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Items: 1 to 50 of 245

1.

Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.

Dusek P, Mekle R, Skowronska M, Acosta-Cabronero J, Huelnhagen T, Robinson SD, Schubert F, Deschauer M, Els A, Ittermann B, Schottmann G, Madai VI, Paul F, Klopstock T, Kmiec T, Niendorf T, Wuerfel J, Schneider SA.

Mov Disord. 2019 Sep 13. doi: 10.1002/mds.27827. [Epub ahead of print]

PMID:
31518459
2.

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.

Bax BE, Levene M, Bain MD, Fairbanks LD, Filosto M, Kalkan Uçar S, Klopstock T, Kornblum C, Mandel H, Rahman S, Roubertie A, Scarpelli M, Sedgwick PM, Baru M, Sellos-Moura M, Price J, Horn P, Nirmalananthan N.

J Clin Med. 2019 Jul 24;8(8). pii: E1096. doi: 10.3390/jcm8081096.

3.

Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.

Stendel C, Wagner M, Rudolph G, Klopstock T.

Neuropediatrics. 2019 Jul 24. doi: 10.1055/s-0039-1693150. [Epub ahead of print]

PMID:
31340402
4.

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.

Marshall RD, Collins A, Escolar ML, Jinnah HA, Klopstock T, Kruer MC, Videnovic A, Robichaux-Viehoever A, Burns C, Swett LL, Revicki DA, Bender RH, Lenderking WR.

Orphanet J Rare Dis. 2019 Jul 12;14(1):174. doi: 10.1186/s13023-019-1142-1.

5.

Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.

Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmieć T, Büchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Küpper C, Neuhofer C, Kálmán B, Dušek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick SJ, Spino M, Blamire AM, Hogarth P, Vichinsky E.

Lancet Neurol. 2019 Jul;18(7):631-642. doi: 10.1016/S1474-4422(19)30142-5.

PMID:
31202468
6.

Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.

Segal J, Mülleder M, Krüger A, Adler T, Scholze-Wittler M, Becker L, Calzada-Wack J, Garrett L, Hölter SM, Rathkolb B, Rozman J, Racz I, Fischer R, Busch DH, Neff F, Klingenspor M, Klopstock T, Grüning NM, Michel S, Lukaszewska-McGreal B, Voigt I, Hartmann L, Timmermann B, Lehrach H, Wolf E, Wurst W, Gailus-Durner V, Fuchs H, H de Angelis M, Schrewe H, Yuneva M, Ralser M.

J Inherit Metab Dis. 2019 Sep;42(5):839-849. doi: 10.1002/jimd.12105. Epub 2019 Jun 11.

PMID:
31111503
7.

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
8.

The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration.

Klopstock T, Escolar ML, Marshall RD, Perez-Dueñas B, Tuller S, Videnovic A, Greblikas F.

Clin Trials. 2019 Aug;16(4):410-418. doi: 10.1177/1740774519845673. Epub 2019 May 6.

9.

Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia.

Vetrivel S, Tiso N, Kügler A, Irmler M, Horsch M, Beckers J, Hladik D, Giesert F, Gailus-Durner V, Fuchs H, Sabrautzki S; German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany, Adler T, Treise I, Busch DH, Aguilar-Pimentel A, Ollert M, Götz A, Amarie OV, Stoeger T, Schulz H, Becker L, Klopstock T, Schrewe A, Spielmann N, Bekeredjian R, Garrett L, Hölter SM, Zimprich A, Wurst W, Mayer-Kuckuk P, Hans W, Rozman J, Klingenspor M, Neff F, da Silva-Buttkus P, Calzada-Wack J, Rácz I, Zimmer A, Rathkolb B, Wolf E, Prehn C, Adamski J, Östereicher M, Miller G, Steinkamp R, Lengger C, Maier H, Stoeger C, Leuchtenberger S, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Hrabě de Angelis M, Graw J.

Exp Eye Res. 2019 Apr 13. pii: S0014-4835(18)30702-4. doi: 10.1016/j.exer.2019.03.024. [Epub ahead of print]

10.

Prognostic factors in ALS: a comparison between Germany and China.

Dorst J, Chen L, Rosenbohm A, Dreyhaupt J, Hübers A, Schuster J, Weishaupt JH, Kassubek J, Gess B, Meyer T, Weyen U, Hermann A, Winkler J, Grehl T, Hagenacker T, Lingor P, Koch JC, Sperfeld A, Petri S, Großkreutz J, Metelmann M, Wolf J, Winkler AS, Klopstock T, Boentert M, Johannesen S, Storch A, Schrank B, Zeller D, Liu XL, Tang L, Fan DS, Ludolph AC.

