Literature DB >> 14315666

HEREDITARY OCCURRENCE OF NEMALINE MYOPATHY.

A J SPIRO, C KENNEDY.   

Abstract

Keywords:  BIOPSY; CHILD; GENETICS, HUMAN; MUSCULAR DISEASES; MYOFIBRILS; PATHOLOGY

Mesh：

Year:  1965        PMID： 14315666     DOI： 10.1001/archneur.1965.00470020045006

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


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  8 in total

Review 1.  Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

Authors:  K N North; N G Laing; C Wallgren-Pettersson
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  [The diagnostic specificity of nemaline-structures].

Authors:  F Jerusalem; H Goetze; M Mumenthaler
Journal:  Z Neurol       Date:  1971

3.  [Study of a new observation of "nemaline myopathy". II. Ultrastructural findings].

Authors:  M Fardeau
Journal:  Acta Neuropathol       Date:  1969       Impact factor: 17.088

4.  Genetics of congenital nemaline myopathy: a study of 10 families.

Authors:  C Wallgren-Pettersson; H Kääriäinen; J Rapola; T Salmi; J Jääskeläinen; M Donner
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

5.  Congenital nemaline myopathy: two patients with consanguineous parents, one with a progressive course.

Authors:  W F Arts; C J de Groot
Journal:  J Neurol       Date:  1983       Impact factor: 4.849

6.  TNNT1 nemaline myopathy: natural history and therapeutic frontier.

Authors:  Michael D Fox; Vincent J Carson; Han-Zhong Feng; Michael W Lawlor; John T Gray; Karlla W Brigatti; J-P Jin; Kevin A Strauss
Journal:  Hum Mol Genet       Date:  2018-09-15       Impact factor: 6.150

7.  The sporadic occurrence in cardiac muscle of anomalous Z bands exhibiting a periodic structure suggestive of tropomyosin.

Authors:  D W Fawcett
Journal:  J Cell Biol       Date:  1968-01       Impact factor: 10.539

8.  Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.

Authors:  Chamindra G Konersman; Fernande Freyermuth; Thomas L Winder; Michael W Lawlor; Clotilde Lagier-Tourenne; Shailendra B Patel
Journal:  Mol Genet Genomic Med       Date:  2017-08-21       Impact factor: 2.183
  8 in total

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