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Items: 1 to 50 of 339

1.

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.

2.

Generation of an induced pluripotent stem cell line from a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): HIHCNi003-A.

Hayer SN, Schelling Y, Hoeflinger P, Hauser S, Schöls L.

Stem Cell Res. 2018 Jul;30:206-209. doi: 10.1016/j.scr.2018.06.011. Epub 2018 Jun 20.

3.

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 Jul 2. doi: 10.1007/s00415-018-8950-4. [Epub ahead of print]

PMID:
29968200
4.

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Sarro L, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Nachbauer W, Kang JS, Pandolfo M, Schulz JB, Melac AT, Diallo A, Klockgether T.

J Neurol. 2018 Jun 29. doi: 10.1007/s00415-018-8954-0. [Epub ahead of print]

PMID:
29959555
5.

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. 2018 Jun 26. pii: jnnp-2018-318422. doi: 10.1136/jnnp-2018-318422. [Epub ahead of print] No abstract available.

PMID:
29945881
6.

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A.

Hayer SN, Schelling Y, Huebener-Schmid J, Weber JJ, Hauser S, Schöls L.

Stem Cell Res. 2018 Jul;30:171-174. doi: 10.1016/j.scr.2018.06.006. Epub 2018 Jun 11.

7.

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 Jun 20. doi: 10.1038/s41431-018-0206-3. [Epub ahead of print]

PMID:
29925855
8.

GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.

Hengel H, Keimer R, Deigendesch W, Rieß A, Marzouqa H, Zaidan J, Bauer P, Schöls L.

Clin Genet. 2018 Jun 7. doi: 10.1111/cge.13390. [Epub ahead of print]

PMID:
29882329
9.

To die or not to die SGK1-sensitive ORAI/STIM in cell survival.

Lang F, Pelzl L, Hauser S, Hermann A, Stournaras C, Schöls L.

Cell Calcium. 2018 May 3;74:29-34. doi: 10.1016/j.ceca.2018.05.001. [Epub ahead of print] Review.

PMID:
29807219
10.

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
11.

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.

12.

Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice.

Ilg W, Branscheidt M, Butala A, Celnik P, de Paola L, Horak FB, Schöls L, Teive HAG, Vogel AP, Zee DS, Timmann D.

Cerebellum. 2018 Apr 14. doi: 10.1007/s12311-018-0937-2. [Epub ahead of print] Review.

PMID:
29656311
13.

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.

Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S.

Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13.

PMID:
29553382
14.

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.

Newton T, Allison R, Edgar JR, Lumb JH, Rodger CE, Manna PT, Rizo T, Kohl Z, Nygren AOH, Arning L, Schüle R, Depienne C, Goldberg L, Frahm C, Stevanin G, Durr A, Schöls L, Winner B, Beetz C, Reid E.

Brain. 2018 May 1;141(5):1286-1299. doi: 10.1093/brain/awy034.

15.

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Schöls L, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL.

Neurology. 2018 Mar 6;90(10):464-471. doi: 10.1212/WNL.0000000000005055. Epub 2018 Feb 9.

PMID:
29440566
16.

Case series: Slowing alpha rhythm in late-stage ALS patients.

Hohmann MR, Fomina T, Jayaram V, Emde T, Just J, Synofzik M, Schölkopf B, Schöls L, Grosse-Wentrup M.

Clin Neurophysiol. 2017 Nov 26;129(2):406-408. doi: 10.1016/j.clinph.2017.11.013. [Epub ahead of print]

PMID:
29291492
17.

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

Burguez D, Polese-Bonatto M, Scudeiro LAJ, Björkhem I, Schöls L, Jardim LB, Matte U, Saraiva-Pereira ML, Siebert M, Saute JAM.

J Neurol Sci. 2017 Dec 15;383:18-25. doi: 10.1016/j.jns.2017.10.010. Epub 2017 Oct 10.

PMID:
29246610
18.

Neurons, Erythrocytes and Beyond -The Diverse Functions of Chorein.

Lang F, Pelzl L, Schöls L, Hermann A, Föller M, Schäffer TE, Stournaras C.

Neurosignals. 2017;25(1):117-126. doi: 10.1159/000485457. Epub 2017 Nov 28.

19.

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.

PMID:
29126212
20.

