Research Papers

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Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain development.
Haliburton GD; McKinsey GL; Pollard KS.
Neurogenetics (Unknown)
Published: 2015
1/6 Transparent
Funding Declared
Splicing: is there an alternative contribution to Parkinson's disease?
La Cognata V; D'Agata V; Cavalcanti F; Cavallaro S.
Neurogenetics (Unknown)
Published: 2015
2/6 Transparent
Data Funding Declared
Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases t…
Fittschen M; Lastres-Becker I; Halbach MV; Damrath E; Gispert S; Azizov M; Walter M; Müller S; Auburger G.
Neurogenetics (Unknown)
Published: 2015
1/6 Transparent
Funding Declared
The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.
Sinkiewicz-Darol E; Lacerda AF; Kostera-Pruszczyk A; Potulska-Chromik A; Sokołowska B; Kabzińska D; Brunetti CR; Hausmanowa-Petrusewicz I; Kochański A.
Neurogenetics (Unknown)
Published: 2014
1/6 Transparent
Funding Declared
Dysregulated expression of lipid storage and membrane dynamics factors in Tia1 knockout mouse nervous tissue.
Heck MV; Azizov M; Stehning T; Walter M; Kedersha N; Auburger G.
Neurogenetics (Unknown)
Published: 2014
2/6 Transparent
Data Funding Declared
Rare variants in LRRK1 and Parkinson's disease.
Schulte EC; Ellwanger DC; Dihanich S; Manzoni C; Stangl K; Schormair B; Graf E; Eck S; Mollenhauer B; Haubenberger D; Pirker W; Zimprich A; Brücke T; Lichtner P; Peters A; Gieger C; Trenkwalder C; Mewes HW; Meitinger T; Lewis PA; Klünemann HH; Winkelmann J.
Neurogenetics (Unknown)
Published: 2013
1/6 Transparent
Funding Declared
Mutations in MAPT give rise to aneuploidy in animal models of tauopathy.
Rossi G; Conconi D; Panzeri E; Paoletta L; Piccoli E; Ferretti MG; Mangieri M; Ruggerone M; Dalprà L; Tagliavini F.
Neurogenetics (Unknown)
Published: 2013
2/6 Transparent
Funding Declared
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Ramos EM; Latourelle JC; Gillis T; Mysore JS; Squitieri F; Di Pardo A; Di Donato S; Gellera C; Hayden MR; Morrison PJ; Nance M; Ross CA; Margolis RL; Gomez-Tortosa E; Ayuso C; Suchowersky O; Trent RJ; McCusker E; Novelletto A; Frontali M; Jones R; Ashizawa T; Frank S; Saint-Hilaire MH; Hersch SM; Rosas HD; Lucente D; Harrison MB; Zanko A; Abramson RK; Marder K; Gusella JF; Lee JM; Alonso I; Sequeiros J; Myers RH; Macdonald ME.
Neurogenetics (Unknown)
Published: 2013
2/6 Transparent
Funding Declared
Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y.
Yusuf M; Leung K; Morris KJ; Volpi EV.
Neurogenetics (Unknown)
Published: 2012
2/6 Transparent
Funding Declared
Axonal transport deficit in a KIF5A( -/- ) mouse model.
Karle KN; Möckel D; Reid E; Schöls L.
Neurogenetics (Unknown)
Published: 2012
2/6 Transparent
Funding Declared
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Boyden SE; Mahoney LJ; Kawahara G; Myers JA; Mitsuhashi S; Estrella EA; Duncan AR; Dey F; DeChene ET; Blasko-Goehringer JM; Bönnemann CG; Darras BT; Mendell JR; Lidov HG; Nishino I; Beggs AH; Kunkel LM; Kang PB.
Neurogenetics (Unknown)
Published: 2012
2/6 Transparent
Funding Declared
Restriction of trophic factors and nutrients induces PARKIN expression.
Klinkenberg M; Gispert S; Dominguez-Bautista JA; Braun I; Auburger G; Jendrach M.
Neurogenetics (Unknown)
Published: 2011
2/6 Transparent
Funding Declared
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as fo…
Elfferich P; Verleun-Mooijman MC; Maat-Kievit JA; van de Warrenburg BP; Abdo WF; Eshuis SA; Leenders KL; Hovestadt A; Zijlmans JC; Stroy JP; van Swieten JC; Boon AJ; van Engelen K; Verschuuren-Bemelmans CC; Lesnik-Oberstein SA; Tassorelli C; Lopiano L; Bonifati V; Dooijes D; van Minkelen R.
Neurogenetics (Unknown)
Published: 2011
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).
Alazami AM; Adly N; Al Dhalaan H; Alkuraya FS.
Neurogenetics (Unknown)
Published: 2011
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.
Quadri M; Cossu G; Saddi V; Simons EJ; Murgia D; Melis M; Ticca A; Oostra BA; Bonifati V.
Neurogenetics (Unknown)
Published: 2011
2/6 Transparent
Funding Declared
Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3.
Schleider E; Stahl S; Wüstehube J; Walter U; Fischer A; Felbor U.
Neurogenetics (Unknown)
Published: 2010
1/6 Transparent
Funding Declared
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
Santoro L; Breedveld GJ; Manganelli F; Iodice R; Pisciotta C; Nolano M; Punzo F; Quarantelli M; Pappatà S; Di Fonzo A; Oostra BA; Bonifati V.
Neurogenetics (Unknown)
Published: 2010
2/6 Transparent
Funding Declared
OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug users.
Becker ML; Visser LE; van Schaik RH; Hofman A; Uitterlinden AG; Stricker BH.
Neurogenetics (Unknown)
Published: 2010
2/6 Transparent
Funding Declared
Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (AL…
Matsukawa T; Asheuer M; Takahashi Y; Goto J; Suzuki Y; Shimozawa N; Takano H; Onodera O; Nishizawa M; Aubourg P; Tsuji S.
Neurogenetics (Unknown)
Published: 2010
2/6 Transparent
Funding Declared
Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred.
Breedveld GJ; Fabbrini G; Oostra BA; Berardelli A; Bonifati V.
Neurogenetics (Unknown)
Published: 2010
2/6 Transparent
Funding Declared
Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.
Sakai H; Yoshida K; Shimizu Y; Morita H; Ikeda S; Matsumoto N.
Neurogenetics (Unknown)
Published: 2010
2/6 Transparent
Funding Declared
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Southgate L; Dafou D; Hoyle J; Li N; Kinning E; Critchley P; Németh AH; Talbot K; Bindu PS; Sinha S; Taly AB; Raghavendra S; Müller F; Maher ER; Trembath RC.
Neurogenetics (Unknown)
Published: 2010
3/6 Transparent
Data Funding Declared
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the S…
Leal A; Huehne K; Bauer F; Sticht H; Berger P; Suter U; Morera B; Del Valle G; Lupski JR; Ekici A; Pasutto F; Endele S; Barrantes R; Berghoff C; Berghoff M; Neundörfer B; Heuss D; Dorn T; Young P; Santolin L; Uhlmann T; Meisterernst M; Sereda MW; Stassart RM; Zu Horste GM; Nave KA; Reis A; Rautenstrauss B.
Neurogenetics (Unknown)
Published: 2009
A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse.
Lloyd SE; Maytham EG; Grizenkova J; Hummerich H; Collinge J.
Neurogenetics (Unknown)
Published: 2009
1/6 Transparent
Funding Declared
COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo.
Tong Y; Xu Y; Scearce-Levie K; Ptácek LJ; Fu YH.
Neurogenetics (Unknown)
Published: 2009
2/6 Transparent
Funding Declared