Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 440

1.

Sequestosome-1 (p62) expression reveals chaperone-assisted selective autophagy in immune-mediated necrotizing myopathies.

Fischer N, Preuße C, Radke J, Pehl D, Allenbach Y, Schneider U, Feist E, von Casteleyn V, Hahn K, Ruck T, Meuth SG, Goebel HH, Graf R, Mammen A, Benveniste O, Stenzel W.

Brain Pathol. 2019 Aug 3. doi: 10.1111/bpa.12772. [Epub ahead of print]

PMID:
31376301
2.

Idiopathic inflammatory myopathy: Interrater variability in muscle biopsy reading.

Olivier PA, De Paepe B, Aronica E, Berfelo F, Colman R, Amato A, Dimitri D, Gallardo E, Gherardi R, Goebel HH, Hilton-Jones D, Hofer M, Holton J, Schrøder HD, Selcen D, Stenzel W, de Visser M, De Bleecker JL.

Neurology. 2019 Aug 27;93(9):e889-e894. doi: 10.1212/WNL.0000000000008005. Epub 2019 Jul 29.

PMID:
31358616
3.

Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy.

Preuße C, von Moers A, Kölbel H, Pehl D, Goebel HH, Schara U, Stenzel W.

Neuromuscul Disord. 2019 Jul;29(7):487-496. doi: 10.1016/j.nmd.2019.05.003. Epub 2019 May 10.

PMID:
31326192
4.

Biomarkers in Inflammatory Myopathies-An Expanded Definition.

Benveniste O, Goebel HH, Stenzel W.

Front Neurol. 2019 Jun 4;10:554. doi: 10.3389/fneur.2019.00554. eCollection 2019. Review.

5.

Proteomic Profiling Unravels a Key Role of Specific Macrophage Subtypes in Sporadic Inclusion Body Myositis.

Roos A, Preusse C, Hathazi D, Goebel HH, Stenzel W.

Front Immunol. 2019 May 9;10:1040. doi: 10.3389/fimmu.2019.01040. eCollection 2019.

6.

1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018.

Udd B, Stenzel W, Oldfors A, Olivé M, Romero N, Lammens M, Kusters B, Sewry C, Goebel HH, Evangelista T.

Neuromuscul Disord. 2019 Jun;29(6):483-485. doi: 10.1016/j.nmd.2019.03.002. Epub 2019 Mar 15. No abstract available.

PMID:
31101462
7.

Recently Identified Congenital Myopathies.

Radke J, Stenzel W, Goebel HH.

Semin Pediatr Neurol. 2019 Apr;29:83-90. doi: 10.1016/j.spen.2019.01.008. Epub 2019 Feb 10.

PMID:
31060728
8.

Introduction.

Goebel HH.

Semin Pediatr Neurol. 2019 Apr;29:1-2. doi: 10.1016/j.spen.2019.01.003. Epub 2019 Feb 8. No abstract available.

PMID:
31060720
9.

PD1 pathway in immune-mediated myopathies: Pathogenesis of dysfunctional T cells revisited.

Knauss S, Preusse C, Allenbach Y, Leonard-Louis S, Touat M, Fischer N, Radbruch H, Mothes R, Matyash V, Böhmerle W, Endres M, Goebel HH, Benveniste O, Stenzel W.

Neurol Neuroimmunol Neuroinflamm. 2019 Apr 10;6(3):e558. doi: 10.1212/NXI.0000000000000558. eCollection 2019 May.

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.

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.

Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmüller H, Straka T, Rudolf R, Weis J, Roos A.

Neurobiol Dis. 2019 Apr;124:218-229. doi: 10.1016/j.nbd.2018.11.019. Epub 2018 Nov 20.

PMID:
30468864
12.

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
13.

New variant of necklace fibres display peculiar lysosomal structures and mitophagy.

Rinnenthal JL, Dittmayer C, Irlbacher K, Wacker I, Schröder R, Goebel HH, Butori C, Villa L, Sacconi S, Stenzel W.

Neuromuscul Disord. 2018 Oct;28(10):846-856. doi: 10.1016/j.nmd.2018.06.010. Epub 2018 Jul 2.

PMID:
30149909
14.

A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.

Zaum AK, Kolokotronis K, Kress W, Goebel HH, Rost S, Seeger J.