J Neurol. 2019 Jun;266(6):1516-1525. doi: 10.1007/s00415-019-09290-4. Epub 2019 Mar 28.

PMID:
30923935
11.

A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration.

Marshall RD, Collins A, Escolar ML, Jinnah HA, Klopstock T, Kruer MC, Videnovic A, Robichaux-Viehoever A, Swett L, Revicki DA, Bender RH, Lenderking WR.

Mov Disord Clin Pract. 2019 Jan 22;6(2):139-149. doi: 10.1002/mdc3.12716. eCollection 2019 Feb.

PMID:
30838313
12.

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.

Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ.

Hum Mutat. 2019 May;40(5):499-515. doi: 10.1002/humu.23723. Epub 2019 Mar 4.

PMID:
30763462
13.

Charles Bonnet syndrome in Leber's hereditary optic neuropathy.

Kolarova H, Catarino CB, Priglinger C, Klopstock T.

J Neurol. 2019 Mar;266(3):777-779. doi: 10.1007/s00415-019-09205-3. Epub 2019 Jan 28. No abstract available.

PMID:
30687896
14.

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.

15.

[Mitochondrial diseases].

Radelfahr F, Klopstock T.

Nervenarzt. 2019 Feb;90(2):121-130. doi: 10.1007/s00115-018-0666-2. Review. German.

PMID:
30643957
16.

A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.

Jensen LR, Garrett L, Hölter SM, Rathkolb B, Rácz I, Adler T, Prehn C, Hans W, Rozman J, Becker L, Aguilar-Pimentel JA, Puk O, Moreth K, Dopatka M, Walther DJ, von Bohlen Und Halbach V, Rath M, Delatycki M, Bert B, Fink H, Blümlein K, Ralser M, Van Dijck A, Kooy F, Stark Z, Müller S, Scherthan H, Gecz J, Wurst W, Wolf E, Zimmer A, Klingenspor M, Graw J, Klopstock T, Busch D, Adamski J, Fuchs H, Gailus-Durner V, de Angelis MH, von Bohlen Und Halbach O, Ropers HH, Kuss AW.

Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2083-2093. doi: 10.1016/j.bbadis.2018.12.011. Epub 2018 Dec 14.

17.

Neuron-specific inactivation of Wt1 alters locomotion in mice and changes interneuron composition in the spinal cord.

Schnerwitzki D, Perry S, Ivanova A, Caixeta FV, Cramer P, Günther S, Weber K, Tafreshiha A, Becker L, Vargas Panesso IL, Klopstock T, Hrabe de Angelis M, Schmidt M, Kullander K, Englert C.

Life Sci Alliance. 2018 Aug 16;1(4):e201800106. doi: 10.26508/lsa.201800106. eCollection 2018 Aug.

18.

[Diagnostic and Therapeutic Approaches for Mitochondrial Diseases].

Radelfahr F, Klopstock T.

Fortschr Neurol Psychiatr. 2018 Sep;86(9):584-591. doi: 10.1055/a-0621-9255. Epub 2018 Sep 24. Review. German.

PMID:
30248691
19.

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, Rodríguez de Rivera Garrido FJ, Schöls L, Giordano I, Bürk K, Pandolfo M, Schulz JB; EFACTS Study Group.

Neurology. 2018 Sep 4;91(10):e917-e930. doi: 10.1212/WNL.0000000000006121. Epub 2018 Aug 10.

PMID:
30097477
20.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S.

Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.

21.

Laboratory mouse housing conditions can be improved using common environmental enrichment without compromising data.

André V, Gau C, Scheideler A, Aguilar-Pimentel JA, Amarie OV, Becker L, Garrett L, Hans W, Hölter SM, Janik D, Moreth K, Neff F, Östereicher M, Racz I, Rathkolb B, Rozman J, Bekeredjian R, Graw J, Klingenspor M, Klopstock T, Ollert M, Schmidt-Weber C, Wolf E, Wurst W, Gailus-Durner V, Brielmeier M, Fuchs H, Hrabé de Angelis M.

PLoS Biol. 2018 Apr 16;16(4):e2005019. doi: 10.1371/journal.pbio.2005019. eCollection 2018 Apr.

22.

