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Items: 1 to 50 of 150

1.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group , Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H.

Brain. 2019 Sep 9. pii: awz248. doi: 10.1093/brain/awz248. [Epub ahead of print]

PMID:
31501903
2.

Hybrid genome assembly and annotation of Danionella translucida.

Kadobianskyi M, Schulze L, Schuelke M, Judkewitz B.

Sci Data. 2019 Aug 26;6(1):156. doi: 10.1038/s41597-019-0161-z.

3.

Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease.

Nikolaus M, Tietze A, Schweizer L, Kaindl AM, Stenzel W, Schuelke M, Knierim E.

Brain Dev. 2019 Jul 22. pii: S0387-7604(19)30166-4. doi: 10.1016/j.braindev.2019.07.002. [Epub ahead of print]

PMID:
31345444
4.

Diverse immunotherapies can effectively treat syngeneic brainstem tumors in the absence of overt toxicity.

Schuelke MR, Wongthida P, Thompson J, Kottke T, Driscoll CB, Huff AL, Shim KG, Coffey M, Pulido J, Evgin L, Vile RG.

J Immunother Cancer. 2019 Jul 17;7(1):188. doi: 10.1186/s40425-019-0673-2.

5.

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Schwarz JM, Hombach D, Köhler S, Cooper DN, Schuelke M, Seelow D.

Nucleic Acids Res. 2019 Jul 2;47(W1):W106-W113. doi: 10.1093/nar/gkz327.

6.

MutationDistiller: user-driven identification of pathogenic DNA variants.

Hombach D, Schuelke M, Knierim E, Ehmke N, Schwarz JM, Fischer-Zirnsak B, Seelow D.

Nucleic Acids Res. 2019 Jul 2;47(W1):W114-W120. doi: 10.1093/nar/gkz330.

7.

Suboptimal T-cell Therapy Drives a Tumor Cell Mutator Phenotype That Promotes Escape from First-Line Treatment.

Evgin L, Huff AL, Kottke T, Thompson J, Molan AM, Driscoll CB, Schuelke M, Shim KG, Wongthida P, Ilett EJ, Smith KK, Harris RS, Coffey M, Pulido JS, Pandha H, Selby PJ, Harrington KJ, Melcher A, Vile RG.

Cancer Immunol Res. 2019 May;7(5):828-840. doi: 10.1158/2326-6066.CIR-18-0013. Epub 2019 Apr 2.

PMID:
30940643
8.

Motor function in survivors of pediatric acute lymphoblastic leukemia treated with chemotherapy-only.

Goebel AM, Koustenis E, Rueckriegel SM, Pfuhlmann L, Brandsma R, Sival D, Skarabis H, Schuelke M, Hernáiz Driever P.

Eur J Paediatr Neurol. 2019 Mar;23(2):304-316. doi: 10.1016/j.ejpn.2018.12.005. Epub 2018 Dec 17.

PMID:
30611625
9.

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

Mueller N, Sassa T, Morales-Gonzalez S, Schneider J, Salchow DJ, Seelow D, Knierim E, Stenzel W, Kihara A, Schuelke M.

J Med Genet. 2019 Mar;56(3):164-175. doi: 10.1136/jmedgenet-2018-105711. Epub 2018 Nov 28.

PMID:
30487246
10.

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Radke J, Koll R, Gill E, Wiese L, Schulz A, Kohlschütter A, Schuelke M, Hagel C, Stenzel W, Goebel HH.

Ann Clin Transl Neurol. 2018 Oct 14;5(11):1385-1393. doi: 10.1002/acn3.662. eCollection 2018 Nov.

11.

Phenotero: Annotate as you write.

Hombach D, Schwarz JM, Knierim E, Schuelke M, Seelow D, Köhler S.

Clin Genet. 2019 Feb;95(2):287-292. doi: 10.1111/cge.13471. Epub 2018 Dec 7.

PMID:
30417324
12.

Publisher Correction: Transparent Danionella translucida as a genetically tractable vertebrate brain model.

Schulze L, Henninger J, Kadobianskyi M, Chaigne T, Faustino AI, Hakiy N, Albadri S, Schuelke M, Maler L, Del Bene F, Judkewitz B.

Nat Methods. 2018 Dec;15(12):1126. doi: 10.1038/s41592-018-0217-6.

