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Page 1
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. Senderek J, et al. Among authors: petri s. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. Neurology. 2020. PMID: 33144514 Free PMC article.
Clinical features and differential diagnosis of flail arm syndrome.
Hübers A, Hildebrandt V, Petri S, Kollewe K, Hermann A, Storch A, Hanisch F, Zierz S, Rosenbohm A, Ludolph AC, Dorst J. Hübers A, et al. Among authors: petri s. J Neurol. 2016 Feb;263(2):390-395. doi: 10.1007/s00415-015-7993-z. Epub 2015 Dec 24. J Neurol. 2016. PMID: 26705123
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, … See abstract for full author list ➔ van Rheenen W, et al. Among authors: petri s. Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455348 Free PMC article.
Diagnostic and prognostic significance of neurofilament light chain NF-L, but not progranulin and S100B, in the course of amyotrophic lateral sclerosis: Data from the German MND-net.
Steinacker P, Huss A, Mayer B, Grehl T, Grosskreutz J, Borck G, Kuhle J, Lulé D, Meyer T, Oeckl P, Petri S, Weishaupt J, Ludolph AC, Otto M. Steinacker P, et al. Among authors: petri s. Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):112-119. doi: 10.1080/21678421.2016.1241279. Epub 2016 Nov 5. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 27819158
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. Wais V, et al. Among authors: petri s. Acta Neurol Scand. 2017 Sep;136(3):204-211. doi: 10.1111/ane.12713. Epub 2016 Nov 15. Acta Neurol Scand. 2017. PMID: 27858953
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.
Schnitzler LJ, Schreckenbach T, Nadaj-Pakleza A, Stenzel W, Rushing EJ, Van Damme P, Ferbert A, Petri S, Hartmann C, Bornemann A, Meisel A, Petersen JA, Tousseyn T, Thal DR, Reimann J, De Jonghe P, Martin JJ, Van den Bergh PY, Schulz JB, Weis J, Claeys KG. Schnitzler LJ, et al. Among authors: petri s. Orphanet J Rare Dis. 2017 May 11;12(1):86. doi: 10.1186/s13023-017-0640-2. Orphanet J Rare Dis. 2017. PMID: 28490364 Free PMC article. Review.
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, 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; German ALS network MND-NET. Brenner D, et al. Among authors: petri s. Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370. Brain. 2018. PMID: 29342275 Free PMC article.
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy.
Rosenbohm A, Hirsch S, Volk AE, Grehl T, Grosskreutz J, Hanisch F, Herrmann A, Kollewe K, Kress W, Meyer T, Petri S, Prudlo J, Wessig C, Müller HP, Dreyhaupt J, Weishaupt J, Kubisch C, Kassubek J, Weydt P, Ludolph AC. Rosenbohm A, et al. Among authors: petri s. J Neurol. 2018 May;265(5):1026-1036. doi: 10.1007/s00415-018-8790-2. Epub 2018 Feb 20. J Neurol. 2018. PMID: 29464380
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. Müller K, et al. Among authors: petri s. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827. doi: 10.1136/jnnp-2017-317611. Epub 2018 Apr 12. J Neurol Neurosurg Psychiatry. 2018. PMID: 29650794
391 results