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Items: 1 to 50 of 217

1.

ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy.

Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Bianchi Marzoli S, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F.

Ann Neurol. 2020 Mar 26. doi: 10.1002/ana.25723. [Epub ahead of print]

PMID:
32219868
2.

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group.

Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.

3.

A modified Camel and Cactus Test detects presymptomatic semantic impairment in genetic frontotemporal dementia within the GENFI cohort.

Moore K, Convery R, Bocchetta M, Neason M, Cash DM, Greaves C, Russell LL, Clarke MTM, Peakman G, van Swieten J, Jiskoot L, Moreno F, Barandiaran M, Sanchez-Valle R, Borroni B, Laforce R Jr, Doré MC, Masellis M, Tartaglia MC, Graff C, Galimberti D, Rowe JB, Finger E, Synofzik M, Karnath HO, Vandenberghe R, de Mendonça A, Maruta C, Tagliavini F, Santana I, Ducharme S, Butler C, Gerhard A, Levin J, Danek A, Otto M, Warren JD, Rohrer JD; Genetic FTD Initiative, GENFI.

Appl Neuropsychol Adult. 2020 Feb 5:1-8. doi: 10.1080/23279095.2020.1716357. [Epub ahead of print]

PMID:
32024404
4.

Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia.

Heller C, Foiani MS, Moore K, Convery R, Bocchetta M, Neason M, Cash DM, Thomas D, Greaves CV, Woollacott IO, Shafei R, Van Swieten JC, Moreno F, Sanchez-Valle R, Borroni B, Laforce R Jr, Masellis M, Tartaglia MC, Graff C, Galimberti D, Rowe JB, Finger E, Synofzik M, Vandenberghe R, de Mendonca A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Frisoni G, Sorbi S, Otto M, Heslegrave AJ, Zetterberg H, Rohrer JD; GENFI.

J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):263-270. doi: 10.1136/jnnp-2019-321954. Epub 2020 Jan 14.

PMID:
31937580
5.

ARSACS.

Vermeer S, van de Warrenburg BP, Kamsteeg EJ, Brais B, Synofzik M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2003 Dec 9 [updated 2020 Jan 2].

6.

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study.

Sudre CH, Bocchetta M, Heller C, Convery R, Neason M, Moore KM, Cash DM, Thomas DL, Woollacott IOC, Foiani M, Heslegrave A, Shafei R, Greaves C, van Swieten J, Moreno F, Sanchez-Valle R, Borroni B, Laforce R Jr, Masellis M, Tartaglia MC, Graff C, Galimberti D, Rowe JB, Finger E, Synofzik M, Vandenberghe R, de Mendonça A, Tagliavini F, Santana I, Ducharme S, Butler C, Gerhard A, Levin J, Danek A, Frisoni GB, Sorbi S, Otto M, Zetterberg H, Ourselin S, Cardoso MJ, Rohrer JD; GENFI.

Neuroimage Clin. 2019;24:102077. doi: 10.1016/j.nicl.2019.102077. Epub 2019 Nov 6.

7.

Disentangling brain functional network remodeling in corticobasal syndrome - A multimodal MRI study.

Ballarini T, Albrecht F, Mueller K, Jech R, Diehl-Schmid J, Fliessbach K, Kassubek J, Lauer M, Fassbender K, Schneider A, Synofzik M, Wiltfang J; FTLD Consortium Germany; 4RTNI, Otto M, Schroeter ML.

Neuroimage Clin. 2020;25:102112. doi: 10.1016/j.nicl.2019.102112. Epub 2019 Dec 2.

8.

