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Items: 1 to 50 of 203

1.

Comprehensive analysis of the mutation spectrum in 301 German ALS families.

Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET.

J Neurol Neurosurg Psychiatry. 2018 Apr 12. pii: jnnp-2017-317611. doi: 10.1136/jnnp-2017-317611. [Epub ahead of print]

PMID:
29650794
2.

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.

Merk DJ, Ohli J, Merk ND, Thatikonda V, Morrissy S, Schoof M, Schmid SN, Harrison L, Filser S, Ahlfeld J, Erkek S, Raithatha K, Andreska T, Weißhaar M, Launspach M, Neumann JE, Shakarami M, Plenker D, Marra MA, Li Y, Mungall AJ, Moore RA, Ma Y, Jones SJM, Lutz B, Ertl-Wagner B, Rossi A, Wagener R, Siebert R, Jung A, Eberhart CG, Lach B, Sendtner M, Pfister SM, Taylor MD, Chavez L, Kool M, Schüller U.

Dev Cell. 2018 Mar 26;44(6):709-724.e6. doi: 10.1016/j.devcel.2018.02.012. Epub 2018 Mar 15.

PMID:
29551561
3.

Autophagy in the presynaptic compartment.

Lüningschrör P, Sendtner M.

Curr Opin Neurobiol. 2018 Mar 14;51:80-85. doi: 10.1016/j.conb.2018.02.023. [Epub ahead of print] Review.

PMID:
29549710
4.

hnRNP R and its main interactor, the noncoding RNA 7SK, coregulate the axonal transcriptome of motoneurons.

Briese M, Saal-Bauernschubert L, Ji C, Moradi M, Ghanawi H, Uhl M, Appenzeller S, Backofen R, Sendtner M.

Proc Natl Acad Sci U S A. 2018 Mar 20;115(12):E2859-E2868. doi: 10.1073/pnas.1721670115. Epub 2018 Mar 5.

5.

Hot-spot KIF5A mutations cause familial ALS.

Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D; German ALS network MND-NET , Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH.

Brain. 2018 Jan 12. doi: 10.1093/brain/awx370. [Epub ahead of print]

6.

Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease.

Lüningschrör P, Binotti B, Dombert B, Heimann P, Perez-Lara A, Slotta C, Thau-Habermann N, R von Collenberg C, Karl F, Damme M, Horowitz A, Maystadt I, Füchtbauer A, Füchtbauer EM, Jablonka S, Blum R, Üçeyler N, Petri S, Kaltschmidt B, Jahn R, Kaltschmidt C, Sendtner M.

Nat Commun. 2017 Oct 30;8(1):678. doi: 10.1038/s41467-017-00689-z.

7.

Optimized Whole Transcriptome Profiling of Motor Axons.

Saal-Bauernschubert L, Briese M, Sendtner M.

Methods Mol Biol. 2017;1654:231-241. doi: 10.1007/978-1-4939-7231-9_16.

PMID:
28986794
8.

Developmental regulation of SMN expression: pathophysiological implications and perspectives for therapy development in spinal muscular atrophy.

Jablonka S, Sendtner M.

Gene Ther. 2017 Sep;24(9):506-513. doi: 10.1038/gt.2017.46. Epub 2017 May 30. Review.

PMID:
28556834
9.

Differential roles of α-, β-, and γ-actin in axon growth and collateral branch formation in motoneurons.

Moradi M, Sivadasan R, Saal L, Lüningschrör P, Dombert B, Rathod RJ, Dieterich DC, Blum R, Sendtner M.

J Cell Biol. 2017 Mar 6;216(3):793-814. doi: 10.1083/jcb.201604117. Epub 2017 Feb 28.

10.

Pathogenic inflammation in the CNS of mice carrying human PLP1 mutations.

Groh J, Friedman HC, Orel N, Ip CW, Fischer S, Spahn I, Schäffner E, Hörner M, Stadler D, Buttmann M, Varallyay C, Solymosi L, Sendtner M, Peterson AC, Martini R.

Hum Mol Genet. 2016 Nov 1;25(21):4686-4702. doi: 10.1093/hmg/ddw296.

PMID:
28173160
11.

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons.

Sivadasan R, Hornburg D, Drepper C, Frank N, Jablonka S, Hansel A, Lojewski X, Sterneckert J, Hermann A, Shaw PJ, Ince PG, Mann M, Meissner F, Sendtner M.

Nat Neurosci. 2016 Dec;19(12):1610-1618. doi: 10.1038/nn.4407. Epub 2016 Oct 10.

PMID:
27723745
12.