Neuromuscul Disord. 2018 Aug;28(8):671-674. doi: 10.1016/j.nmd.2018.06.006. Epub 2018 Jun 20.

PMID:
30017359
15.

The Curse of Apneic Spells.

Radke J, Dreesmann M, Radke M, von Moers A, Abicht A, Stenzel W, Goebel HH.

Semin Pediatr Neurol. 2018 Jul;26:56-58. doi: 10.1016/j.spen.2017.03.006. Epub 2017 Apr 13.

PMID:
29961520
16.

Architectural B-cell organization in skeletal muscle identifies subtypes of dermatomyositis.

Radke J, Koll R, Preuße C, Pehl D, Todorova K, Schönemann C, Allenbach Y, Aronica E, de Visser M, Heppner FL, Weis J, Doostkam S, Maisonobe T, Benveniste O, Goebel HH, Stenzel W.

Neurol Neuroimmunol Neuroinflamm. 2018 Mar 6;5(3):e451. doi: 10.1212/NXI.0000000000000451. eCollection 2018 May.

17.

Necrosis in anti-SRP+ and anti-HMGCR+myopathies: Role of autoantibodies and complement.

Allenbach Y, Arouche-Delaperche L, Preusse C, Radbruch H, Butler-Browne G, Champtiaux N, Mariampillai K, Rigolet A, Hufnagl P, Zerbe N, Amelin D, Maisonobe T, Louis-Leonard S, Duyckaerts C, Eymard B, Goebel HH, Bergua C, Drouot L, Boyer O, Benveniste O, Stenzel W.

Neurology. 2018 Feb 6;90(6):e507-e517. doi: 10.1212/WNL.0000000000004923. Epub 2018 Jan 12.

PMID:
29330311
18.

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
19.

Neurometabolic and neurodegenerative diseases in children.

Radke J, Stenzel W, Goebel HH.

Handb Clin Neurol. 2017;145:133-146. doi: 10.1016/B978-0-12-802395-2.00009-2.

PMID:
28987164
20.

Myositis non-inflammatory mechanisms: An up-dated review.

Manole E, Bastian AE, Butoianu N, Goebel HH.

J Immunoassay Immunochem. 2017;38(2):115-126. doi: 10.1080/15321819.2017.1298525. Review.

PMID:
28375073
21.

Recent advances in Myopathology.

Stenzel W, Goebel HH.

Neuropathol Appl Neurobiol. 2017 Feb;43(1):3-4. doi: 10.1111/nan.12389. No abstract available.

PMID:
28297097
22.

Integrated classification of inflammatory myopathies.

Allenbach Y, Benveniste O, Goebel HH, Stenzel W.

Neuropathol Appl Neurobiol. 2017 Feb;43(1):62-81. doi: 10.1111/nan.12380. Review.

PMID:
28075491
23.

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

Hirz M, Drögemüller M, Schänzer A, Jagannathan V, Dietschi E, Goebel HH, Hecht W, Laubner S, Schmidt MJ, Steffen F, Hilbe M, Köhler K, Drögemüller C, Herden C.

Mol Genet Metab. 2017 Mar;120(3):269-277. doi: 10.1016/j.ymgme.2016.12.007. Epub 2016 Dec 19.

PMID:
28024876
24.

20th Anniversary Meeting of the Meryon Society Worcester College, Oxford.

Emery AE, Emery M, Swash M, Mikol J, Walusinski O, Goebel HH.

Neuromuscul Disord. 2017 Mar;27(3):298-303. doi: 10.1016/j.nmd.2016.11.016. Epub 2016 Nov 25. No abstract available.

PMID:
28007404
25.

Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis.

Preuße C, Allenbach Y, Hoffmann O, Goebel HH, Pehl D, Radke J, Doeser A, Schneider U, Alten RH, Kallinich T, Benveniste O, von Moers A, Schoser B, Schara U, Stenzel W.

Acta Neuropathol Commun. 2016 Apr 27;4(1):45. doi: 10.1186/s40478-016-0308-5.

26.

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.

27.

Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression.

Allenbach Y, Leroux G, Suárez-Calvet X, Preusse C, Gallardo E, Hervier B, Rigolet A, Hie M, Pehl D, Limal N, Hufnagl P, Zerbe N, Meyer A, Aouizerate J, Uzunhan Y, Maisonobe T, Goebel HH, Benveniste O, Stenzel W; French Myositis Network.