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Moore KM, Nicholas J, Grossman M, McMillan CT, Irwin DJ, Massimo L, Van Deerlin VM, Warren JD, Fox NC, Rossor MN, Mead S, Bocchetta M, Boeve BF, Knopman DS, Graff-Radford NR, Forsberg LK, Rademakers R, Wszolek ZK, van Swieten JC, Jiskoot LC, Meeter LH, Dopper EG, Papma JM, Snowden JS, Saxon J, Jones M, Pickering-Brown S, Le Ber I, Camuzat A, Brice A, Caroppo P, Ghidoni R, Pievani M, Benussi L, Binetti G, Dickerson BC, Lucente D, Krivensky S, Graff C, Öijerstedt L, Fallström M, Thonberg H, Ghoshal N, Morris JC, Borroni B, Benussi A, Padovani A, Galimberti D, Scarpini E, Fumagalli GG, Mackenzie IR, Hsiung GR, Sengdy P, Boxer AL, Rosen H, Taylor JB, Synofzik M, Wilke C, Sulzer P, Hodges JR, Halliday G, Kwok J, Sanchez-Valle R, Lladó A, Borrego-Ecija S, Santana I, Almeida MR, Tábuas-Pereira M, Moreno F, Barandiaran M, Indakoetxea B, Levin J, Danek A, Rowe JB, Cope TE, Otto M, Anderl-Straub S, de Mendonça A, Maruta C, Masellis M, Black SE, Couratier P, Lautrette G, Huey ED, Sorbi S, Nacmias B, Laforce R Jr, Tremblay ML, Vandenberghe R, Damme PV, Rogalski EJ, Weintraub S, Gerhard A, Onyike CU, Ducharme S, Papageorgiou SG, Ng ASL, Brodtmann A, Finger E, Guerreiro R, Bras J, Rohrer JD; FTD Prevention Initiative.

Lancet Neurol. 2020 Feb;19(2):145-156. doi: 10.1016/S1474-4422(19)30394-1. Epub 2019 Dec 3. Erratum in: Lancet Neurol. 2020 Feb;19(2):e2.

9.

Parkinsonism in neurodegenerative diseases predominantly presenting with ataxia.

Synofzik M.

Int Rev Neurobiol. 2019;149:277-298. doi: 10.1016/bs.irn.2019.10.019. Epub 2019 Nov 21.

PMID:
31779816
10.

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study.

van der Ende EL, Meeter LH, Poos JM, Panman JL, Jiskoot LC, Dopper EGP, Papma JM, de Jong FJ, Verberk IMW, Teunissen C, Rizopoulos D, Heller C, Convery RS, Moore KM, Bocchetta M, Neason M, Cash DM, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Carmela Tartaglia M, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler C, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Frisoni GB, Cappa S, Pijnenburg YAL, Rohrer JD, van Swieten JC; Genetic Frontotemporal dementia Initiative (GENFI).

Lancet Neurol. 2019 Dec;18(12):1103-1111. doi: 10.1016/S1474-4422(19)30354-0. Erratum in: Lancet Neurol. 2020 Jan;19(1):e1.

PMID:
31701893
11.

A combined miRNA-piRNA signature to detect Alzheimer's disease.

Jain G, Stuendl A, Rao P, Berulava T, Pena Centeno T, Kaurani L, Burkhardt S, Delalle I, Kornhuber J, Hüll M, Maier W, Peters O, Esselmann H, Schulte C, Deuschle C, Synofzik M, Wiltfang J, Mollenhauer B, Maetzler W, Schneider A, Fischer A.

Transl Psychiatry. 2019 Oct 7;9(1):250. doi: 10.1038/s41398-019-0579-2.

12.

The motor band sign in ALS: presentations and frequencies in a consecutive series of ALS patients.

Roeben B, Wilke C, Bender B, Ziemann U, Synofzik M.

J Neurol Sci. 2019 Nov 15;406:116440. doi: 10.1016/j.jns.2019.116440. Epub 2019 Aug 30.

PMID:
31521959
13.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA.

Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10. Review.

PMID:
31481303
14.

Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures.

Hohenfeld C, Dogan I, Schubert R, Didszun C, Schöls L, Synofzik M, Giordano IA, Klockgether T, Schulz JB, Reilmann R, Reetz K.

Cerebellum. 2019 Oct;18(5):896-909. doi: 10.1007/s12311-019-01073-x.

PMID:
31441004
15.

Effects of Exergaming on Attentional Deficits and Dual-Tasking in Parkinson's Disease.

Schaeffer E, Busch JH, Roeben B, Otterbein S, Saraykin P, Leks E, Liepelt-Scarfone I, Synofzik M, Elshehabi M, Maetzler W, Hansen C, Andris S, Berg D.

