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Best matches for Schöls L[au]:

Treatable inherited rare movement disorders. Jinnah HA et al. Mov Disord. (2018)

Reply. Schüle R et al. Ann Neurol. (2016)

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Minnerop M et al. Brain. (2017)

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Items: 1 to 50 of 367

1.

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 Aug 22. doi: 10.1007/s12311-019-01073-x. [Epub ahead of print]

PMID:
31441004
2.

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.

Cousyn L, Law-Ye B, Pyatigorskaya N, Debs R, Froissart R, Piraud M, Federico A, Salvatore S, Cerase A, Macário MC, Durães J, Kim SH, Adachi H, Audoin B, Ayrignac X, Da Y, Henderson R, La Piana R, Laule C, Nakamagoe K, Raininko R, Schols L, Sirrs SM, Viader F, Jastrzębski K, Leclercq D, Nadjar Y.

Neurology. 2019 Aug 13;93(7):e647-e652. doi: 10.1212/WNL.0000000000007943. Epub 2019 Jul 23.

PMID:
31337714
3.

Multiparametric rapid screening of neuronal process pathology for drug target identification in HSP patient-specific neurons.

Rehbach K, Kesavan J, Hauser S, Ritzenhofen S, Jungverdorben J, Schüle R, Schöls L, Peitz M, Brüstle O.

Sci Rep. 2019 Jul 3;9(1):9615. doi: 10.1038/s41598-019-45246-4.

4.

[Model for personalized diagnostics and treatment in neurology-German Academy for Rare Neurological Diseases].

Münchau A, Schöls L, Klein C, Graessner H.

Nervenarzt. 2019 Aug;90(8):796-803. doi: 10.1007/s00115-019-0750-2. Review. German.

PMID:
31243508
5.

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.

Diallo A, Jacobi H, Cook A, Giunti P, Parkinson MH, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Castaldo A, Rakowicz M, Rola R, Sulek 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, Boesch S, Nachbauer W, Pandolfo M, Schulz JB, Bauer P, Jun-Suk K, Klockgether T, Tezenas du Montcel S.

Mov Disord. 2019 Aug;34(8):1220-1227. doi: 10.1002/mds.27739. Epub 2019 Jun 18.

PMID:
31211461
6.

Phenotypic variation between siblings with Metachromatic Leukodystrophy.

Elgün S, Waibel J, Kehrer C, van Rappard D, Böhringer J, Beck-Wödl S, Just J, Schöls L, Wolf N, Krägeloh-Mann I, Groeschel S.

Orphanet J Rare Dis. 2019 Jun 11;14(1):136. doi: 10.1186/s13023-019-1113-6.

7.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R.

Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.

PMID:
31135052
8.

A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.

Sharkia R, Zalan A, Jabareen-Masri A, Hengel H, Schöls L, Kessel A, Azem A, Mahajnah M.

Am J Med Genet A. 2019 Jul;179(7):1338-1345. doi: 10.1002/ajmg.a.61168. Epub 2019 May 18.

PMID:
31102500
9.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA.

Genet Med. 2019 May 16. doi: 10.1038/s41436-019-0532-z. [Epub ahead of print]

PMID:
31092906
10.

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
11.

Patient-reported outcomes in Friedreich's ataxia after withdrawal from idebenone.

Cook A, Boesch S, Heck S, Brunt E, Klockgether T, Schöls L, Schulz A, Giunti P.

Acta Neurol Scand. 2019 Jun;139(6):533-539. doi: 10.1111/ane.13088. Epub 2019 Apr 8.

PMID:
30887496
12.

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.

13.

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
14.

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.

PMID:
30790538
15.

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
16.

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.

Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, Carrozzo R, Torraco A, Goffrini P, Ceccatelli Berti C, McCormick ME, Plecko B, Klein A, Abela L, Hengel H, Schöls L, Shalev S, Khayat M, Mahajnah M, Spiegel R.

