Literature DB >> 19641920

[Congenital and other myopathies].

H H Goebel1, H D Müller, R Schröder.   

Abstract

The myopathies presented here fall into two groups: Congenital myopathies and protein aggregate myopathies. These genetic conditions often require all modern diagnostic investigations, including histology, enzyme histochemistry, immunohistochemistry and electron microscopy to pave the way to an adequate individual molecular analysis and diagnosis. This is necessary to provide the patient and his or her family information about disease-characteristics or even disease-specific features. Distal myopathies, although caused by mutations in different genes, and toxic myopathies as acquired neuromuscular conditions largely provide non-specific morphological features a correct nosological interpretation of which only succeeds with additional non-morphological data.

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Year:  2009        PMID: 19641920     DOI: 10.1007/s00292-009-1169-5

Source DB:  PubMed          Journal:  Pathologe        ISSN: 0172-8113            Impact factor:   1.011


  14 in total

Review 1.  Myofibrillar myopathies: a clinical and myopathological guide.

Authors:  Rolf Schröder; Benedikt Schoser
Journal:  Brain Pathol       Date:  2009-07       Impact factor: 6.508

Review 2.  Infantile intranuclear rod myopathy.

Authors:  H H Goebel; A Piirsoo; I Warlo; O Schofer; S Kehr; M Gaude
Journal:  J Child Neurol       Date:  1997-01       Impact factor: 1.987

3.  Congenital myopathy with excess of thin myofilaments.

Authors:  H H Goebel; J R Anderson; C Hübner; K Oexle; I Warlo
Journal:  Neuromuscul Disord       Date:  1997-05       Impact factor: 4.296

4.  [A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)].

Authors:  M Fardeau; J Godet-Guillain; F M Tome; H Collin; S Gaudeau; C Boffety; P Vernant
Journal:  Rev Neurol (Paris)       Date:  1978 Jun-Jul       Impact factor: 2.607

5.  Congenital myopathies in the new millennium.

Authors:  Hans H Goebel
Journal:  J Child Neurol       Date:  2005-02       Impact factor: 1.987

6.  A mutation in myotilin causes spheroid body myopathy.

Authors:  T Foroud; N Pankratz; A P Batchman; M W Pauciulo; R Vidal; L Miravalle; H H Goebel; L J Cushman; B Azzarelli; H Horak; M Farlow; W C Nichols
Journal:  Neurology       Date:  2005-12-27       Impact factor: 9.910

7.  Experimental emetine myopathy: enzyme histochemical, electron microscopic, and immunomorphological studies.

Authors:  N J Hopf; H H Goebel
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

8.  Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Authors:  Joachim Schessl; Yaqun Zou; Meagan J McGrath; Belinda S Cowling; Baijayanta Maiti; Steven S Chin; Caroline Sewry; Roberta Battini; Ying Hu; Denny L Cottle; Michael Rosenblatt; Lynn Spruce; Arupa Ganguly; Janbernd Kirschner; Alexander R Judkins; Jeffrey A Golden; Hans-Hilmar Goebel; Francesco Muntoni; Kevin M Flanigan; Christina A Mitchell; Carsten G Bönnemann
Journal:  J Clin Invest       Date:  2008-03       Impact factor: 14.808

Review 9.  What's new in congenital myopathies?

Authors:  Kathryn North
Journal:  Neuromuscul Disord       Date:  2008-05-14       Impact factor: 4.296

10.  Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

Authors:  Duygu Selcen; Kinji Ohno; Andrew G Engel
Journal:  Brain       Date:  2004-01-07       Impact factor: 13.501

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