Front Neurol. 2019 Jun 19;10:646. doi: 10.3389/fneur.2019.00646. eCollection 2019.

16.

Correlations between serum and CSF pNfH levels in ALS, FTD and controls: a comparison of three analytical approaches.

Wilke C, Pujol-Calderón F, Barro C, Stransky E, Blennow K, Michalak Z, Deuschle C, Jeromin A, Zetterberg H, Schüle R, Höglund K, Kuhle J, Synofzik M.

Clin Chem Lab Med. 2019 Sep 25;57(10):1556-1564. doi: 10.1515/cclm-2019-0015.

PMID:
31251725
17.

Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin system.

Rinaldi L, Delle Donne R, Catalanotti B, Torres-Quesada O, Enzler F, Moraca F, Nisticò R, Chiuso F, Piccinin S, Bachmann V, Lindner HH, Garbi C, Scorziello A, Russo NA, Synofzik M, Stelzl U, Annunziato L, Stefan E, Feliciello A.

Nat Commun. 2019 Jun 12;10(1):2572. doi: 10.1038/s41467-019-10037-y.

18.

Education modulates brain maintenance in presymptomatic frontotemporal dementia.

Gazzina S, Grassi M, Premi E, Cosseddu M, Alberici A, Archetti S, Gasparotti R, Van Swieten J, Galimberti D, Sanchez-Valle R, Laforce RJ, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Frisoni G, Sorbi S, Padovani A, Rohrer JD, Borroni B; Genetic FTD Initiative, GENFI.

J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1124-1130. doi: 10.1136/jnnp-2019-320439. Epub 2019 Jun 10.

PMID:
31182509
19.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009. No abstract available.

20.

Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia.

Meeter LHH, Steketee RME, Salkovic D, Vos ME, Grossman M, McMillan CT, Irwin DJ, Boxer AL, Rojas JC, Olney NT, Karydas A, Miller BL, Pijnenburg YAL, Barkhof F, Sánchez-Valle R, Lladó A, Borrego-Ecija S, Diehl-Schmid J, Grimmer T, Goldhardt O, Santillo AF, Hansson O, Vestberg S, Borroni B, Padovani A, Galimberti D, Scarpini E, Rohrer JD, Woollacott IOC, Synofzik M, Wilke C, de Mendonca A, Vandenberghe R, Benussi L, Ghidoni R, Binetti G, Niessen WJ, Papma JM, Seelaar H, Jiskoot LC, de Jong FJ, Donker Kaat L, Del Campo M, Teunissen CE, Bron EE, Van den Berg E, Van Swieten JC.

J Neurol Neurosurg Psychiatry. 2019 Sep;90(9):997-1004. doi: 10.1136/jnnp-2018-319784. Epub 2019 May 23.

21.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A.

Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.

PMID:
31068484
22.

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.

Kuchay RAH, Mir YR, Zeng X, Hassan A, Musarrat J, Parwez I, Kernstock C, Traschütz A, Synofzik M.

Cerebellum. 2019 Aug;18(4):807-812. doi: 10.1007/s12311-019-01028-2.

PMID:
30963395
23.

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.

Kloth K, Synofzik M, Kernstock C, Schimpf-Linzenbold S, Schuettauf F, Neu A, Wissinger B, Weisschuh N.

BMC Med Genet. 2019 Apr 8;20(1):62. doi: 10.1186/s12881-019-0795-x.

24.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Erratum in: Am J Hum Genet. 2019 Jun 6;104(6):1251.

25.

Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging.

Albrecht F, Mueller K, Ballarini T, Lampe L, Diehl-Schmid J, Fassbender K, Fliessbach K, Jahn H, Jech R, Kassubek J, Kornhuber J, Landwehrmeyer B, Lauer M, Ludolph AC, Lyros E, Prudlo J, Schneider A, Synofzik M, Wiltfang J, Danek A, Otto M; FTLD-Consortium, Schroeter ML.

Cortex. 2019 Aug;117:33-40. doi: 10.1016/j.cortex.2019.02.015. Epub 2019 Feb 25.

26.

The molecular pathogenesis of superoxide dismutase 1-linked ALS is promoted by low oxygen tension.