Comprehensive analysis of the mutation spectrum in 301 German ALS families.

Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827. doi: 10.1136/jnnp-2017-317611. Epub 2018 Apr 12.

PMID:
29650794
23.

Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.

Schönecker S, Neuhofer C, Otto M, Ludolph A, Kassubek J, Landwehrmeyer B, Anderl-Straub S, Semler E, Diehl-Schmid J, Prix C, Vollmar C, Fortea J; Deutsches FTLD-Konsortium, Huppertz HJ, Arzberger T, Edbauer D, Feddersen B, Dieterich M, Schroeter ML, Volk AE, Fließbach K, Schneider A, Kornhuber J, Maler M, Prudlo J, Jahn H, Boeckh-Behrens T, Danek A, Klopstock T, Levin J.

Front Aging Neurosci. 2018 Mar 15;10:45. doi: 10.3389/fnagi.2018.00045. eCollection 2018.

24.

Hot-spot KIF5A mutations cause familial ALS.

Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET.

Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370.

25.

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements.

Tanguy Melac A, Mariotti C, Filipovic Pierucci A, Giunti P, Arpa J, Boesch S, Klopstock T, Müller Vom Hagen J, Klockgether T, Bürk K, Schulz JB, Reetz K, Pandolfo M, Durr A, Tezenas du Montcel S; EFACTS group.

J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):559-565. doi: 10.1136/jnnp-2017-316964. Epub 2017 Dec 26.

PMID:
29279305
26.

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Catarino CB, Vollmar C, Küpper C, Seelos K, Gallenmüller C, Bartkiewicz J, Biskup S, Hörtnagel K, Klopstock T.

J Neurol. 2018 Feb;265(2):388-393. doi: 10.1007/s00415-017-8711-9. Epub 2017 Dec 19.

PMID:
29260356
27.

Female mice lacking Pald1 exhibit endothelial cell apoptosis and emphysema.

Egaña I, Kaito H, Nitzsche A, Becker L, Ballester-Lopez C, Niaudet C, Petkova M, Liu W, Vanlandewijck M, Vernaleken A, Klopstock T, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Rask-Andersen H, Johansson HJ, Lehtiö J, He L, Yildirim AÖ, Hellström M; German Mouse Clinic Consortium.

Sci Rep. 2017 Nov 13;7(1):15453. doi: 10.1038/s41598-017-14894-9.

28.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R.

Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273.

29.

International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.

Mancuso M, McFarland R, Klopstock T, Hirano M; consortium on Trial Readiness in Mitochondrial Myopathies.

Neuromuscul Disord. 2017 Dec;27(12):1126-1137. doi: 10.1016/j.nmd.2017.08.006. Epub 2017 Sep 8. No abstract available.

30.

Mitochondrial disorders of the retinal ganglion cells and the optic nerve.

Finsterer J, Mancuso M, Pareyson D, Burgunder JM, Klopstock T.

Mitochondrion. 2018 Sep;42:1-10. doi: 10.1016/j.mito.2017.10.003. Epub 2017 Oct 18. Review.

PMID:
29054473
31.

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

Carelli V, Carbonelli M, de Coo IF, Kawasaki A, Klopstock T, Lagrèze WA, La Morgia C, Newman NJ, Orssaud C, Pott JWR, Sadun AA, van Everdingen J, Vignal-Clermont C, Votruba M, Yu-Wai-Man P, Barboni P.

J Neuroophthalmol. 2017 Dec;37(4):371-381. doi: 10.1097/WNO.0000000000000570.

PMID:
28991104
32.

Understanding gene functions and disease mechanisms: Phenotyping pipelines in the German Mouse Clinic.

Fuchs H, Aguilar-Pimentel JA, Amarie OV, Becker L, Calzada-Wack J, Cho YL, Garrett L, Hölter SM, Irmler M, Kistler M, Kraiger M, Mayer-Kuckuk P, Moreth K, Rathkolb B, Rozman J, da Silva Buttkus P, Treise I, Zimprich A, Gampe K, Hutterer C, Stöger C, Leuchtenberger S, Maier H, Miller M, Scheideler A, Wu M, Beckers J, Bekeredjian R, Brielmeier M, Busch DH, Klingenspor M, Klopstock T, Ollert M, Schmidt-Weber C, Stöger T, Wolf E, Wurst W, Yildirim AÖ, Zimmer A, Gailus-Durner V, Hrabě de Angelis M.