PMID:
30397327
13.

Transparent Danionella translucida as a genetically tractable vertebrate brain model.

Schulze L, Henninger J, Kadobianskyi M, Chaigne T, Faustino AI, Hakiy N, Albadri S, Schuelke M, Maler L, Del Bene F, Judkewitz B.

Nat Methods. 2018 Nov;15(11):977-983. doi: 10.1038/s41592-018-0144-6. Epub 2018 Oct 15. Erratum in: Nat Methods. 2018 Dec;15(12):1126.

PMID:
30323353
14.

APOBEC3 Mediates Resistance to Oncolytic Viral Therapy.

Huff AL, Wongthida P, Kottke T, Thompson JM, Driscoll CB, Schuelke M, Shim KG, Harris RS, Molan A, Pulido JS, Selby PJ, Harrington KJ, Melcher A, Evgin L, Vile RG.

Mol Ther Oncolytics. 2018 Aug 29;11:1-13. doi: 10.1016/j.omto.2018.08.003. eCollection 2018 Dec 21.

15.

Cytoplasmic body myopathy revisited.

Schuelke M, Schwarz M, Stenzel W, Goebel HH.

Neuromuscul Disord. 2018 Nov;28(11):969-971. doi: 10.1016/j.nmd.2018.08.006. Epub 2018 Aug 30. No abstract available.

PMID:
30253894
16.

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.

17.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG.

Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.

18.

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

von Renesse A, Morales-Gonzalez S, Gill E, Salomons GS, Stenzel W, Schuelke M.

JIMD Rep. 2019;43:27-35. doi: 10.1007/8904_2018_93. Epub 2018 Apr 14.

19.

Adropin: An endocrine link between the biological clock and cholesterol homeostasis.

Ghoshal S, Stevens JR, Billon C, Girardet C, Sitaula S, Leon AS, Rao DC, Skinner JS, Rankinen T, Bouchard C, Nuñez MV, Stanhope KL, Howatt DA, Daugherty A, Zhang J, Schuelke M, Weiss EP, Coffey AR, Bennett BJ, Sethupathy P, Burris TP, Havel PJ, Butler AA.

Mol Metab. 2018 Feb;8:51-64. doi: 10.1016/j.molmet.2017.12.002. Epub 2017 Dec 30.

20.

Caveolin 1 Promotes Renal Water and Salt Reabsorption.

Willière Y, Borschewski A, Patzak A, Nikitina T, Dittmayer C, Daigeler AL, Schuelke M, Bachmann S, Mutig K.

Sci Rep. 2018 Jan 11;8(1):545. doi: 10.1038/s41598-017-19071-6.

21.

Morvan syndrome associated with CASPR2 and LGI1 antibodies in a child.

Nikolaus M, Jackowski-Dohrmann S, Prüss H, Schuelke M, Knierim E.

Neurology. 2018 Jan 23;90(4):183-185. doi: 10.1212/WNL.0000000000004861. Epub 2017 Dec 20. No abstract available.

PMID:
29263225
22.

Aicardi-Goutières syndrome with muscle involvement in early infancy.

Deigendesch N, Morales-Gonzalez S, Weschke B, Goebel HH, Schuelke M, Stenzel W.

Neuropathol Appl Neurobiol. 2018 Dec;44(7):737-742. doi: 10.1111/nan.12454. No abstract available.

PMID:
29210089
23.

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.

Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Jühlen R, Schuelke M, Mohnike K, Huebner A, Narumi S.

J Med Genet. 2018 Feb;55(2):81-85. doi: 10.1136/jmedgenet-2017-105020. Epub 2017 Nov 24.

PMID:
29175836
24.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.

Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016.

25.

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.

Zehavi Y, von Renesse A, Daniel-Spiegel E, Sapir Y, Zalman L, Chervinsky I, Schuelke M, Straussberg R, Spiegel R.

Metab Brain Dis. 2017 Dec;32(6):2131-2137. doi: 10.1007/s11011-017-0109-y. Epub 2017 Sep 13.

PMID:
28900819
26.

BMP signaling regulates satellite cell-dependent postnatal muscle growth.

