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Items: 1 to 50 of 325

1.

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 Feb 9. pii: 10.1212/WNL.0000000000005055. doi: 10.1212/WNL.0000000000005055. [Epub ahead of print]

PMID:
29440566
2.

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
3.

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
4.

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.

5.

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
6.

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
7.

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
8.

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
9.

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
10.

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.

11.

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
12.

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.

13.

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.

14.

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
15.

[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
16.

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.

17.

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
18.

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
19.

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.

20.

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
21.

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
22.

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.

23.

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.

24.

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.

25.

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.

26.

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.

27.

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.

28.

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.

29.

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.

30.

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.

31.

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.

32.

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
33.

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.

34.

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.

35.

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
36.

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
37.

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

Hirst J, Madeo M, Smets K, Edgar JR, Schols L, Li J, Yarrow A, Deconinck T, Baets J, Van Aken E, De Bleecker J, Datiles MB 3rd, Roda RH, Liepert J, Züchner S, Mariotti C, De Jonghe P, Blackstone C, Kruer MC.

Neurol Genet. 2016 Aug 25;2(5):e98. doi: 10.1212/NXG.0000000000000098. eCollection 2016 Oct. Erratum in: Neurol Genet. 2016 Oct 06;2(5):e111.

38.

A cognitive brain-computer interface for patients with amyotrophic lateral sclerosis.

Hohmann MR, Fomina T, Jayaram V, Widmann N, Förster C, Just J, Synofzik M, Schölkopf B, Schöls L, Grosse-Wentrup M.

Prog Brain Res. 2016;228:221-39. doi: 10.1016/bs.pbr.2016.04.022. Epub 2016 Jun 10.

PMID:
27590971
39.

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR.

Ann Neurol. 2016 Oct;80(4). doi: 10.1002/ana.24762. Epub 2016 Sep 9.

40.

Thickening of the peripheral nerves in metachromatic leukodystrophy.

Grimm A, Schäffer E, Just J, Schöls L, Kehrer C, Bevot A, Ziemann U, Krageloh-Mann I.

J Neurol Sci. 2016 Sep 15;368:399-401. doi: 10.1016/j.jns.2016.07.030. Epub 2016 Jul 14. No abstract available.

PMID:
27538671
41.

Inducing Differentiation of Premalignant Hepatic Cells as a Novel Therapeutic Strategy in Hepatocarcinoma.

Wolf B, Krieg K, Falk C, Breuhahn K, Keppeler H, Biedermann T, Schmid E, Warmann S, Fuchs J, Vetter S, Thiele D, Nieser M, Avci-Adali M, Skokowa Y, Schöls L, Hauser S, Ringelhan M, Yevsa T, Heikenwalder M, Kossatz-Boehlert U.

Cancer Res. 2016 Sep 15;76(18):5550-61. doi: 10.1158/0008-5472.CAN-15-3453. Epub 2016 Aug 3.

42.

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.

43.

Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools.

Synofzik M, Fleszar Z, Schöls L, Just J, Bauer P, Torres Martin JV, Kolb S.

J Neurol. 2016 Oct;263(10):1911-8. doi: 10.1007/s00415-016-8178-0. Epub 2016 Jun 17.

44.

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.

Kariminejad A, Schöls L, Schüle R, Tonekaboni SH, Abolhassani A, Fadaee M, Rosti RO, Gleeson JG.

Eur J Paediatr Neurol. 2016 Sep;20(5):782-7. doi: 10.1016/j.ejpn.2016.05.013. Epub 2016 Jun 2.

45.

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

Mademan I, Harmuth F, Giordano I, Timmann D, Magri S, Deconinck T, Claaßen J, Jokisch D, Genc G, Di Bella D, Romito S, Schüle R, Züchner S, Taroni F, Klockgether T, Schöls L, De Jonghe P, Bauer P, Consortium E, Baets J, Synofzik M.

Brain. 2016 Aug;139(Pt 8):e46. doi: 10.1093/brain/aww115. Epub 2016 May 19. No abstract available.

46.

Reply.

Schüle R, Wiethoff S, Schöls L.

Ann Neurol. 2016 Jul;80(1):170-1. doi: 10.1002/ana.24670. Epub 2016 May 10. No abstract available.

PMID:
27121776
47.

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P.

Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17.

PMID:
27086870
48.

Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report.

Sharkia R, Hengel H, Schöls L, Athamna M, Bauer P, Mahajnah M.

J Med Case Rep. 2016 Mar 29;10:67. doi: 10.1186/s13256-016-0854-2. Review.

49.

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.

Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T.

J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19.

PMID:
26995359
50.

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.

Schüle R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmüller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Züchner S, Liepelt-Scarfone I, Schöls L.

Ann Neurol. 2016 Apr;79(4):646-58. doi: 10.1002/ana.24611. Epub 2016 Mar 11.

PMID:
26856398

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