ALS-Associated Endoplasmic Reticulum Proteins in Denervated Skeletal Muscle: Implications for Motor Neuron Disease Pathology.

Jesse CM, Bushuven E, Tripathi P, Chandrasekar A, Simon CM, Drepper C, Yamoah A, Dreser A, Katona I, Johann S, Beyer C, Wagner S, Grond M, Nikolin S, Anink J, Troost D, Sendtner M, Goswami A, Weis J.

Brain Pathol. 2017 Nov;27(6):781-794. doi: 10.1111/bpa.12453. Epub 2017 Feb 15.

PMID:
27790792
13.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH.

Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.

14.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium, Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE.

Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25.

15.

Initial characterization of a Syap1 knock-out mouse and distribution of Syap1 in mouse brain and cultured motoneurons.

Schmitt D, Funk N, Blum R, Asan E, Andersen L, Rülicke T, Sendtner M, Buchner E.

Histochem Cell Biol. 2016 Oct;146(4):489-512. doi: 10.1007/s00418-016-1457-0. Epub 2016 Jun 25.

16.

Insulin-like growth factor 1 in diabetic neuropathy and amyotrophic lateral sclerosis.

Rauskolb S, Dombert B, Sendtner M.

Neurobiol Dis. 2017 Jan;97(Pt B):103-113. doi: 10.1016/j.nbd.2016.04.007. Epub 2016 Apr 30. Review.

PMID:
27142684
17.

Neurofilament depletion improves microtubule dynamics via modulation of Stat3/stathmin signaling.

Yadav P, Selvaraj BT, Bender FL, Behringer M, Moradi M, Sivadasan R, Dombert B, Blum R, Asan E, Sauer M, Julien JP, Sendtner M.

Acta Neuropathol. 2016 Jul;132(1):93-110. doi: 10.1007/s00401-016-1564-y. Epub 2016 Mar 28.

18.

Can physical exercise in old age improve memory and hippocampal function?

Duzel E, van Praag H, Sendtner M.

Brain. 2016 Mar;139(Pt 3):662-73. doi: 10.1093/brain/awv407. Epub 2016 Feb 11. Review.

19.

Relationships of peripheral IGF-1, VEGF and BDNF levels to exercise-related changes in memory, hippocampal perfusion and volumes in older adults.

Maass A, Düzel S, Brigadski T, Goerke M, Becke A, Sobieray U, Neumann K, Lövdén M, Lindenberger U, Bäckman L, Braun-Dullaeus R, Ahrens D, Heinze HJ, Müller NG, Lessmann V, Sendtner M, Düzel E.

Neuroimage. 2016 May 1;131:142-54. doi: 10.1016/j.neuroimage.2015.10.084. Epub 2015 Nov 3.

20.

Whole transcriptome profiling reveals the RNA content of motor axons.

Briese M, Saal L, Appenzeller S, Moradi M, Baluapuri A, Sendtner M.

Nucleic Acids Res. 2016 Feb 29;44(4):e33. doi: 10.1093/nar/gkv1027. Epub 2015 Oct 12.

21.

Dysregulated IGFBP5 expression causes axon degeneration and motoneuron loss in diabetic neuropathy.

Simon CM, Rauskolb S, Gunnersen JM, Holtmann B, Drepper C, Dombert B, Braga M, Wiese S, Jablonka S, Pühringer D, Zielasek J, Hoeflich A, Silani V, Wolf E, Kneitz S, Sommer C, Toyka KV, Sendtner M.

Acta Neuropathol. 2015 Sep;130(3):373-87. doi: 10.1007/s00401-015-1446-8. Epub 2015 May 30.

22.

Moving towards treatments for spinal muscular atrophy: hopes and limits.

Wirth B, Barkats M, Martinat C, Sendtner M, Gillingwater TH.

Expert Opin Emerg Drugs. 2015 Sep;20(3):353-6. doi: 10.1517/14728214.2015.1041375. Epub 2015 Jul 3. Review.

PMID:
25920617
23.

Vascular signal transducer and activator of transcription-3 promotes angiogenesis and neuroplasticity long-term after stroke.

Hoffmann CJ, Harms U, Rex A, Szulzewsky F, Wolf SA, Grittner U, Lättig-Tünnemann G, Sendtner M, Kettenmann H, Dirnagl U, Endres M, Harms C.

Circulation. 2015 May 19;131(20):1772-82. doi: 10.1161/CIRCULATIONAHA.114.013003. Epub 2015 Mar 20.

24.

The CB₁ cannabinoid receptor signals striatal neuroprotection via a PI3K/Akt/mTORC1/BDNF pathway.

