Literature DB >> 4104682

Familial myopathy with probable lysis of myofibrils in type I fibers.

P A Cancilla, K Kalyanaraman, M A Verity, T Munsat, C M Pearson.   

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Year:  1971        PMID： 4104682     DOI： 10.1212/wnl.21.6.579

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  14 in total

1.  A case of type 1 muscle fibre hypotrophy and internal nuclei.

Authors:  T Inokuchi; H Umezaki; T Santa
Journal:  J Neurol Neurosurg Psychiatry       Date:  1975-05       Impact factor: 10.154

2.  Follow-up studies in a case of unusual congenital myopathy, suggestive of nemaline type.

Authors:  E Gibbels; K Kellermann; H J Schädlich; R Adams; W F Haupt
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

3.  [Centronuclear myopathy with autosomal dominant inheritance(author's transl)].

Authors:  W Mortier; E Michaelis; J Becker; L Gerhard
Journal:  Humangenetik       Date:  1975

4.  Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration.

Authors:  H Sugie; R Hanson; G Rasmussen; M A Verity
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-06       Impact factor: 10.154

Review 5.  Congenital myopathies.

Authors:  Adele D'Amico; Enrico Bertini
Journal:  Curr Neurol Neurosci Rep       Date:  2008-01       Impact factor: 5.081

6.  Pleocore disease. Multi-minicore disease and focal loss of cross striations.

Authors:  J J Martin; M Bruyland; H F Busch; J P Farriaux; I Krivosic; C Ceuterick
Journal:  Acta Neuropathol       Date:  1986       Impact factor: 17.088

7.  Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.

Authors:  Meera C Viswanathan; Rick C Tham; William A Kronert; Floyd Sarsoza; Adriana S Trujillo; Anthony Cammarato; Sanford I Bernstein
Journal:  Hum Mol Genet       Date:  2017-12-15       Impact factor: 6.150

8.  Familial focal loss of cross striations.

Authors:  G K van Wijngaarden; J Bethlem; K P Dingemans; C Coërs; N Telerman-Toppet; J M Gérard
Journal:  J Neurol       Date:  1977-10-07       Impact factor: 4.849

9.  Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Authors:  Phillipa J Lamont; William Wallefeld; David Hilton-Jones; Bjarne Udd; Zohar Argov; Alexandru C Barboi; Carsten Bonneman; Kym M Boycott; Kate Bushby; Anne M Connolly; Nicholas Davies; Alan H Beggs; Gerald F Cox; Jahannaz Dastgir; Elizabeth T DeChene; Rebecca Gooding; Heinz Jungbluth; Nuria Muelas; Johanna Palmio; Sini Penttilä; Eric Schmedding; Tiina Suominen; Volker Straub; Christopher Staples; Peter Y K Van den Bergh; Juan J Vilchez; Kathryn R Wagner; Patricia G Wheeler; Elizabeth Wraige; Nigel G Laing
Journal:  Hum Mutat       Date:  2014-05-21       Impact factor: 4.878

Review 10.  Myosinopathies: pathology and mechanisms.

Authors:  Homa Tajsharghi; Anders Oldfors
Journal:  Acta Neuropathol       Date:  2012-08-05       Impact factor: 17.088
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