Behav Brain Res. 2018 Oct 15;352:187-196. doi: 10.1016/j.bbr.2017.09.048. Epub 2017 Sep 29. Review.

PMID:
28966146
33.

Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice.

Kumar S, Rathkolb B, Sabrautzki S, Krebs S, Kemter E, Becker L, Beckers J, Bekeredjian R, Brommage R, Calzada-Wack J, Garrett L, Hölter SM, Horsch M, Klingenspor M, Klopstock T, Moreth K, Neff F, Rozman J, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Wolf E, Aigner B.

J Biomed Sci. 2017 Aug 17;24(1):57. doi: 10.1186/s12929-017-0365-5.

34.

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T.

Neurology. 2017 Sep 5;89(10):1043-1049. doi: 10.1212/WNL.0000000000004311. Epub 2017 Aug 9.

PMID:
28794257
35.

Every-other-day feeding extends lifespan but fails to delay many symptoms of aging in mice.

Xie K, Neff F, Markert A, Rozman J, Aguilar-Pimentel JA, Amarie OV, Becker L, Brommage R, Garrett L, Henzel KS, Hölter SM, Janik D, Lehmann I, Moreth K, Pearson BL, Racz I, Rathkolb B, Ryan DP, Schröder S, Treise I, Bekeredjian R, Busch DH, Graw J, Ehninger G, Klingenspor M, Klopstock T, Ollert M, Sandholzer M, Schmidt-Weber C, Weiergräber M, Wolf E, Wurst W, Zimmer A, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Ehninger D.

Nat Commun. 2017 Jul 24;8(1):155. doi: 10.1038/s41467-017-00178-3.

36.

Fgf9 Y162C Mutation Alters Information Processing and Social Memory in Mice.

Garrett L, Becker L, Rozman J, Puk O, Stoeger T, Yildirim AÖ, Bohla A, Eickelberg O, Hans W, Prehn C, Adamski J, Klopstock T, Rácz I, Zimmer A, Klingenspor M, Fuchs H, Gailus-Durner V, Wurst W, Hrabě de Angelis M, Graw J, Hölter SM.

Mol Neurobiol. 2018 Jun;55(6):4580-4595. doi: 10.1007/s12035-017-0659-3. Epub 2017 Jul 10.

PMID:
28695538
37.

Meis1: effects on motor phenotypes and the sensorimotor system in mice.

Salminen AV, Garrett L, Schormair B, Rozman J, Giesert F, Niedermeier KM, Becker L, Rathkolb B, Rácz I; German Mouse Clinic Consortium, Klingenspor M, Klopstock T, Wolf E, Zimmer A, Gailus-Durner V, Torres M, Fuchs H, Hrabě de Angelis M, Wurst W, Hölter SM, Winkelmann J.

Dis Model Mech. 2017 Aug 1;10(8):981-991. doi: 10.1242/dmm.030080. Epub 2017 Jun 23.

38.

[Risk genes in myopathies and mitochondrial diseases].

Stendel C, Walter MC, Klopstock T.

Nervenarzt. 2017 Jul;88(7):736-743. doi: 10.1007/s00115-017-0350-y. Review. German.

PMID:
28573363
39.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Erratum in: Brain. 2017 Dec 9;:.

40.

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.

Schludi MH, Becker L, Garrett L, Gendron TF, Zhou Q, Schreiber F, Popper B, Dimou L, Strom TM, Winkelmann J, von Thaden A, Rentzsch K, May S, Michaelsen M, Schwenk BM, Tan J, Schoser B, Dieterich M, Petrucelli L, Hölter SM, Wurst W, Fuchs H, Gailus-Durner V, de Angelis MH, Klopstock T, Arzberger T, Edbauer D.

Acta Neuropathol. 2017 Aug;134(2):241-254. doi: 10.1007/s00401-017-1711-0. Epub 2017 Apr 13.

41.

A paternal methyl donor-rich diet altered cognitive and neural functions in offspring mice.

Ryan DP, Henzel KS, Pearson BL, Siwek ME, Papazoglou A, Guo L, Paesler K, Yu M, Müller R, Xie K, Schröder S, Becker L, Garrett L, Hölter SM, Neff F, Rácz I, Rathkolb B, Rozman J, Ehninger G, Klingenspor M, Klopstock T, Wolf E, Wurst W, Zimmer A, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Sidiropoulou K, Weiergräber M, Zhou Y, Ehninger D.

Mol Psychiatry. 2018 May;23(5):1345-1355. doi: 10.1038/mp.2017.53. Epub 2017 Apr 4.