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Böhringer J, Langhans CD, Vaz FM, Wortmann SB, Marquardt T, Haack TB, Krägeloh-Mann I, Schöls L, Synofzik M.

J Med Genet. 2018 Jan;55(1):39-47. doi: 10.1136/jmedgenet-2017-104622. Epub 2017 Sep 15.

PMID:
28916646
21.

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S.

J Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217. Epub 2017 Nov 7.

PMID:
28902413
22.

Treatable inherited rare movement disorders.

Jinnah HA, Albanese A, Bhatia KP, Cardoso F, Da Prat G, de Koning TJ, Espay AJ, Fung V, Garcia-Ruiz PJ, Gershanik O, Jankovic J, Kaji R, Kotschet K, Marras C, Miyasaki JM, Morgante F, Munchau A, Pal PK, Rodriguez Oroz MC, Rodríguez-Violante M, Schöls L, Stamelou M, Tijssen M, Uribe Roca C, de la Cerda A, Gatto EM; International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders.

Mov Disord. 2018 Jan;33(1):21-35. doi: 10.1002/mds.27140. Epub 2017 Sep 1. Review.

PMID:
28861905
23.

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
24.

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.

Röeben B, Marquetand J, Bender B, Billing H, Haack TB, Sanchez-Albisua I, Schöls L, Blom HJ, Synofzik M.

Orphanet J Rare Dis. 2017 Aug 1;12(1):135. doi: 10.1186/s13023-017-0687-0.

25.

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.

Böhringer J, Santer R, Schumacher N, Gieseke F, Cornils K, Pechan M, Kustermann-Kuhn B, Handgretinger R, Schöls L, Harzer K, Krägeloh-Mann I, Müller I.

Hum Mutat. 2017 Nov;38(11):1511-1520. doi: 10.1002/humu.23306. Epub 2017 Sep 6.

PMID:
28762252
26.

Lithium Sensitive ORAI1 Expression, Store Operated Ca2+ Entry and Suicidal Death of Neurons in Chorea-Acanthocytosis.

Pelzl L, Hauser S, Elsir B, Sukkar B, Sahu I, Singh Y, Höflinger P, Bissinger R, Jemaà M, Stournaras C, Schöls L, Lang F.

Sci Rep. 2017 Jul 25;7(1):6457. doi: 10.1038/s41598-017-06451-1.

27.

Absence of EEG correlates of self-referential processing depth in ALS.

Fomina T, Weichwald S, Synofzik M, Just J, Schöls L, Schölkopf B, Grosse-Wentrup M.

PLoS One. 2017 Jun 29;12(6):e0180136. doi: 10.1371/journal.pone.0180136. eCollection 2017.

28.

Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A).

Vogel AP, Rommel N, Oettinger A, Horger M, Krumm P, Kraus EM, Schöls L, Synofzik M.

Mitochondrion. 2017 Nov;37:1-7. doi: 10.1016/j.mito.2017.06.002. Epub 2017 Jun 19.

PMID:
28634151
29.

[Ataxias and hereditary spastic paraplegias].

Schüle R, Schöls L.

Nervenarzt. 2017 Jul;88(7):720-727. doi: 10.1007/s00115-017-0357-4. Review. German.

PMID:
28600743
30.

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.

Bis DM, Schüle R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Schöls L, Züchner S.

Mol Genet Genomic Med. 2017 Apr 5;5(3):280-286. doi: 10.1002/mgg3.285. eCollection 2017 May.

31.

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.

PMID:
28459997
32.

Involvement of the cerebellum in Parkinson disease and dementia with Lewy bodies.

Seidel K, Bouzrou M, Heidemann N, Krüger R, Schöls L, den Dunnen WFA, Korf HW, Rüb U.

Ann Neurol. 2017 Jun;81(6):898-903. doi: 10.1002/ana.24937. Epub 2017 Jun 2.

PMID:
28439961
33.

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

Hengel H, Magee A, Mahanjah M, Vallat JM, Ouvrier R, Abu-Rashid M, Mahamid J, Schüle R, Schulze M, Krägeloh-Mann I, Bauer P, Züchner S, Sharkia R, Schöls L.

Neurol Genet. 2017 Mar 22;3(2):e144. doi: 10.1212/NXG.0000000000000144. eCollection 2017 Apr.

