosci. 2018 May 9;12:14. doi: 10.3389/fnint.2018.00014. eCollection 2018.

20.

Environmental Enrichment Prevents Transcriptional Disturbances Induced by Alpha-Synuclein Overexpression.

Wassouf Z, Hentrich T, Samer S, Rotermund C, Kahle PJ, Ehrlich I, Riess O, Casadei N, Schulze-Hentrich JM.

Front Cell Neurosci. 2018 Apr 24;12:112. doi: 10.3389/fncel.2018.00112. eCollection 2018.

21.

Dynamic nuclear envelope phenotype in rats overexpressing mutated human torsinA protein.

Yu-Taeger L, Gaiser V, Lotzer L, Roenisch T, Fabry BT, Stricker-Shaver J, Casadei N, Walter M, Schaller M, Riess O, Nguyen HP, Ott T, Grundmann-Hauser K.

Biol Open. 2018 Jul 23;7(7). pii: bio032839. doi: 10.1242/bio.032839.

22.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM.

Mol Psychiatry. 2018 May 4. doi: 10.1038/s41380-018-0065-x. [Epub ahead of print]

PMID:
29728705
23.

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.

Engel C, Rhiem K, Hahnen E, Loibl S, Weber KE, Seiler S, Zachariae S, Hauke J, Wappenschmidt B, Waha A, Blümcke B, Kiechle M, Meindl A, Niederacher D, Bartram CR, Speiser D, Schlegelberger B, Arnold N, Wieacker P, Leinert E, Gehrig A, Briest S, Kast K, Riess O, Emons G, Weber BHF, Engel J, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).

BMC Cancer. 2018 Mar 7;18(1):265. doi: 10.1186/s12885-018-4029-y.

24.

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium.

Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27.

25.

Karyopherin α-3 is a key protein in the pathogenesis of spinocerebellar ataxia type 3 controlling the nuclear localization of ataxin-3.

Sowa AS, Martin E, Martins IM, Schmidt J, Depping R, Weber JJ, Rother F, Hartmann E, Bader M, Riess O, Tricoire H, Schmidt T.

Proc Natl Acad Sci U S A. 2018 Mar 13;115(11):E2624-E2633. doi: 10.1073/pnas.1716071115. Epub 2018 Feb 23.

26.

Early Alterations in Operant Performance and Prominent Huntingtin Aggregation in a Congenic F344 Rat Line of the Classical CAGn51trunc Model of Huntington Disease.

Plank AC, Canneva F, Raber KA, Urbach YK, Dobner J, Puchades M, Bjaalie JG, Gillmann C, Bäuerle T, Riess O, Nguyen HHP, von Hörsten S.

Front Neurosci. 2018 Jan 25;12:11. doi: 10.3389/fnins.2018.00011. eCollection 2018.

27.

Calpastatin ablation aggravates the molecular phenotype in cell and animal models of Huntington disease.

Weber JJ, Kloock SJ, Nagel M, Ortiz-Rios MM, Hofmann J, Riess O, Nguyen HP.

Neuropharmacology. 2018 May 1;133:94-106. doi: 10.1016/j.neuropharm.2018.01.022.

PMID:
29355642
28.

Divalproex sodium modulates nuclear localization of ataxin-3 and prevents cellular toxicity caused by expanded ataxin-3.

Wang ZJ, Hanet A, Weishäupl D, Martins IM, Sowa AS, Riess O, Schmidt T.

CNS Neurosci Ther. 2018 May;24(5):404-411. doi: 10.1111/cns.12795. Epub 2018 Jan 9.

PMID:
29318784
29.

Dynamic footprint based locomotion sway assessment in α-synucleinopathic mice using Fast Fourier Transform and Low Pass Filter.

Timotius IK, Canneva F, Minakaki G, Pasluosta C, Moceri S, Casadei N, Riess O, Winkler J, Klucken J, von Hörsten S, Eskofier B.

J Neurosci Methods. 2018 Feb 15;296:1-11. doi: 10.1016/j.jneumeth.2017.12.004. Epub 2017 Dec 16.

PMID:
29253577
30.

Reduced cell size, chromosomal aberration and altered proliferation rates are characteristics and confounding factors in the STHdh cell model of Huntington disease.

Singer E, Walter C, Weber JJ, Krahl AC, Mau-Holzmann UA, Rischert N, Riess O, Clemensson LE, Nguyen HP.

Sci Rep. 2017 Dec 4;7(1):16880. doi: 10.1038/s41598-017-17275-4.

31.

Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease.

Fitzgerald JC, Zimprich A, Carvajal Berrio DA, Schindler KM, Maurer B, Schulte C, Bus C, Hauser AK, Kübler M, Lewin R, Bobbili DR, Schwarz LM, Vartholomaiou E, Brockmann K, Wüst R, Madlung J, Nordheim A, Riess O, Martins LM, Glaab E, May P, Schenke-Layland K, Picard D, Sharma M, Gasser T, Krüger R.