42.

Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteins.

Zhou Q, Lehmer C, Michaelsen M, Mori K, Alterauge D, Baumjohann D, Schludi MH, Greiling J, Farny D, Flatley A, Feederle R, May S, Schreiber F, Arzberger T, Kuhm C, Klopstock T, Hermann A, Haass C, Edbauer D.

EMBO Mol Med. 2017 May;9(5):687-702. doi: 10.15252/emmm.201607054.

43.

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S.

Neuromuscul Disord. 2017 May;27(5):473-476. doi: 10.1016/j.nmd.2017.02.005. Epub 2017 Feb 14.

PMID:
28279569
44.

Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial.

Feil K, Adrion C, Teufel J, Bösch S, Claassen J, Giordano I, Hengel H, Jacobi H, Klockgether T, Klopstock T, Nachbauer W, Schöls L, Stendel C, Uslar E, van de Warrenburg B, Berger I, Naumann I, Bayer O, Müller HH, Mansmann U, Strupp M.

BMC Neurol. 2017 Jan 10;17(1):7. doi: 10.1186/s12883-016-0786-x.

45.

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

Karin I, Borggraefe I, Catarino CB, Kuhm C, Hoertnagel K, Biskup S, Opladen T, Blau N, Heinen F, Klopstock T.

J Neurol. 2017 Mar;264(3):578-582. doi: 10.1007/s00415-016-8387-6. Epub 2017 Jan 4. No abstract available.

PMID:
28054128
46.

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).

Hogarth P, Kurian MA, Gregory A, Csányi B, Zagustin T, Kmiec T, Wood P, Klucken A, Scalise N, Sofia F, Klopstock T, Zorzi G, Nardocci N, Hayflick SJ.

Mol Genet Metab. 2017 Mar;120(3):278-287. doi: 10.1016/j.ymgme.2016.11.004. Epub 2016 Dec 27. No abstract available.

PMID:
28034613
47.

Serum Response Factor (SRF) Ablation Interferes with Acute Stress-Associated Immediate and Long-Term Coping Mechanisms.

Zimprich A, Mroz G, Meyer Zu Reckendorf C, Anastasiadou S, Förstner P, Garrett L, Hölter SM, Becker L, Rozman J, Prehn C, Rathkolb B, Moreth K, Wurst W, Klopstock T, Klingenspor M, Adamski J, Wolf E, Bekeredjian R, Fuchs H, Gailus-Durner V, de Angelis MH, Knöll B.

Mol Neurobiol. 2017 Dec;54(10):8242-8262. doi: 10.1007/s12035-016-0300-x. Epub 2016 Dec 2.

PMID:
27914009
48.

Mitochondrial replacement approaches: challenges for clinical implementation.

Klopstock T, Klopstock B, Prokisch H.

Genome Med. 2016 Nov 25;8(1):126.

49.

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.

Reetz K, Dogan I, Hilgers RD, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, de Rivera FJR, Schöls L, Klockgether T, Bürk K, Rai M, Pandolfo M, Schulz JB; EFACTS Study Group.

Lancet Neurol. 2016 Dec;15(13):1346-1354. doi: 10.1016/S1474-4422(16)30287-3. Erratum in: Lancet Neurol. 2017 Dec;16(12 ):954.

PMID:
27839651
50.

The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations.

Fuchs H, Sabrautzki S, Przemeck GK, Leuchtenberger S, Lorenz-Depiereux B, Becker L, Rathkolb B, Horsch M, Garrett L, Östereicher MA, Hans W, Abe K, Sagawa N, Rozman J, Vargas-Panesso IL, Sandholzer M, Lisse TS, Adler T, Aguilar-Pimentel JA, Calzada-Wack J, Ehrhard N, Elvert R, Gau C, Hölter SM, Micklich K, Moreth K, Prehn C, Puk O, Racz I, Stoeger C, Vernaleken A, Michel D, Diener S, Wieland T, Adamski J, Bekeredjian R, Busch DH, Favor J, Graw J, Klingenspor M, Lengger C, Maier H, Neff F, Ollert M, Stoeger T, Yildirim AÖ, Strom TM, Zimmer A, Wolf E, Wurst W, Klopstock T, Beckers J, Gailus-Durner V, Hrabé de Angelis M.

G3 (Bethesda). 2016 Dec 7;6(12):4035-4046. doi: 10.1534/g3.116.033670.

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