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Items: 1 to 20 of 96

1.

The Golgi-localized, gamma ear-containing, ARF-binding (GGA) protein family alters alpha synuclein (α-syn) oligomerization and secretion.

von Einem B, Eschbach J, Kiechle M, Wahler A, Thal DR, McLean PJ, Weishaupt JH, Ludolph AC, von Arnim CAF, Danzer KM.

Aging (Albany NY). 2017 Jul 15;9(7):1677-1697. doi: 10.18632/aging.101261.

2.

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F, Andersen PM, Dekker AM, Tiloca C, Marroquin N, Overste DJ, Pensato V, Nürnberg P, Pulit SL, Schellevis RD, Calini D, Altmüller J, Francioli LC, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph AC, van den Berg LH, Kubisch C, Landers JE, Veldink JH, Silani V, Volk AE.

Hum Mutat. 2017 Jul 17. doi: 10.1002/humu.23295. [Epub ahead of print]

PMID:
28714244
3.

[Genetic architecture of amyotrophic lateral sclerosis and frontotemporal dementia : Overlap and differences].

Synofzik M, Otto M, Ludolph A, Weishaupt JH.

Nervenarzt. 2017 Jul;88(7):728-735. doi: 10.1007/s00115-017-0349-4. Review. German.

PMID:
28573364
4.

Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients.

Türk M, Schröder R, Khuller K, Hofmann A, Berwanger C, Ludolph AC, Dekomien G, Müller K, Weishaupt JH, Thiel CT, Clemen CS.

Neurobiol Aging. 2017 Aug;56:213.e1-213.e5. doi: 10.1016/j.neurobiolaging.2017.04.023. Epub 2017 May 3.

PMID:
28551275
5.

Age Increases Monocyte Adhesion on Collagen.

Khalaji S, Zondler L, KleinJan F, Nolte U, Mulaw MA, Danzer KM, Weishaupt JH, Gottschalk KE.

Sci Rep. 2017 May 17;7:46532. doi: 10.1038/srep46532.

6.

Pyrimethamine significantly lowers cerebrospinal fluid Cu/Zn superoxide dismutase in amyotrophic lateral sclerosis patients with SOD1 mutations.

Lange DJ, Shahbazi M, Silani V, Ludolph AC, Weishaupt JH, Ajroud-Driss S, Fields KG, Remanan R, Appel SH, Morelli C, Doretti A, Maderna L, Messina S, Weiland U, Marklund SL, Andersen PM.

Ann Neurol. 2017 Jun;81(6):837-848. doi: 10.1002/ana.24950. Epub 2017 Jun 9.

7.

Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.

Lehmer C, Oeckl P, Weishaupt JH, Volk AE, Diehl-Schmid J, Schroeter ML, Lauer M, Kornhuber J, Levin J, Fassbender K, Landwehrmeyer B; German Consortium for Frontotemporal Lobar Degeneration, Schludi MH, Arzberger T, Kremmer E, Flatley A, Feederle R, Steinacker P, Weydt P, Ludolph AC, Edbauer D, Otto M.

EMBO Mol Med. 2017 Jul;9(7):859-868. doi: 10.15252/emmm.201607486.

8.

FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons.

Higelin J, Demestre M, Putz S, Delling JP, Jacob C, Lutz AK, Bausinger J, Huber AK, Klingenstein M, Barbi G, Speit G, Huebers A, Weishaupt JH, Hermann A, Liebau S, Ludolph AC, Boeckers TM.

Front Cell Neurosci. 2016 Dec 26;10:290. doi: 10.3389/fncel.2016.00290. eCollection 2016.

9.

Instability of C154Y variant of aldo-keto reductase 1C3.

Endo S, Takada S, Honda RP, Müller K, Weishaupt JH, Andersen PM, Ludolph AC, Kamatari YO, Matsunaga T, Kuwata K, El-Kabbani O, Ikari A.

Chem Biol Interact. 2016 Dec 23. pii: S0009-2797(16)30758-X. doi: 10.1016/j.cbi.2016.12.018. [Epub ahead of print]

PMID:
28025170
10.

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study.

Nordin A, Akimoto C, Wuolikainen A, Alstermark H, Forsberg K, Baumann P, Pinto S, de Carvalho M, Hübers A, Nordin F, Ludolph AC, Weishaupt JH, Meyer T, Grehl T, Schweikert K, Weber M, Burkhardt C, Neuwirth C, Holmøy T, Morita M, Tysnes OB, Benatar M, Wuu J, Lange DJ, Bisgård C, Asgari N, Tarvainen I, Brännström T, Andersen PM.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):256-264. doi: 10.1080/21678421.2016.1262423. Epub 2016 Dec 12.

PMID:
27936955
11.

Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Freischmidt A, Müller K, Ludolph AC, Weishaupt JH, Andersen PM.

JAMA Neurol. 2017 Jan 1;74(1):110-113. doi: 10.1001/jamaneurol.2016.3712. Review.

PMID:
27892983
12.

LRRK2 contributes to monocyte dysregulation in Parkinson's disease.

Bliederhaeuser C, Zondler L, Grozdanov V, Ruf WP, Brenner D, Melrose HL, Bauer P, Ludolph AC, Gillardon F, Kassubek J, Weishaupt JH, Danzer KM.

Acta Neuropathol Commun. 2016 Nov 24;4(1):123. No abstract available.

13.

The concept and diagnostic criteria of primary lateral sclerosis.

Wais V, Rosenbohm A, Petri S, Kollewe K, Hermann A, Storch A, Hanisch F, Zierz S, Nagel G, Kassubek J, Weydt P, Brettschneider J, Weishaupt JH, Ludolph AC, Dorst J.

Acta Neurol Scand. 2017 Sep;136(3):204-211. doi: 10.1111/ane.12713. Epub 2016 Nov 15.

PMID:
27858953
14.

Commentary: alpha-synuclein interacts with SOD1 and promotes its oligomerization.

Helferich AM, McLean PJ, Weishaupt JH, Danzer KM.

J Neurol Neuromedicine. 2016;1(7):28-30.

15.

Impaired activation of ALS monocytes by exosomes.

Zondler L, Feiler MS, Freischmidt A, Ruf WP, Ludolph AC, Danzer KM, Weishaupt JH.

Immunol Cell Biol. 2017 Feb;95(2):207-214. doi: 10.1038/icb.2016.89. Epub 2016 Sep 12.

PMID:
27616750
16.

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DL, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J.

Am J Hum Genet. 2016 Sep 1;99(3):607-23. doi: 10.1016/j.ajhg.2016.07.008.

17.

Common Molecular Pathways in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Weishaupt JH, Hyman T, Dikic I.

Trends Mol Med. 2016 Sep;22(9):769-83. doi: 10.1016/j.molmed.2016.07.005. Epub 2016 Aug 4. Review.

PMID:
27498188
18.

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.

19.

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.

20.

Aggregated α-Synuclein Increases SOD1 Oligomerization in a Mouse Model of Amyotrophic Lateral Sclerosis.

Koch Y, Helferich AM, Steinacker P, Oeckl P, Walther P, Weishaupt JH, Danzer KM, Otto M.

Am J Pathol. 2016 Aug;186(8):2152-61. doi: 10.1016/j.ajpath.2016.04.008. Epub 2016 Jun 18.

PMID:
27322773

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