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Items: 1 to 50 of 233

1.

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.

2.

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
3.

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
4.

KMT9 monomethylates histone H4 lysine 12 and controls proliferation of prostate cancer cells.

Metzger E, Wang S, Urban S, Willmann D, Schmidt A, Offermann A, Allen A, Sum M, Obier N, Cottard F, Ulferts S, Preca BT, Hermann B, Maurer J, Greschik H, Hornung V, Einsle O, Perner S, Imhof A, Jung M, Schüle R.

Nat Struct Mol Biol. 2019 May;26(5):361-371. doi: 10.1038/s41594-019-0219-9. Epub 2019 May 6.

PMID:
31061526
5.

Tenets of Quality Management Systems Are Needed in Sterile Processing.

Sheffer J, Fish J, Hendee S, Hildebrand E, Klacik SG, Schule R.

Biomed Instrum Technol. 2019 Jun;53(s2):9-15. doi: 10.2345/0899-8205-53.s2.9. No abstract available.

PMID:
31013124
6.

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.

PMID:
30929741
7.

Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Minnerop M, Kurzwelly D, Wagner H, Schüle R, Ramirez A.

Brain. 2019 Apr 1;142(4):e13. doi: 10.1093/brain/awz042. No abstract available.

PMID:
30847463
8.

Correction: LSD1 inhibition by tranylcypromine derivatives interferes with GFI1-mediated repression of PU.1 target genes and induces differentiation in AML.

Barth J, Abou-El-Ardat K, Dalic D, Kurrle N, Maier AM, Mohr S, Schütte J, Vassen L, Greve G, Schulz-Fincke J, Schmitt M, Tosic M, Metzger E, Bug G, Khandanpour C, Wagner SA, Lübbert M, Jung M, Serve H, Schüle R, Berg T.

Leukemia. 2019 Jun;33(6):1541. doi: 10.1038/s41375-019-0415-y.

PMID:
30837671
9.

LSD1 inhibition by tranylcypromine derivatives interferes with GFI1-mediated repression of PU.1 target genes and induces differentiation in AML.

Barth J, Abou-El-Ardat K, Dalic D, Kurrle N, Maier AM, Mohr S, Schütte J, Vassen L, Greve G, Schulz-Fincke J, Schmitt M, Tosic M, Metzger E, Bug G, Khandanpour C, Wagner SA, Lübbert M, Jung M, Serve H, Schüle R, Berg T.

Leukemia. 2019 Jun;33(6):1411-1426. doi: 10.1038/s41375-018-0375-7. Epub 2019 Jan 24. Erratum in: Leukemia. 2019 Mar 5;:.

PMID:
30679800
10.

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.

Nagel M, Reichbauer J, Böhringer J, Schelling Y, Krägeloh-Mann I, Schüle R, Ulmer U.

Stem Cell Res. 2019 Mar;35:101336. doi: 10.1016/j.scr.2018.10.021. Epub 2018 Nov 18.

11.

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.

12.

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP.

Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198.

PMID:
30084953
13.

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.

14.

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
15.

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report.

Pottier C, Rampersaud E, Baker M, Wu G, Wuu J, McCauley JL, Zuchner S, Schule R, Bermudez C, Hussain S, Cooley A, Wallace M, Zhang J, Taylor JP, Benatar M, Rademakers R.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):469-471. doi: 10.1080/21678421.2018.1452947. Epub 2018 Mar 20.

PMID:
29558868
16.

The histone acetyltransferase inhibitor Nir regulates epidermis development.

Duteil D, Tourrette Y, Eberlin A, Willmann D, Patel D, Friedrichs N, Müller JM, Schüle R.

Development. 2018 Mar 21;145(6). pii: dev158543. doi: 10.1242/dev.158543.

17.

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.

18.

Lsd1 regulates skeletal muscle regeneration and directs the fate of satellite cells.

Tosic M, Allen A, Willmann D, Lepper C, Kim J, Duteil D, Schüle R.

Nat Commun. 2018 Jan 25;9(1):366. doi: 10.1038/s41467-017-02740-5.

19.

Inflammatory Pathways Regulated by Tumor Necrosis Receptor-Associated Factor 1 Protect From Metabolic Consequences in Diet-Induced Obesity.