Stantzou A, Schirwis E, Swist S, Alonso-Martin S, Polydorou I, Zarrouki F, Mouisel E, Beley C, Julien A, Le Grand F, Garcia L, Colnot C, Birchmeier C, Braun T, Schuelke M, Relaix F, Amthor H.

Development. 2017 Aug 1;144(15):2737-2747. doi: 10.1242/dev.144089. Epub 2017 Jul 10.

27.

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Schottmann G, Picker-Minh S, Schwarz JM, Gill E, Rodenburg RJT, Stenzel W, Kaindl AM, Schuelke M.

Mitochondrion. 2017 Nov;37:46-54. doi: 10.1016/j.mito.2017.06.007. Epub 2017 Jul 4.

PMID:
28687512
28.

Treatment of Gabapentin Toxicity With Peritoneal Dialysis: Assessment of Gabapentin Clearance.

Ibrahim H, Oman Z, Schuelke M, Edwards JC.

Am J Kidney Dis. 2017 Dec;70(6):878-880. doi: 10.1053/j.ajkd.2017.05.010. Epub 2017 Jul 1.

PMID:
28676198
29.

Synthesis, Chemical Characterization and Multiscale Biological Evaluation of a Dimeric-cRGD Peptide for Targeted Imaging of α V β 3 Integrin Activity.

Hedhli J, Czerwinski A, Schuelke M, Płoska A, Sowinski P, Hood L, Mamer SB, Cole JA, Czaplewska P, Banach M, Dobrucki IT, Kalinowski L, Imoukhuede P, Dobrucki LW.

Sci Rep. 2017 Jun 9;7(1):3185. doi: 10.1038/s41598-017-03224-8.

30.

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

Knierim E, Gill E, Seifert F, Morales-Gonzalez S, Unudurthi SD, Hund TJ, Stenzel W, Schuelke M.

Hum Genet. 2017 Jul;136(7):903-910. doi: 10.1007/s00439-017-1814-7. Epub 2017 May 24.

PMID:
28540413
31.

Inhibitory Receptors Induced by VSV Viroimmunotherapy Are Not Necessarily Targets for Improving Treatment Efficacy.

Shim KG, Zaidi S, Thompson J, Kottke T, Evgin L, Rajani KR, Schuelke M, Driscoll CB, Huff A, Pulido JS, Vile RG.

Mol Ther. 2017 Apr 5;25(4):962-975. doi: 10.1016/j.ymthe.2017.01.023. Epub 2017 Feb 22.

32.

Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders.

Lorenz C, Lesimple P, Bukowiecki R, Zink A, Inak G, Mlody B, Singh M, Semtner M, Mah N, Auré K, Leong M, Zabiegalov O, Lyras EM, Pfiffer V, Fauler B, Eichhorst J, Wiesner B, Huebner N, Priller J, Mielke T, Meierhofer D, Izsvák Z, Meier JC, Bouillaud F, Adjaye J, Schuelke M, Wanker EE, Lombès A, Prigione A.

Cell Stem Cell. 2017 May 4;20(5):659-674.e9. doi: 10.1016/j.stem.2016.12.013. Epub 2017 Jan 26.

33.

Myopathology in the times of modern genetics.

Schuelke M, Øien NC, Oldfors A.

Neuropathol Appl Neurobiol. 2017 Feb;43(1):44-61. doi: 10.1111/nan.12374. Review.

PMID:
28009443
34.

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.

Luna-Sánchez M, Hidalgo-Gutiérrez A, Hildebrandt TM, Chaves-Serrano J, Barriocanal-Casado E, Santos-Fandila Á, Romero M, Sayed RK, Duarte J, Prokisch H, Schuelke M, Distelmaier F, Escames G, Acuña-Castroviejo D, López LC.

EMBO Mol Med. 2017 Jan;9(1):78-95. doi: 10.15252/emmm.201606345.

35.

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

Ziosi M, Di Meo I, Kleiner G, Gao XH, Barca E, Sanchez-Quintero MJ, Tadesse S, Jiang H, Qiao C, Rodenburg RJ, Scalais E, Schuelke M, Willard B, Hatzoglou M, Tiranti V, Quinzii CM.

EMBO Mol Med. 2017 Jan;9(1):96-111. doi: 10.15252/emmm.201606356.

36.

Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).