Keskin I, Forsgren E, Lehmann M, Andersen PM, Brännström T, Lange DJ, Synofzik M, Nordström U, Zetterström P, Marklund SL, Gilthorpe JD.

Acta Neuropathol. 2019 Jul;138(1):85-101. doi: 10.1007/s00401-019-01986-1. Epub 2019 Mar 12.

27.

Real-time use of audio-biofeedback can improve postural sway in patients with degenerative ataxia.

Fleszar Z, Mellone S, Giese M, Tacconi C, Becker C, Schöls L, Synofzik M, Ilg W.

Ann Clin Transl Neurol. 2018 Nov 28;6(2):285-294. doi: 10.1002/acn3.699. eCollection 2019 Feb.

28.

Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS.

Vogel AP, Stoll LH, Oettinger A, Rommel N, Kraus EM, Timmann D, Scott D, Atay C, Storey E, Schöls L, Synofzik M.

J Neurol. 2019 May;266(5):1260-1266. doi: 10.1007/s00415-019-09258-4. Epub 2019 Mar 6.

PMID:
30840144
29.

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.

Synofzik M, Puccio H, Mochel F, Schöls L.

Neuron. 2019 Feb 20;101(4):560-583. doi: 10.1016/j.neuron.2019.01.049. Review.

30.

Pattern of Cerebellar Atrophy in Friedreich's Ataxia-Using the SUIT Template.

Lindig T, Bender B, Kumar VJ, Hauser TK, Grodd W, Brendel B, Just J, Synofzik M, Klose U, Scheffler K, Ernemann U, Schöls L.

Cerebellum. 2019 Jun;18(3):435-447. doi: 10.1007/s12311-019-1008-z.

PMID:
30771164
31.

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, Dickson DW, Biernacka JM, Rademakers R.

Acta Neuropathol. 2019 Jun;137(6):879-899. doi: 10.1007/s00401-019-01962-9. Epub 2019 Feb 9.

PMID:
30739198
32.

The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint.

Premi E, Calhoun VD, Diano M, Gazzina S, Cosseddu M, Alberici A, Archetti S, Paternicò D, Gasparotti R, van Swieten J, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe J, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler C, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Frisoni G, Cappa S, Sorbi S, Padovani A, Rohrer JD, Borroni B; Genetic FTD Initiative, GENFI.

Neuroimage. 2019 Apr 1;189:645-654. doi: 10.1016/j.neuroimage.2019.01.080. Epub 2019 Feb 1.

33.

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Sobrido MJ, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson MC, Synofzik M, Hendriksz CJ.

Orphanet J Rare Dis. 2019 Jan 21;14(1):20. doi: 10.1186/s13023-018-0985-1. Review.

34.

Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome.

Roeben B, Blum D, Gabriel H, Synofzik M.

J Neurol. 2019 Mar;266(3):775-776. doi: 10.1007/s00415-019-09182-7. Epub 2019 Jan 7. No abstract available.

PMID:
30617906
35.

Fall Risk in Relation to Individual Physical Activity Exposure in Patients with Different Neurodegenerative Diseases: a Pilot Study.

Srulijes K, Klenk J, Schwenk M, Schatton C, Schwickert L, Teubner-Liepert K, Meyer M, K C S, Maetzler W, Becker C, Synofzik M.

Cerebellum. 2019 Jun;18(3):340-348. doi: 10.1007/s12311-018-1002-x.

PMID:
30617629
36.

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. 2019 May;62:215-220. doi: 10.1016/j.parkreldis.2018.11.027. Epub 2018 Nov 29.

PMID:
30522958
37.

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic.

Rattay TW, Just J, Röben B, Hengel H, Schüle R, Synofzik M, Söhn AS, Winter N, Dammeier N, Schöls L, Grimm A.

Orphanet J Rare Dis. 2018 Nov 3;13(1):194. doi: 10.1186/s13023-018-0939-7.

38.

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.

Traschütz A, Hayer SN, Bender B, Schöls L, Biskup S, Synofzik M.

Parkinsonism Relat Disord. 2019 Mar;60:176-178. doi: 10.1016/j.parkreldis.2018.09.031. Epub 2018 Sep 29. No abstract available.