Anto Michel N, Colberg C, Buscher K, Sommer B, Pramod AB, Ehinger E, Dufner B, Hoppe N, Pfeiffer K, Marchini T, Willecke F, Stachon P, Hilgendorf I, Heidt T, von Zur Muhlen C, von Elverfeldt D, Pfeifer D, Schüle R, Kintscher U, Brachs S, Ley K, Bode C, Zirlik A, Wolf D.

Circ Res. 2018 Mar 2;122(5):693-700. doi: 10.1161/CIRCRESAHA.117.312055. Epub 2018 Jan 22.

20.

Structure-activity studies on N-Substituted tranylcypromine derivatives lead to selective inhibitors of lysine specific demethylase 1 (LSD1) and potent inducers of leukemic cell differentiation.

Schulz-Fincke J, Hau M, Barth J, Robaa D, Willmann D, Kürner A, Haas J, Greve G, Haydn T, Fulda S, Lübbert M, Lüdeke S, Berg T, Sippl W, Schüle R, Jung M.

Eur J Med Chem. 2018 Jan 20;144:52-67. doi: 10.1016/j.ejmech.2017.12.001. Epub 2017 Dec 6.

PMID:
29247860
21.

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.

Minnerop M, Kurzwelly D, Rattay TW, Timmann D, Hengel H, Synofzik M, Stendel C, Horvath R, Schüle R, Ramirez A.

Brain. 2018 Jan 1;141(1):e2. doi: 10.1093/brain/awx291. No abstract available.

22.

RORβ Spinal Interneurons Gate Sensory Transmission during Locomotion to Secure a Fluid Walking Gait.

Koch SC, Del Barrio MG, Dalet A, Gatto G, Günther T, Zhang J, Seidler B, Saur D, Schüle R, Goulding M.

Neuron. 2017 Dec 20;96(6):1419-1431.e5. doi: 10.1016/j.neuron.2017.11.011. Epub 2017 Dec 7.

23.

The histone code reader Spin1 controls skeletal muscle development.

Greschik H, Duteil D, Messaddeq N, Willmann D, Arrigoni L, Sum M, Jung M, Metzger D, Manke T, Günther T, Schüle R.

Cell Death Dis. 2017 Nov 23;8(11):e3173. doi: 10.1038/cddis.2017.468.

24.

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Wilke C, Baets J, De Bleecker JL, Deconinck T, Biskup S, Hayer SN, Züchner S, Schüle R, De Jonghe P, Synofzik M.

Neurobiol Aging. 2018 Feb;62:244.e9-244.e13. doi: 10.1016/j.neurobiolaging.2017.10.010. Epub 2017 Oct 24.

PMID:
29137817
25.

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.

26.

Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

Schüle R.

Brain. 2017 Dec 1;140(12):e74. doi: 10.1093/brain/awx282. No abstract available.

27.

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
28.

KDM4 Inhibition Targets Breast Cancer Stem-like Cells.

Metzger E, Stepputtis SS, Strietz J, Preca BT, Urban S, Willmann D, Allen A, Zenk F, Iovino N, Bronsert P, Proske A, Follo M, Boerries M, Stickeler E, Xu J, Wallace MB, Stafford JA, Kanouni T, Maurer J, Schüle R.

Cancer Res. 2017 Nov 1;77(21):5900-5912. doi: 10.1158/0008-5472.CAN-17-1754. Epub 2017 Sep 7.

29.

Lsd1, a metabolic sensor of environment requirements that prevents adipose tissue from aging.

Duteil D, Tosic M, Schüle R.

Adipocyte. 2017 Oct 2;6(4):298-303. doi: 10.1080/21623945.2017.1345831. Epub 2017 Jul 12. Review.

30.

[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
31.

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.

32.

Lsd1 prevents age-programed loss of beige adipocytes.

Duteil D, Tosic M, Willmann D, Georgiadi A, Kanouni T, Schüle R.

Proc Natl Acad Sci U S A. 2017 May 16;114(20):5265-5270. doi: 10.1073/pnas.1702641114. Epub 2017 May 1.

33.

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;:.

34.

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.

35.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.

Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E.

Clin Genet. 2017 Nov;92(5):534-539. doi: 10.1111/cge.13008. Epub 2017 Apr 19.

36.

Selective targeting of epigenetic reader domains.

Greschik H, Schüle R, Günther T.

Expert Opin Drug Discov. 2017 May;12(5):449-463. doi: 10.1080/17460441.2017.1303474. Epub 2017 Mar 14. Review.

PMID:
28277835
37.