Brain. 2017 Sep 1;140(9):2444-2459. doi: 10.1093/brain/awx202.

PMID:
29050400
32.

Analysis of blood-based gene expression in idiopathic Parkinson disease.

Shamir R, Klein C, Amar D, Vollstedt EJ, Bonin M, Usenovic M, Wong YC, Maver A, Poths S, Safer H, Corvol JC, Lesage S, Lavi O, Deuschl G, Kuhlenbaeumer G, Pawlack H, Ulitsky I, Kasten M, Riess O, Brice A, Peterlin B, Krainc D.

Neurology. 2017 Oct 17;89(16):1676-1683. doi: 10.1212/WNL.0000000000004516. Epub 2017 Sep 15.

33.

Sequence variants in ESR1 and OXTR are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

Brucker SY, Frank L, Eisenbeis S, Henes M, Wallwiener D, Riess O, van Eijck B, Schöller D, Bonin M, Rall KK.

Acta Obstet Gynecol Scand. 2017 Nov;96(11):1338-1346. doi: 10.1111/aogs.13202. Epub 2017 Sep 21.

PMID:
28815558
34.

Altered reactivity of central amygdala to GABAAR antagonist in the BACHD rat model of Huntington disease.

Lamirault C, Yu-Taeger L, Doyère V, Riess O, Nguyen HP, El Massioui N.

Neuropharmacology. 2017 Sep 1;123:136-147. doi: 10.1016/j.neuropharm.2017.05.032. Epub 2017 Jun 3.

PMID:
28587900
35.

Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopathies.

Vicente Miranda H, Szego ÉM, Oliveira LMA, Breda C, Darendelioglu E, de Oliveira RM, Ferreira DG, Gomes MA, Rott R, Oliveira M, Munari F, Enguita FJ, Simões T, Rodrigues EF, Heinrich M, Martins IC, Zamolo I, Riess O, Cordeiro C, Ponces-Freire A, Lashuel HA, Santos NC, Lopes LV, Xiang W, Jovin TM, Penque D, Engelender S, Zweckstetter M, Klucken J, Giorgini F, Quintas A, Outeiro TF.

Brain. 2017 May 1;140(5):1399-1419. doi: 10.1093/brain/awx056.

PMID:
28398476
36.

A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3.

Weber JJ, Golla M, Guaitoli G, Wanichawan P, Hayer SN, Hauser S, Krahl AC, Nagel M, Samer S, Aronica E, Carlson CR, Schöls L, Riess O, Gloeckner CJ, Nguyen HP, Hübener-Schmid J.

Brain. 2017 May 1;140(5):1280-1299. doi: 10.1093/brain/awx039.

PMID:
28334907
37.

Further investigation of phenotypes and confounding factors of progressive ratio performance and feeding behavior in the BACHD rat model of Huntington disease.

Clemensson EK, Clemensson LE, Fabry B, Riess O, Nguyen HP.

PLoS One. 2017 Mar 8;12(3):e0173232. doi: 10.1371/journal.pone.0173232. eCollection 2017.

38.

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.

Ripperger T, Bielack SS, Borkhardt A, Brecht IB, Burkhardt B, Calaminus G, Debatin KM, Deubzer H, Dirksen U, Eckert C, Eggert A, Erlacher M, Fleischhack G, Frühwald MC, Gnekow A, Goehring G, Graf N, Hanenberg H, Hauer J, Hero B, Hettmer S, von Hoff K, Horstmann M, Hoyer J, Illig T, Kaatsch P, Kappler R, Kerl K, Klingebiel T, Kontny U, Kordes U, Körholz D, Koscielniak E, Kramm CM, Kuhlen M, Kulozik AE, Lamottke B, Leuschner I, Lohmann DR, Meinhardt A, Metzler M, Meyer LH, Moser O, Nathrath M, Niemeyer CM, Nustede R, Pajtler KW, Paret C, Rasche M, Reinhardt D, Rieß O, Russo A, Rutkowski S, Schlegelberger B, Schneider D, Schneppenheim R, Schrappe M, Schroeder C, von Schweinitz D, Simon T, Sparber-Sauer M, Spix C, Stanulla M, Steinemann D, Strahm B, Temming P, Thomay K, von Bueren AO, Vorwerk P, Witt O, Wlodarski M, Wössmann W, Zenker M, Zimmermann S, Pfister SM, Kratz CP.

Am J Med Genet A. 2017 Apr;173(4):1017-1037. doi: 10.1002/ajmg.a.38142. Epub 2017 Feb 7. Review.

PMID:
28168833
39.

