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TitleDateReferenceAuthorsCall #ISSN
A common haploytype associated with the Basque 2362AG -> TCATCT mutation in the muscular calpain-3 gene 2004 Human biology 76 (5): 731-41
  • Ametz Sáenz
  • Ana Maria Cobo
  • Begona Indakoetkxea
  • Juan Jose Poza
  • Miguel Urtasun
 H6/HB [HUMAN-] 0018-7143
Skeletal atrophy and the problem of the differential diagnosis of conditions causing paralysis 2002 Antropologia portuguesa 19 (): 5-17
  • Don Brothwell
  • Sue Browne
 H6 'ANTROPOLOGIA-' 0970-0990
Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of "mdx" mice 1993 Nature 361 (): 647-50
  • T Ragot
Overexpression of dystrophin in transgenic "mdx" mice eliminates dystrophic symptoms without toxicity [with comments by HM Blau, see above] 1993 Nature 364 (): 725-9
  • GregoryA Cox
Muscular dystrophy: muscling in on gene therapy [comments on GA Cox and others, see below] 1993 Nature 364 (): 673-5
  • H M Blau
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy 1992 Nature 355 (): 547-8
  • Jessica Buxton
Human genetics: the costs of instability 1992 Nature 356 (): 15
  • K E Davies
Common sequence motifs at the rearrangement sites of a constitutional X-autosome translocation and associated deletion 1992 American Journal of human genetics 50 (4): 725-41
  • J P Giacalone
  • U Francke
Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation 1992 Nature 356 (): 435-8
  • E Gussoni
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy 1992 Nature 355 (): 545-6
  • H G Harley
A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane 1992 American Journal of human genetics 50 (3): 508-14
  • T R Helliwell
Somatic reversion-suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers 1992 American Journal of human genetics 50 (5): 950-9
  • C J Klein
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy 1992 Nature 359 (): 320-2
  • K Matsumura
Congenital myotonic dystrophy and mtDNA [comments on MC Koch and others in "Amer J hum Genet" 1991 (48:6) 1084-91; with reply by Koch and others, see above] 1992 American Journal of human genetics 50 (3): 651
  • J Poulton
Informative microsatellite markers allow carrier detection in a Duchenne muscular dystrophy deletion pedigree in the absence of DNA from an affected boy 1992 American Journal of human genetics 50 (2): 448-9
  • E A Haan
  • K Friend
  • R I Richards
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q 1992 American Journal of human genetics 50 (6): 1211-17
  • M C Speer
Cloning of the essential myotonic dystrophy region and mapping of the putative defect 1992 Nature 355 (): 548-51
  • C Aslanidis
Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene 1991 Human heredity 41 (6): 364-9
  • M Wehnert
Estimate of the intrafamilial correlation for serum creatine kinase and pyruvate kinase in females at risk for Duchenne and Becker muscular dystrophies 1991 Human heredity 41 (6): 370-8
  • E Rabbi-Bortolini
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