Blázquez C, Chiarlone A, Bellocchio L, Resel E, Pruunsild P, García-Rincón D, Sendtner M, Timmusk T, Lutz B, Galve-Roperh I, Guzmán M.

Cell Death Differ. 2015 Oct;22(10):1618-29. doi: 10.1038/cdd.2015.11. Epub 2015 Feb 20.

25.

Thymocyte-derived BDNF influences T-cell maturation at the DN3/DN4 transition stage.

Linker RA, Lee DH, Flach AC, Litke T, van den Brandt J, Reichardt HM, Lingner T, Bommhardt U, Sendtner M, Gold R, Flügel A, Lühder F.

Eur J Immunol. 2015 May;45(5):1326-38. doi: 10.1002/eji.201444985. Epub 2015 Feb 19.

26.

Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons.

Dombert B, Sivadasan R, Simon CM, Jablonka S, Sendtner M.

PLoS One. 2014 Oct 22;9(10):e110846. doi: 10.1371/journal.pone.0110846. eCollection 2014.

27.

Subcellular transcriptome alterations in a cell culture model of spinal muscular atrophy point to widespread defects in axonal growth and presynaptic differentiation.

Saal L, Briese M, Kneitz S, Glinka M, Sendtner M.

RNA. 2014 Nov;20(11):1789-802. doi: 10.1261/rna.047373.114. Epub 2014 Sep 22.

28.

Deep proteomic evaluation of primary and cell line motoneuron disease models delineates major differences in neuronal characteristics.

Hornburg D, Drepper C, Butter F, Meissner F, Sendtner M, Mann M.

Mol Cell Proteomics. 2014 Dec;13(12):3410-20. doi: 10.1074/mcp.M113.037291. Epub 2014 Sep 5.

29.

Cooperation of tyrosine kinase receptor TrkB and epidermal growth factor receptor signaling enhances migration and dispersal of lung tumor cells.

Götz R, Sendtner M.

PLoS One. 2014 Jun 24;9(6):e100944. doi: 10.1371/journal.pone.0100944. eCollection 2014.

30.

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD; ITALSGEN, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ.

Nat Neurosci. 2014 May;17(5):664-666. doi: 10.1038/nn.3688. Epub 2014 Mar 30.

31.

Motoneuron disease.

Sendtner M.

Handb Exp Pharmacol. 2014;220:411-41. doi: 10.1007/978-3-642-45106-5_15. Review.

PMID:
24668481
32.

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators.

Hum Mol Genet. 2014 Apr 15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20.

33.

SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy.

See K, Yadav P, Giegerich M, Cheong PS, Graf M, Vyas H, Lee SG, Mathavan S, Fischer U, Sendtner M, Winkler C.

Hum Mol Genet. 2014 Apr 1;23(7):1754-70. doi: 10.1093/hmg/ddt567. Epub 2013 Nov 11.

PMID:
24218366
34.

Mechanisms for axon maintenance and plasticity in motoneurons: alterations in motoneuron disease.

Jablonka S, Dombert B, Asan E, Sendtner M.

J Anat. 2014 Jan;224(1):3-14. doi: 10.1111/joa.12097. Epub 2013 Sep 6. Review.

35.

Up-regulation of ciliary neurotrophic factor in astrocytes by aspirin: implications for remyelination in multiple sclerosis.

Modi KK, Sendtner M, Pahan K.

J Biol Chem. 2013 Jun 21;288(25):18533-45. doi: 10.1074/jbc.M112.447268. Epub 2013 May 7.

36.

CNTF, STAT3 and new therapies for axonal degeneration: what are they and what can they do?

Selvaraj BT, Sendtner M.

Expert Rev Neurother. 2013 Mar;13(3):239-41. doi: 10.1586/ern.13.9. Review. No abstract available.

PMID:
23448212
37.

EGF transactivation of Trk receptors regulates the migration of newborn cortical neurons.

Puehringer D, Orel N, Lüningschrör P, Subramanian N, Herrmann T, Chao MV, Sendtner M.

Nat Neurosci. 2013 Apr;16(4):407-15. doi: 10.1038/nn.3333. Epub 2013 Feb 17.

38.

Local axonal function of STAT3 rescues axon degeneration in the pmn model of motoneuron disease.

Selvaraj BT, Frank N, Bender FL, Asan E, Sendtner M.

J Cell Biol. 2012 Oct 29;199(3):437-51. doi: 10.1083/jcb.201203109.

39.

Leukemia inhibitory factor protects axons in experimental autoimmune encephalomyelitis via an oligodendrocyte-independent mechanism.