Am J Pathol. 2016 Mar;186(3):691-700. doi: 10.1016/j.ajpath.2015.11.010. Epub 2016 Jan 21.

PMID:
26806087
28.

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.

Pajusalu S, Talvik I, Noormets K, Talvik T, Põder H, Joost K, Puusepp S, Piirsoo A, Stenzel W, Goebel HH, Nikopensius T, Annilo T, Nõukas M, Metspalu A, Õunap K, Reimand T.

Neuromuscul Disord. 2016 Mar;26(3):236-9. doi: 10.1016/j.nmd.2015.11.011. Epub 2015 Dec 3.

PMID:
26782017
29.

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.

Braczynski AK, Vlaho S, Müller K, Wittig I, Blank AE, Tews DS, Drott U, Kleinle S, Abicht A, Horvath R, Plate KH, Stenzel W, Goebel HH, Schulze A, Harter PN, Kieslich M, Mittelbronn M.

Biomed Res Int. 2015;2015:462592. doi: 10.1155/2015/462592. Epub 2015 Oct 13.

30.

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V, Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I.

Neuromuscul Disord. 2015 Sep;25(9):713-8. doi: 10.1016/j.nmd.2015.07.004. Epub 2015 Jul 13.

PMID:
26231298
31.

Common Data Elements for Muscle Biopsy Reporting.

Dastgir J, Rutkowski A, Alvarez R, Cossette SA, Yan K, Hoffmann RG, Sewry C, Hayashi YK, Goebel HH, Bonnemann C, Lawlor MW.

Arch Pathol Lab Med. 2016 Jan;140(1):51-65. doi: 10.5858/arpa.2014-0453-OA. Epub 2015 Jul 1.

32.

Human NCL Neuropathology.

Radke J, Stenzel W, Goebel HH.

Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2262-6. doi: 10.1016/j.bbadis.2015.05.007. Epub 2015 May 16. Review.

33.

Expanding the spectrum of livedoid vasculopathy: peculiar neuromuscular manifestations.

Allenbach Y, Tourte M, Stenzel W, Goebel HH, Maisonobe T, Frances C, Barete S, Benveniste O.

Neuropathol Appl Neurobiol. 2015 Oct;41(6):849-52. doi: 10.1111/nan.12243. Epub 2015 May 30. No abstract available.

PMID:
25871345
34.

Proximal weakness in a patient with MALT lymphoma: a case report and discussion of possible pathogenesis.

Nunes JC, Rinnenthal JL, Allenbach Y, Lenze D, Hummel M, Jöhrens K, Walz R, Goebel HH, Heppner FL, Stenzel W.

Neuropathol Appl Neurobiol. 2015 Aug;41(5):686-9. doi: 10.1111/nan.12234. Epub 2015 May 19. No abstract available.

PMID:
25763887
35.

Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.

Stenzel W, Preuße C, Allenbach Y, Pehl D, Junckerstorff R, Heppner FL, Nolte K, Aronica E, Kana V, Rushing E, Schneider U, Claeys KG, Benveniste O, Weis J, Goebel HH.

Neurology. 2015 Mar 31;84(13):1346-54. doi: 10.1212/WNL.0000000000001422. Epub 2015 Mar 6.

36.

Th2-M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitis.

Preusse C, Goebel HH, Pehl D, Rinnenthal JL, Kley RA, Allenbach Y, Heppner FL, Vorgerd M, Authier FJ, Gherardi R, Stenzel W.

Neuropathol Appl Neurobiol. 2015 Dec;41(7):952-63. doi: 10.1111/nan.12231. Epub 2015 May 19.

PMID:
25711697
37.

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The Netherlands.

De Bleecker JL, De Paepe B, Aronica E, de Visser M; ENMC Myositis Muscle Biopsy Study Group, Amato A, Aronica E, Benveniste O, De Bleecker J, de Boer O, De Paepe B, de Visser M, Dimachkie M, Gherardi R, Goebel HH, Hilton-Jones D, Holton J, Lundberg IE, Mammen A, Mastaglia F, Nishino I, Rushing E, Schroder HD, Selcen D, Stenzel W.