34.

Individualized exergame training improves postural control in advanced degenerative spinocerebellar ataxia: A rater-blinded, intra-individually controlled trial.

Schatton C, Synofzik M, Fleszar Z, Giese MA, Schöls L, Ilg W.

Parkinsonism Relat Disord. 2017 Jun;39:80-84. doi: 10.1016/j.parkreldis.2017.03.016. Epub 2017 Mar 28.

PMID:
28365204
35.

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
36.

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Hayer SN, Deconinck T, Bender B, Smets K, Züchner S, Reich S, Schöls L, Schüle R, De Jonghe P, Baets J, Synofzik M.

Orphanet J Rare Dis. 2017 Feb 13;12(1):31. doi: 10.1186/s13023-017-0580-x.

37.

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, van Veen S, Samuel J, Schöls L, Pöppel T, Mollerup Sørensen D, Asselbergh B, Klein C, Zuchner S, Jordanova A, Vangheluwe P, Tournev I, Schüle R.

Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307.

38.

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.

39.

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S.

Hum Mutat. 2017 Mar;38(3):297-309. doi: 10.1002/humu.23161. Epub 2017 Jan 19.

40.

Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration.

Miske R, Gross CC, Scharf M, Golombeck KS, Hartwig M, Bhatia U, Schulte-Mecklenbeck A, Bönte K, Strippel C, Schöls L, Synofzik M, Lohmann H, Dettmann IM, Deppe M, Mindorf S, Warnecke T, Denno Y, Teegen B, Probst C, Brakopp S, Wandinger KP, Wiendl H, Stöcker W, Meuth SG, Komorowski L, Melzer N.

Neurol Neuroimmunol Neuroinflamm. 2016 Dec 5;4(1):e307. eCollection 2017 Jan.

41.

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).

Hauser S, Höflinger P, Theurer Y, Rattay TW, Schöls L.

Stem Cell Res. 2016 Sep;17(2):437-440. doi: 10.1016/j.scr.2016.09.011. Epub 2016 Sep 18.

42.

Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation.

Höflinger P, Hauser S, Theurer Y, Weißenberger S, Wilke C, Schöls L.

Stem Cell Res. 2016 Sep;17(2):433-436. doi: 10.1016/j.scr.2016.09.010. Epub 2016 Sep 17.

43.

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).

Hauser S, Schuster S, Theurer Y, Synofzik M, Schöls L.

Stem Cell Res. 2016 Sep;17(2):426-429. doi: 10.1016/j.scr.2016.09.012. Epub 2016 Sep 17.

44.

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5).

Höflinger P, Theurer Y, Schüle R, Schöls L, Hauser S.

Stem Cell Res. 2016 Sep;17(2):422-425. doi: 10.1016/j.scr.2016.09.013. Epub 2016 Sep 17.

45.

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.

Bonifert T, Gonzalez Menendez I, Battke F, Theurer Y, Synofzik M, Schöls L, Wissinger B.

Mol Ther Nucleic Acids. 2016 Nov 22;5(11):e390. doi: 10.1038/mtna.2016.93.

46.

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
47.

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

Krüger S, Battke F, Sprecher A, Munz M, Synofzik M, Schöls L, Gasser T, Grehl T, Prudlo J, Biskup S.

Front Mol Neurosci. 2016 Oct 13;9:92. eCollection 2016.

48.

Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient.

Hauser S, Erzler M, Theurer Y, Schuster S, Schüle R, Schöls L.

Stem Cell Res. 2016 Nov;17(3):485-488. doi: 10.1016/j.scr.2016.09.022. Epub 2016 Sep 26.

49.

Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity.

Ilg W, Fleszar Z, Schatton C, Hengel H, Harmuth F, Bauer P, Timmann D, Giese M, Schöls L, Synofzik M.

Mov Disord. 2016 Dec;31(12):1891-1900. doi: 10.1002/mds.26835. Epub 2016 Oct 26.

PMID:
27782309
50.

Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: New Clues in Sporadic Cases.

Schöls L.

JAMA Neurol. 2016 Dec 1;73(12):1400-1401. doi: 10.1001/jamaneurol.2016.2940. No abstract available.

PMID:
27749958

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