J Inherit Metab Dis. 2019 Mar;42(2):264-275. doi: 10.1002/jimd.12022. Epub 2019 Jan 28.

PMID:
30689204
17.

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

Kuehlewein L, Schöls L, Llavona P, Grimm A, Biskup S, Zrenner E, Kohl S.

Graefes Arch Clin Exp Ophthalmol. 2019 Mar;257(3):629-638. doi: 10.1007/s00417-018-04233-7. Epub 2019 Jan 17.

PMID:
30656474
18.

Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus.

Schuster S, Saravanakumar S, Schöls L, Hauser S.

Stem Cell Res. 2019 Jan;34:101378. doi: 10.1016/j.scr.2018.101378. Epub 2018 Dec 21.

19.

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
20.

A previously identified missense mutation in STYXL1 is likely benign.

Hengel H, Schelling Y, Keimer R, Deigendesch W, Bauer P, Schöls L.

Eur J Med Genet. 2018 Nov 22. pii: S1769-7212(18)30680-3. doi: 10.1016/j.ejmg.2018.11.016. [Epub ahead of print]

PMID:
30472486
21.

Inhibition of Lithium Sensitive Orai1/ STIM1 Expression and Store Operated Ca2+ Entry in Chorea-Acanthocytosis Neurons by NF-κB Inhibitor Wogonin.

Sukkar B, Hauser S, Pelzl L, Hosseinzadeh Z, Sahu I, Al-Maghout T, Bhuyan AAM, Zacharopoulou N, Stournaras C, Schöls L, Lang F.

Cell Physiol Biochem. 2018;51(1):278-289. doi: 10.1159/000495229. Epub 2018 Nov 19.

22.

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.

23.

Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3.

Harmuth T, Prell-Schicker C, Weber JJ, Gellerich F, Funke C, Drießen S, Magg JCD, Krebiehl G, Wolburg H, Hayer SN, Hauser S, Krüger R, Schöls L, Riess O, Hübener-Schmid J.

Front Mol Neurosci. 2018 Oct 10;11:368. doi: 10.3389/fnmol.2018.00368. eCollection 2018.

24.

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
25.

NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Hayer SN, Krey I, Barro C, Rössler F, Körtvelyessy P, Lemke JR, Kuhle J, Schöls L.

Neurology. 2018 Oct 16;91(16):755-757. doi: 10.1212/WNL.0000000000006357. Epub 2018 Sep 14. No abstract available.

PMID:
30217938
26.

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
27.

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.

28.

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.

29.

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
30.

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 Sep;265(9):2040-2051. doi: 10.1007/s00415-018-8954-0. Epub 2018 Jun 29.

PMID:
29959555
31.

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
32.

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.

33.

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.

PMID:
29925855
34.

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 Oct;94(3-4):356-361. doi: 10.1111/cge.13390. Epub 2018 Jul 10.

PMID:
29882329
35.

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 Sep;74:29-34. doi: 10.1016/j.ceca.2018.05.001. Epub 2018 May 3. Review.

PMID:
29807219
36.

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
37.

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.

38.

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 Oct;17(5):628-653. doi: 10.1007/s12311-018-0937-2. Review.

PMID:
29656311
39.

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
40.

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.

41.

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.

42.

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. 2018 Feb;129(2):406-408. doi: 10.1016/j.clinph.2017.11.013. Epub 2017 Nov 26.

PMID:
29291492
43.

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
44.

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. Review.

45.

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.

46.

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
47.

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.

48.

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.

49.

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
50.

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.

Diallo A, Jacobi H, Schmitz-Hübsch T, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, 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, Baliko L, Parkinson MH, Kang JS, Klockgether T, Tezenas du Montcel S.

Mov Disord Clin Pract. 2017 Aug 11;4(5):689-697. doi: 10.1002/mdc3.12522. eCollection 2017 Sep-Oct.

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