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Items: 1 to 20 of 31

1.

The genomic and clinical landscape of fetal akinesia.

Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S.

Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4.

PMID:
31680123
2.

Teaching Video NeuroImages: Propriospinal myoclonus as a sequela of Guillain-Barré syndrome.

Bedarf JR, Nelles M, Reimann J, Paus S, Zimmermann J.

Neurology. 2018 Jul 17;91(3):e297-e299. doi: 10.1212/WNL.0000000000005827. No abstract available.

PMID:
30012662
3.

Endoplasmic Reticulum Stress Induces Myostatin High Molecular Weight Aggregates and Impairs Mature Myostatin Secretion.

Sachdev R, Kappes-Horn K, Paulsen L, Duernberger Y, Pleschka C, Denner P, Kundu B, Reimann J, Vorberg I.

Mol Neurobiol. 2018 Nov;55(11):8355-8373. doi: 10.1007/s12035-018-0997-9. Epub 2018 Mar 15.

4.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B.

J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19.

5.

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis.

Cordts I, Bodart N, Hartmann K, Karagiorgou K, Tzartos JS, Mei L, Reimann J, Van Damme P, Rivner MH, Vigneron A, Weis J, Schulz JB, Tzartos SJ, Claeys KG.

J Neurol. 2017 Jun;264(6):1193-1203. doi: 10.1007/s00415-017-8514-z. Epub 2017 May 17.

PMID:
28516329
6.

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.

Orphanet J Rare Dis. 2017 May 11;12(1):86. doi: 10.1186/s13023-017-0640-2. Review.

7.

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls.

Reimann J, Lehmann D, Hardy SA, Falkous G, Knowles CV, Jones RL, Kunz WS, Taylor RW, Kornblum C.

Neurol Genet. 2017 Apr 5;3(3):e147. doi: 10.1212/NXG.0000000000000147. eCollection 2017 Jun. No abstract available.

8.

Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome.

Reimann J, Kohlschmidt N, Tolksdorf K, Weis J, Kuchelmeister K, Roos A.

J Neuropathol Exp Neurol. 2017 May 1;76(5):337-341. doi: 10.1093/jnen/nlx016.

PMID:
28371804
9.

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS.

Brain. 2016 Feb;139(Pt 2):338-45. doi: 10.1093/brain/awv357. Epub 2015 Dec 17.

PMID:
26685157
10.

Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.

Elbracht M, Senderek J, Schara U, Nolte K, Klopstock T, Roos A, Reimann J, Zerres K, Weis J, Rudnik-Schöneborn S.

Clin Neuropathol. 2014 Sep-Oct;33(5):335-43. doi: 10.5414/NP300742.

PMID:
24887401
11.

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy.

Claeys KG, Gorodinskaya O, Handt S, Reimann J, Kress W, Kornblum C, Kuhl C, Schulz JB, Weis J.

Neurology. 2013 Sep 3;81(10):932-5. doi: 10.1212/WNL.0b013e3182a35285. Epub 2013 Aug 6. No abstract available.

PMID:
23921885
12.

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF.

Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31.

13.

ZASPopathy with childhood-onset distal myopathy.

Strach K, Reimann J, Thomas D, Naehle CP, Kress W, Kornblum C.

J Neurol. 2012 Jul;259(7):1494-6. doi: 10.1007/s00415-012-6543-1. Epub 2012 May 23.

PMID:
22619057
14.

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H.

J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5.

PMID:
21544567
15.

Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery.

Niehusmann P, Surges R, von Wrede RD, Elger CE, Wellmer J, Reimann J, Urbach H, Vielhaber S, Bien CG, Kunz WS.

Epilepsy Behav. 2011 Jan;20(1):38-43. doi: 10.1016/j.yebeh.2010.11.008. Epub 2010 Dec 9.

PMID:
21145289
16.

Early signs of VCP-related frontotemporal dementia: a neuropsychological, FDG-PET and fMRI study.

Kalbe E, Onur OA, Minnerop M, Reimann J, Althaus A, Ahmadzadehfar H, Dodel R, Strach K, Clemen CS, Herholz K, Haense C, Fink GR, Schröder R.

J Neurol. 2011 Mar;258(3):515-8. doi: 10.1007/s00415-010-5774-2. Epub 2010 Oct 12. Review. No abstract available.

PMID:
20938780
17.

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

Clemen CS, Tangavelou K, Strucksberg KH, Just S, Gaertner L, Regus-Leidig H, Stumpf M, Reimann J, Coras R, Morgan RO, Fernandez MP, Hofmann A, Müller S, Schoser B, Hanisch FG, Rottbauer W, Blümcke I, von Hörsten S, Eichinger L, Schröder R.

Brain. 2010 Oct;133(10):2920-41. doi: 10.1093/brain/awq222. Epub 2010 Sep 9.

PMID:
20833645
18.

Macrophage migration inhibitory factor in normal human skeletal muscle and inflammatory myopathies.

Reimann J, Schnell S, Schwartz S, Kappes-Horn K, Dodel R, Bacher M.

J Neuropathol Exp Neurol. 2010 Jun;69(6):654-62. doi: 10.1097/NEN.0b013e3181e10925.

PMID:
20467327
19.

Reverse protein arrays as novel approach for protein quantification in muscular dystrophies.

Escher C, Lochmüller H, Fischer D, Frank S, Reimann J, Walter MC, Ehrat M, Ruegg MA, Gygax D.

Neuromuscul Disord. 2010 May;20(5):302-9. doi: 10.1016/j.nmd.2010.02.017. Epub 2010 Mar 20.

PMID:
20304647
20.

Structural and functional diversity of novel coronin 1C (CRN2) isoforms in muscle.

Xavier CP, Rastetter RH, Stumpf M, Rosentreter A, Müller R, Reimann J, Cornfine S, Linder S, van Vliet V, Hofmann A, Morgan RO, Fernandez MP, Schröder R, Noegel AA, Clemen CS.

J Mol Biol. 2009 Oct 23;393(2):287-99. doi: 10.1016/j.jmb.2009.07.079. Epub 2009 Aug 3.

PMID:
19651142

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