Gresle MM, Alexandrou E, Wu Q, Egan G, Jokubaitis V, Ayers M, Jonas A, Doherty W, Friedhuber A, Shaw G, Sendtner M, Emery B, Kilpatrick T, Butzkueven H.

PLoS One. 2012;7(10):e47379. doi: 10.1371/journal.pone.0047379. Epub 2012 Oct 15.

40.

Functional improvement in mouse models of familial amyotrophic lateral sclerosis by PEGylated insulin-like growth factor I treatment depends on disease severity.

Saenger S, Holtmann B, Nilges MR, Schroeder S, Hoeflich A, Kletzl H, Spooren W, Ostrowitzki S, Hanania T, Sendtner M, Metzger F.

Amyotroph Lateral Scler. 2012 Sep;13(5):418-29. doi: 10.3109/17482968.2012.679944. Epub 2012 Aug 7.

PMID:
22871074
41.

Laminin induced local axonal translation of β-actin mRNA is impaired in SMN-deficient motoneurons.

Rathod R, Havlicek S, Frank N, Blum R, Sendtner M.

Histochem Cell Biol. 2012 Nov;138(5):737-48. doi: 10.1007/s00418-012-0989-1. Epub 2012 Jul 19.

PMID:
22810847
42.

Molecular basis of neural repair mechanisms.

Müller HW, Sendtner M, Bähr M.

Cell Tissue Res. 2012 Jul;349(1):1-4. doi: 10.1007/s00441-012-1448-y. No abstract available.

PMID:
22700006
43.

Role of Na(v)1.9 in activity-dependent axon growth in motoneurons.

Subramanian N, Wetzel A, Dombert B, Yadav P, Havlicek S, Jablonka S, Nassar MA, Blum R, Sendtner M.

Hum Mol Genet. 2012 Aug 15;21(16):3655-67. doi: 10.1093/hmg/dds195. Epub 2012 May 28.

PMID:
22641814
44.

Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis.

Ingram CJ, Weale ME, Plaster CA, Morrison KE, Goodall EF, Pall HS, Beck M, Jablonka S, Sendtner M, Fisher EM, Bradman N, Kasperavičiūtė D.

Amyotroph Lateral Scler. 2012 Jun;13(4):341-6. doi: 10.3109/17482968.2012.654394. Epub 2012 Mar 13.

PMID:
22409358
45.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.

Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O; Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ.

Lancet Neurol. 2012 Apr;11(4):323-30. doi: 10.1016/S1474-4422(12)70043-1. Epub 2012 Mar 9.

46.

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG, Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P, La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria Pinter G, Simone I, Logroscino G, Gambardella A, Quattrone A, Lunetta C, Volanti P, Zollino M, Penco S, Battistini S; ITALSGEN consortium, Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M.

Brain. 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366.

47.

Microtubule associated tumor suppressor 1 deficient mice develop spontaneous heart hypertrophy and SLE-like lymphoproliferative disease.

Zuern C, Krenacs L, Starke S, Heimrich J, Palmetshofer A, Holtmann B, Sendtner M, Fischer T, Galle J, Wanner C, Seibold S.

Int J Oncol. 2012 Apr;40(4):1079-88. doi: 10.3892/ijo.2011.1311. Epub 2011 Dec 20.

48.

Na(+)-D-glucose cotransporter SGLT1 is pivotal for intestinal glucose absorption and glucose-dependent incretin secretion.

Gorboulev V, Schürmann A, Vallon V, Kipp H, Jaschke A, Klessen D, Friedrich A, Scherneck S, Rieg T, Cunard R, Veyhl-Wichmann M, Srinivasan A, Balen D, Breljak D, Rexhepaj R, Parker HE, Gribble FM, Reimann F, Lang F, Wiese S, Sabolic I, Sendtner M, Koepsell H.

Diabetes. 2012 Jan;61(1):187-96. doi: 10.2337/db11-1029. Epub 2011 Nov 28.

49.

Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts.

Horos R, Ijspeert H, Pospisilova D, Sendtner R, Andrieu-Soler C, Taskesen E, Nieradka A, Cmejla R, Sendtner M, Touw IP, von Lindern M.

Blood. 2012 Jan 5;119(1):262-72. doi: 10.1182/blood-2011-06-358200. Epub 2011 Nov 4.

50.

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis.

Ferraiuolo L, Kirby J, Grierson AJ, Sendtner M, Shaw PJ.

Nat Rev Neurol. 2011 Nov;7(11):616-30. doi: 10.1038/nrneurol.2011.152. Review.

PMID:
22051914

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