Hu H, Hübner C, Lukacs Z, Musante L, Gill E, Wienker TF, Ropers HH, Knierim E, Schuelke M.

Eur J Hum Genet. 2017 Feb;25(2):253-256. doi: 10.1038/ejhg.2016.149. Epub 2016 Nov 9.

37.

MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.

Schottmann G, Wagner C, Seifert F, Stenzel W, Schuelke M.

Brain. 2016 Dec;139(Pt 12):e70. doi: 10.1093/brain/aww252. Epub 2016 Oct 29. No abstract available.

PMID:
27794525
38.

Ataxia with Vitamin E Deficiency.

Schuelke M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2005 May 20 [updated 2016 Oct 13].

39.

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

Koehler K, Milev MP, Prematilake K, Reschke F, Kutzner S, Jühlen R, Landgraf D, Utine E, Hazan F, Diniz G, Schuelke M, Huebner A, Sacher M.

J Med Genet. 2017 Mar;54(3):176-185. doi: 10.1136/jmedgenet-2016-104108. Epub 2016 Oct 5.

PMID:
27707803
40.

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.

Straussberg R, Schottmann G, Sadeh M, Gill E, Seifert F, Halevy A, Qassem K, Rendu J, van der Ven PF, Stenzel W, Schuelke M.

Acta Neuropathol. 2016 Sep;132(3):475-8. doi: 10.1007/s00401-016-1602-9. Epub 2016 Aug 2. No abstract available.

PMID:
27484770
41.

Erratum to: A systematic, large-scale comparison of transcription factor binding site models.

Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D.

BMC Genomics. 2016 Jul 20;17(1):502. No abstract available.

42.

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Schottmann G, Sarpong A, Lorenz C, Weinhold N, Gill E, Teschner L, Ferdinandusse S, Wanders RJ, Prigione A, Schuelke M.

Mov Disord. 2016 Nov;31(11):1733-1739. doi: 10.1002/mds.26704. Epub 2016 Jul 12.

PMID:
27400804
43.

Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression.

Petkova MV, Morales-Gonzales S, Relizani K, Gill E, Seifert F, Radke J, Stenzel W, Garcia L, Amthor H, Schuelke M.

Skelet Muscle. 2016 Jul 5;6:25. doi: 10.1186/s13395-016-0095-5. eCollection 2016.

44.

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Horn D, Weschke B, Knierim E, Fischer-Zirnsak B, Stenzel W, Schuelke M, Zemojtel T.

Am J Med Genet A. 2016 Sep;170(9):2274-81. doi: 10.1002/ajmg.a.37798. Epub 2016 Jun 9. Review.

PMID:
27282648
45.

A systematic, large-scale comparison of transcription factor binding site models.

Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D.

BMC Genomics. 2016 May 21;17:388. doi: 10.1186/s12864-016-2729-8. Erratum in: BMC Genomics. 2016 Jul 20;17(1):502.

46.

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Giunta M, Edvardson S, Xu Y, Schuelke M, Gomez-Duran A, Boczonadi V, Elpeleg O, Müller JS, Horvath R.

Hum Mol Genet. 2016 Jul 15;25(14):2985-2996. Epub 2016 May 18.

47.

Identification of Targets and Interaction Partners of Arginyl-tRNA Protein Transferase in the Moss Physcomitrella patens.

Hoernstein SN, Mueller SJ, Fiedler K, Schuelke M, Vanselow JT, Schuessele C, Lang D, Nitschke R, Igloi GL, Schlosser A, Reski R.

Mol Cell Proteomics. 2016 Jun;15(6):1808-22. doi: 10.1074/mcp.M115.057190. Epub 2016 Apr 11.

48.

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Schottmann G, Seelow D, Seifert F, Morales-Gonzalez S, Gill E, von Au K, von Moers A, Stenzel W, Schuelke M.

Neurol Genet. 2015 Oct 22;1(4):e32. doi: 10.1212/NXG.0000000000000032. eCollection 2015 Dec.

49.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M.

Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25.

50.

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).

Abdulhaq UN, Daana M, Dor T, Fellig Y, Eylon S, Schuelke M, Shaag A, Elpeleg O, Edvardson S.

Muscle Nerve. 2016 Apr;53(4):564-9. doi: 10.1002/mus.24885. Epub 2015 Sep 3.

PMID:
26296490

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