Inactivation of Lsd1 triggers senescence in trophoblast stem cells by induction of Sirt4.

Castex J, Willmann D, Kanouni T, Arrigoni L, Li Y, Friedrich M, Schleicher M, Wöhrle S, Pearson M, Kraut N, Méret M, Manke T, Metzger E, Schüle R, Günther T.

Cell Death Dis. 2017 Feb 23;8(2):e2631. doi: 10.1038/cddis.2017.48.

38.

LSD1 Controls Timely MyoD Expression via MyoD Core Enhancer Transcription.

Scionti I, Hayashi S, Mouradian S, Girard E, Esteves de Lima J, Morel V, Simonet T, Wurmser M, Maire P, Ancelin K, Metzger E, Schüle R, Goillot E, Relaix F, Schaeffer L.

Cell Rep. 2017 Feb 21;18(8):1996-2006. doi: 10.1016/j.celrep.2017.01.078.

39.

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.

Synofzik M, Schüle R.

Mov Disord. 2017 Mar;32(3):332-345. doi: 10.1002/mds.26944. Epub 2017 Feb 14. Review.

40.

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.

41.

Prenatal thalamic waves regulate cortical area size prior to sensory processing.

Moreno-Juan V, Filipchuk A, Antón-Bolaños N, Mezzera C, Gezelius H, Andrés B, Rodríguez-Malmierca L, Susín R, Schaad O, Iwasato T, Schüle R, Rutlin M, Nelson S, Ducret S, Valdeolmillos M, Rijli FM, López-Bendito G.

Nat Commun. 2017 Feb 3;8:14172. doi: 10.1038/ncomms14172.

42.

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.

43.

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.

44.

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.

45.

Extrapulmonary Aspergillus infection in patients with CARD9 deficiency.

Rieber N, Gazendam RP, Freeman AF, Hsu AP, Collar AL, Sugui JA, Drummond RA, Rongkavilit C, Hoffman K, Henderson C, Clark L, Mezger M, Swamydas M, Engeholm M, Schüle R, Neumayer B, Ebel F, Mikelis CM, Pittaluga S, Prasad VK, Singh A, Milner JD, Williams KW, Lim JK, Kwon-Chung KJ, Holland SM, Hartl D, Kuijpers TW, Lionakis MS.

JCI Insight. 2016 Oct 20;1(17):e89890. doi: 10.1172/jci.insight.89890.

46.

Overexpression of histone demethylase Fbxl10 leads to enhanced migration in mouse embryonic fibroblasts.

Rohde M, Sievers E, Janzer A, Willmann D, Egert A, Schorle H, Schüle R, Kirfel J.

Exp Cell Res. 2016 Nov 1;348(2):123-131. doi: 10.1016/j.yexcr.2016.08.026. Epub 2016 Sep 17.

PMID:
27646113
47.

Lsd1 Ablation Triggers Metabolic Reprogramming of Brown Adipose Tissue.

Duteil D, Tosic M, Lausecker F, Nenseth HZ, Müller JM, Urban S, Willmann D, Petroll K, Messaddeq N, Arrigoni L, Manke T, Kornfeld JW, Brüning JC, Zagoriy V, Meret M, Dengjel J, Kanouni T, Schüle R.

Cell Rep. 2016 Oct 18;17(4):1008-1021. doi: 10.1016/j.celrep.2016.09.053.

48.

Identification and Structure-Activity Relationship Studies of Small-Molecule Inhibitors of the Methyllysine Reader Protein Spindlin1.

Robaa D, Wagner T, Luise C, Carlino L, McMillan J, Flaig R, Schüle R, Jung M, Sippl W.

ChemMedChem. 2016 Oct 19;11(20):2327-2338. doi: 10.1002/cmdc.201600362. Epub 2016 Sep 16.

PMID:
27634332
49.

Tofacitinib and analogs as inhibitors of the histone kinase PRK1 (PKN1).

Ostrovskyi D, Rumpf T, Eib J, Lumbroso A, Slynko I, Klaeger S, Heinzlmeir S, Forster M, Gehringer M, Pfaffenrot E, Bauer SM, Schmidtkunz K, Wenzler S, Metzger E, Kuster B, Laufer S, Schüle R, Sippl W, Breit B, Jung M.

Future Med Chem. 2016 Sep;8(13):1537-51. doi: 10.4155/fmc-2016-0132. Epub 2016 Aug 30.

PMID:
27572962
50.

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.

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