Goebel HH - Search Results

1

Nemaline myopathy with intranuclear rods--intranuclear rod myopathy.

Goebel HH, Warlo I. Goebel HH, et al. Neuromuscul Disord. 1997 Jan;7(1):13-9. doi: 10.1016/s0960-8966(96)00404-x. Neuromuscul Disord. 1997. PMID: 9132135 Review.

2

Infantile intranuclear rod myopathy.

Goebel HH, Piirsoo A, Warlo I, Schofer O, Kehr S, Gaude M. Goebel HH, et al. J Child Neurol. 1997 Jan;12(1):22-30. doi: 10.1177/088307389701200104. J Child Neurol. 1997. PMID: 9010792 Review.

3

Congenital myopathy with excess of thin myofilaments.

Goebel HH, Anderson JR, Hübner C, Oexle K, Warlo I. Goebel HH, et al. Neuromuscul Disord. 1997 May;7(3):160-8. doi: 10.1016/s0960-8966(97)00441-0. Neuromuscul Disord. 1997. PMID: 9185179

4

Surplus protein myopathies.

Goebel HH, Warlo IA. Goebel HH, et al. Neuromuscul Disord. 2001 Jan;11(1):3-6. doi: 10.1016/s0960-8966(00)00165-6. Neuromuscul Disord. 2001. PMID: 11166159 Review.

5

Significance of lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells.

Goebel HH, Warlo I, Klockgether T, Harzer K. Goebel HH, et al. Am J Med Genet. 1995 Jun 5;57(2):187-90. doi: 10.1002/ajmg.1320570216. Am J Med Genet. 1995. PMID: 7668328

6

Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy.

Goebel HH, Voit T, Warlo I, Jacobs K, Johannsen U, Müller CR. Goebel HH, et al. Rev Neurol (Paris). 1994 Jun-Jul;150(6-7):452-9. Rev Neurol (Paris). 1994. PMID: 7747013

7

Gene-related protein surplus myopathies.

Goebel HH, Warlo I. Goebel HH, et al. Mol Genet Metab. 2000 Sep-Oct;71(1-2):267-75. doi: 10.1006/mgme.2000.3064. Mol Genet Metab. 2000. PMID: 11001821 Review.

8

Progress in desmin-related myopathies.

Goebel HH, Warlo IA. Goebel HH, et al. J Child Neurol. 2000 Sep;15(9):565-72. doi: 10.1177/088307380001500901. J Child Neurol. 2000. PMID: 11019786 Review.

9

Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy.

Goebel HH, Brockman K, Bönnemann CG, Warlo IA, Hanefeld F, Labeit S, Durling HJ, Laing NG. Goebel HH, et al. J Child Neurol. 2006 Jun;21(6):545. doi: 10.1177/08830738060210060103. J Child Neurol. 2006. PMID: 16948949 No abstract available.

10

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation.

Rocha ML, Dittmayer C, Uruha A, Korinth D, Chaoui R, Schlembach D, Rossi R, Pelin K, Suk EK, Schmid S, Goebel HH, Schuelke M, Stenzel W, Englert B. Rocha ML, et al. Among authors: goebel hh. Neuromuscul Disord. 2021 Mar;31(3):239-245. doi: 10.1016/j.nmd.2020.11.014. Epub 2020 Dec 5. Neuromuscul Disord. 2021. PMID: 33376055

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