Goebel HH - Search Results

1

Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy.

Hess B, Saftig P, Hartmann D, Coenen R, Lüllmann-Rauch R, Goebel HH, Evers M, von Figura K, D'Hooge R, Nagels G, De Deyn P, Peters C, Gieselmann V. Hess B, et al. Among authors: goebel hh. Proc Natl Acad Sci U S A. 1996 Dec 10;93(25):14821-6. doi: 10.1073/pnas.93.25.14821. Proc Natl Acad Sci U S A. 1996. PMID: 8962139 Free PMC article.

2

Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy.

Ramakrishnan H, Hedayati KK, Lüllmann-Rauch R, Wessig C, Fewou SN, Maier H, Goebel HH, Gieselmann V, Eckhardt M. Ramakrishnan H, et al. Among authors: goebel hh. J Neurosci. 2007 Aug 29;27(35):9482-90. doi: 10.1523/JNEUROSCI.2287-07.2007. J Neurosci. 2007. PMID: 17728461 Free PMC article.

3

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. Kubisch C, et al. Among authors: goebel hh. Ann Neurol. 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501. Ann Neurol. 2003. PMID: 12666119

4

Preparation of Samples for Large-Scale Automated Electron Microscopy of Tissue and Cell Ultrastructure.

Dittmayer C, Goebel HH, Heppner FL, Stenzel W, Bachmann S. Dittmayer C, et al. Among authors: goebel hh. Microsc Microanal. 2021 Aug;27(4):815-827. doi: 10.1017/S1431927621011958. Microsc Microanal. 2021. PMID: 34266508

5

Muscle pathology in 57 patients with myotonic dystrophy type 2.

Schoser BG, Schneider-Gold C, Kress W, Goebel HH, Reilich P, Koch MC, Pongratz DE, Toyka KV, Lochmüller H, Ricker K. Schoser BG, et al. Among authors: goebel hh. Muscle Nerve. 2004 Feb;29(2):275-81. doi: 10.1002/mus.10545. Muscle Nerve. 2004. PMID: 14755494

6

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. Preuße C, et al. Among authors: goebel hh. Acta Neuropathol Commun. 2016 Apr 27;4(1):45. doi: 10.1186/s40478-016-0308-5. Acta Neuropathol Commun. 2016. PMID: 27121733 Free PMC article.

7

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. Lohkamp LN, et al. Among authors: goebel hh. J Child Neurol. 2014 Feb;29(2):254-9. doi: 10.1177/0883073813511858. Epub 2013 Dec 11. J Child Neurol. 2014. PMID: 24334346

8

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. Phan V, et al. Among authors: goebel hh. Neurobiol Dis. 2019 Apr;124:218-229. doi: 10.1016/j.nbd.2018.11.019. Epub 2018 Nov 20. Neurobiol Dis. 2019. PMID: 30468864

9

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. Zaum AK, et al. Among authors: goebel hh. Neuromuscul Disord. 2018 Aug;28(8):671-674. doi: 10.1016/j.nmd.2018.06.006. Epub 2018 Jun 20. Neuromuscul Disord. 2018. PMID: 30017359

10

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. Allenbach Y, et al. Among authors: goebel hh. Neurology. 2018 Feb 6;90(6):e507-e517. doi: 10.1212/WNL.0000000000004923. Epub 2018 Jan 12. Neurology. 2018. PMID: 29330311

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