PMID:
30297209
39.

Serum neurofilament light chain is increased in hereditary spastic paraplegias.

Wilke C, Rattay TW, Hengel H, Zimmermann M, Brockmann K, Schöls L, Kuhle J, Schüle R, Synofzik M.

Ann Clin Transl Neurol. 2018 May 21;5(7):876-882. doi: 10.1002/acn3.583. eCollection 2018 Jul.

40.

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Vogel AP, Rommel N, Oettinger A, Stoll LH, Kraus EM, Gagnon C, Horger M, Krumm P, Timmann D, Storey E, Schöls L, Synofzik M.

J Neurol. 2018 Sep;265(9):2060-2070. doi: 10.1007/s00415-018-8950-4. Epub 2018 Jul 2.

PMID:
29968200
41.

Structural characteristics of the central nervous system in Friedreich ataxia: an in vivo spinal cord and brain MRI study.

Dogan I, Romanzetti S, Didszun C, Mirzazade S, Timmann D, Saft C, Schöls L, Synofzik M, Giordano IA, Klockgether T, Schulz JB, Reetz K.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):615-617. doi: 10.1136/jnnp-2018-318422. Epub 2018 Jun 26. No abstract available.

PMID:
29945881
42.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R.

Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.

43.

Biallelic Parkin (PARK2) mutations can cause a bvFTD phenotype without clinically relevant parkinsonism.

Zimmermann M, Wilke C, Schulte C, Hoffmann J, Klopfer J, Reimold M, Brockmann K, Synofzik M.

Parkinsonism Relat Disord. 2018 Oct;55:145-147. doi: 10.1016/j.parkreldis.2018.06.006. Epub 2018 Jun 6. No abstract available.

PMID:
29910155
44.

Recessive ataxias.

Synofzik M, Németh AH.

Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. Review.

PMID:
29891078
45.

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.

Baradaran-Heravi Y, Dillen L, Nguyen HP, Van Mossevelde S, Baets J, De Jonghe P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenberghe R, Van Damme P, Cras P, Salmon E, Synofzik M, Heutink P, Wilke C, Simon-Sanchez J, Rojas-Garcia R, Turon-Sans J, Lleó A, Illán-Gala I, Clarimón J, Borroni B, Padovani A, Pastor P, Diez-Fairen M, Aguilar M, Gelpi E, Sanchez-Valle R, Borrego-Ecija S, Matej R, Parobkova E, Nacmias B, Sorbi S, Bagnoli S, de Mendonça A, Ferreira C, Fraidakis MJ, Diehl-Schmid J, Alexopoulos P, Almeida MR, Santana I, Van Broeckhoven C, van der Zee J; BELNEU Consortium; EU EOD Consortium.

Neurobiol Aging. 2018 Sep;69:293.e9-293.e11. doi: 10.1016/j.neurobiolaging.2018.05.005. Epub 2018 May 23.

46.

Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures.

Lessard I, Brais B, Côté I, Lavoie C, Synofzik M, Mathieu J, Gagnon C.

J Neurol Sci. 2018 Jul 15;390:4-9. doi: 10.1016/j.jns.2018.03.033. Epub 2018 Mar 30.

PMID:
29801904
47.

The genetic nomenclature of recessive cerebellar ataxias.

Rossi M, Anheim M, Durr A, Klein C, Koenig M, Synofzik M, Marras C, van de Warrenburg BP; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders.

Mov Disord. 2018 Jul;33(7):1056-1076. doi: 10.1002/mds.27415. Epub 2018 May 14. Review.

PMID:
29756227
48.

Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study.

Wilke C, Bender F, Hayer SN, Brockmann K, Schöls L, Kuhle J, Synofzik M.

J Neurol. 2018 Jul;265(7):1618-1624. doi: 10.1007/s00415-018-8893-9. Epub 2018 May 8.

PMID:
29737427
49.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Öijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R.

Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30.

50.

Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.

Schuster S, Schelling Y, Synofzik M, Höflinger P, Schöls L, Hauser S.

Stem Cell Res. 2018 May;29:166-169. doi: 10.1016/j.scr.2018.04.001. Epub 2018 Apr 9.

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