Dysregulation of gene expression in the striatum of BACHD rats expressing full-length mutant huntingtin and associated abnormalities on molecular and protein levels.

Yu-Taeger L, Bonin M, Stricker-Shaver J, Riess O, Nguyen HHP.

Neuropharmacology. 2017 May 1;117:260-272. doi: 10.1016/j.neuropharm.2017.01.029. Epub 2017 Jan 30.

PMID:
28153533
40.

The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory.

Clemensson EK, Clemensson LE, Riess O, Nguyen HP.

PLoS One. 2017 Jan 3;12(1):e0169051. doi: 10.1371/journal.pone.0169051. eCollection 2017.

41.

Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2.

Casadei N, Sood P, Ulrich T, Fallier-Becker P, Kieper N, Helling S, May C, Glaab E, Chen J, Nuber S, Wolburg H, Marcus K, Rapaport D, Ott T, Riess O, Krüger R, Fitzgerald JC.

Hum Mol Genet. 2016 Dec 15;25(24):5513. doi: 10.1093/hmg/ddw353. No abstract available.

PMID:
28031291
42.

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.

Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS.

Am J Hum Genet. 2016 Dec 1;99(6):1359-1367. doi: 10.1016/j.ajhg.2016.10.006. Epub 2016 Nov 17.

43.

Erratum to "Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient".

Löffler MW, Chandran PA, Laske K, Schroeder C, Bonzheim I, Walzer M, Hilke FJ, Trautwein N, Kowalewski DJ, Schuster H, Günder M, Carcamo Yañez VA, Mohr C, Sturm M, Nguyen HP, Riess O, Bauer P, Nahnsen S, Nadalin S, Zieker D, Glatzle J, Thiel K, Schneiderhan-Marra N, Clasen S, Bösmüller H, Fend F, Kohlbacher O, Gouttefangeas C, Stevanović S, Königsrainer A, Rammensee HG.

J Hepatol. 2017 Jan;66(1):252-253. doi: 10.1016/j.jhep.2016.10.021. Epub 2016 Nov 15. No abstract available.

PMID:
27863814
44.

Capturing schizophrenia-like prodromal symptoms in a spinocerebellar ataxia-17 transgenic rat.

Amato D, Canneva F, Nguyen HP, Bauer P, Riess O, von Hörsten S, Müller CP.

J Psychopharmacol. 2017 Apr;31(4):461-473. doi: 10.1177/0269881116675510. Epub 2016 Nov 10.

PMID:
27856682
45.

Impaired Decision Making and Loss of Inhibitory-Control in a Rat Model of Huntington Disease.

El Massioui N, Lamirault C, Yagüe S, Adjeroud N, Garces D, Maillard A, Tallot L, Yu-Taeger L, Riess O, Allain P, Nguyen HP, von Hörsten S, Doyère V.

Front Behav Neurosci. 2016 Oct 26;10:204. eCollection 2016.

46.

Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient.

Löffler MW, Chandran PA, Laske K, Schroeder C, Bonzheim I, Walzer M, Hilke FJ, Trautwein N, Kowalewski DJ, Schuster H, Günder M, Carcamo Yañez VA, Mohr C, Sturm M, Nguyen HP, Riess O, Bauer P, Nahnsen S, Nadalin S, Zieker D, Glatzle J, Thiel K, Schneiderhan-Marra N, Clasen S, Bösmüller H, Fend F, Kohlbacher O, Gouttefangeas C, Stevanović S, Königsrainer A, Rammensee HG.

J Hepatol. 2016 Oct;65(4):849-855. doi: 10.1016/j.jhep.2016.06.027. Epub 2016 Jul 7. Erratum in: J Hepatol. 2017 Jan;66(1):252-253.

47.

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.

Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L.

Neurology. 2016 Jul 12;87(2):186-91. doi: 10.1212/WNL.0000000000002843. Epub 2016 Jun 17.

48.

International Charter of principles for sharing bio-specimens and data.

Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJ, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M.

Eur J Hum Genet. 2016 Jul;24(7):1096. doi: 10.1038/ejhg.2015.237. No abstract available.

49.

The risk of re-identification versus the need to identify individuals in rare disease research.

Hansson MG, Lochmüller H, Riess O, Schaefer F, Orth M, Rubinstein Y, Molster C, Dawkins H, Taruscio D, Posada M, Woods S.

Eur J Hum Genet. 2016 Nov;24(11):1553-1558. doi: 10.1038/ejhg.2016.52. Epub 2016 May 25.

50.

The calpain-suppressing effects of olesoxime in Huntington's disease.

Weber JJ, Ortiz Rios MM, Riess O, Clemens LE, Nguyen HP.

Rare Dis. 2016 Apr 6;4(1):e1153778. doi: 10.1080/21675511.2016.1153778. eCollection 2016.

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