Neuromuscul Disord. 2015 Mar;25(3):268-72. doi: 10.1016/j.nmd.2014.12.001. Epub 2014 Dec 10. No abstract available.

PMID:
25572016
38.

The lymphoid follicle variant of dermatomyositis.

Radke J, Pehl D, Aronica E, Schonenberg-Meinema D, Schneider U, Heppner FL, de Visser M, Goebel HH, Stenzel W.

Neurol Neuroimmunol Neuroinflamm. 2014 Jul 28;1(2):e19. doi: 10.1212/NXI.0000000000000019. eCollection 2014 Aug.

39.

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.

Sewry CA, Goebel HH.

Neuromuscul Disord. 2014 Dec;24(12):1122. doi: 10.1016/j.nmd.2014.07.007. Epub 2014 Aug 7. No abstract available.

PMID:
25193335
40.

Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.

Klein CJ, Wu Y, Vogel P, Goebel HH, Bönnemann C, Zukosky K, Botuyan MV, Duan X, Middha S, Atkinson EJ, Mer G, Dyck PJ.

Neurology. 2014 Mar 11;82(10):873-8. doi: 10.1212/WNL.0000000000000206. Epub 2014 Feb 5.

41.

Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Hoffmann S, Murrell J, Harms L, Miller K, Meisel A, Brosch T, Scheel M, Ghetti B, Goebel HH, Stenzel W.

Brain Pathol. 2014 Sep;24(5):452-8. doi: 10.1111/bpa.12120. Epub 2014 Mar 16.

PMID:
24428556
42.

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.

Roos A, Buchkremer S, Kollipara L, Labisch T, Gatz C, Zitzelsberger M, Brauers E, Nolte K, Schröder JM, Kirschner J, Jesse CM, Goebel HH, Goswami A, Zimmermann R, Zahedi RP, Senderek J, Weis J.

Acta Neuropathol. 2014 May;127(5):761-77. doi: 10.1007/s00401-013-1224-4. Epub 2013 Dec 21.

PMID:
24362440
43.

A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.

Lohkamp LN, von Au K, Goebel HH, Kress W, Grieben U, Drossel K, Garbes L, Wirth B, Heppner FL, Stenzel W.

J Child Neurol. 2014 Feb;29(2):254-9. doi: 10.1177/0883073813511858. Epub 2013 Dec 11.

PMID:
24334346
44.

Inflammatory myopathy with abundant macrophages (IMAM): the immunology revisited.

Rinnenthal JL, Goebel HH, Preuße C, Lebenheim L, Schumann M, Moos V, Schneider T, Heppner FL, Stenzel W.

Neuromuscul Disord. 2014 Feb;24(2):151-5. doi: 10.1016/j.nmd.2013.11.004. Epub 2013 Nov 18.

PMID:
24314585
45.

De novo prion aggregates trigger autophagy in skeletal muscle.

Joshi-Barr S, Bett C, Chiang WC, Trejo M, Goebel HH, Sikorska B, Liberski P, Raeber A, Lin JH, Masliah E, Sigurdson CJ.

J Virol. 2014 Feb;88(4):2071-82. doi: 10.1128/JVI.02279-13. Epub 2013 Dec 4.

46.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J.

Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30.

47.

Ultrastructural myopathology in the molecular era.

Goebel HH, Stenzel W.

Ultrastruct Pathol. 2013 Oct;37(5):328-31. doi: 10.3109/01913123.2013.810690. Review.

PMID:
24047350
48.

Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.

Schröder NW, Grieben U, Prokop S, Dekomien G, Epplen JT, Heppner FL, Goebel HH, Stenzel W.

Muscle Nerve. 2014 Jan;49(1):144-5. doi: 10.1002/mus.23981. Epub 2013 Dec 3. No abstract available.

PMID:
23929688
49.

Storage diseases: diagnostic position.

Goebel HH, Müller HD.

Ultrastruct Pathol. 2013 Feb;37(1):19-22. doi: 10.3109/01913123.2012.670060. Review.

PMID:
23383614
50.

Practical application of electron microscopy to neuromuscular diseases.

Goebel HH, Stenzel W.

Ultrastruct Pathol. 2013 Feb;37(1):15-8. doi: 10.3109/01913123.2012.670045. Review.

PMID:
23383613

Supplemental Content

Loading ...
Support Center