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AK Lampe

Observed names: A K Lampe, A. K. Lampe, A. Lampe, A.K. Lampe, Anne Lampe, Lampe Ak
OpenAlex ID: A5113537752
Collagen VI related muscle disorders
2005 · A K Lampe, K M D Bushby · Journal of Medical Genetics · 395
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A refined diagnostic algorithm for Bethlem myopathy
2008 · D. Hicks, A. K. Lampe, et al. · Neurology · 88
The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations
2004 · G Turner, KM Lower, et al. · Clinical Genetics · 74
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue
2008 · D. Hicks, A. K. Lampe, et al. · Brain · 40
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Borjeson-Forssman-Lehmann Syndrome and Multiple Pituitary Hormone Deficiency
2003 · G. Birrcll, A. Lampe, et al. · Journal of Pediatric Endocrinology and Metabolism · 19
Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma
2002 · A K Lampe · Archives of Disease in Childhood · 18
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Bethlem myopathy, autosomal dominant and X-linked Emery Dreifuss muscular dystrophy - comparison of contractural phenotypes
2005 · Anne Lampe, JE Hoogendijk, et al. · Newcastle University ePrints (Newcastle Univesity) · 2
Heterozygous loss-of-function ACTB mutations result in a novel developmental syndrome
2017 · Sara Cuvertino, Helen M. Stuart, et al.
Exploring the role of collagen VI in muscular dystrophy.
2010 · Lampe Ak · Europe PMC (PubMed Central)
EM.P.4.05 Bethlem myopathy; new insights on prevalence, phenotypic variability and genetic heterogeneity
2009 · J. Collins, D. Hicks, et al. · Neuromuscular Disorders
T.O.1 Cyclosporin A as a potential treatment for collagen VI-related muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue
2008 · D. Hicks, A.K. Lampe, et al. · Neuromuscular Disorders
Production, secretion and immunolabelling of collagen VI in patients with recessive and dominant mutations in COL6 genes
2005 · C Jimenez-Mallebrera, SC Brown, et al. · UCL Discovery (University College London)
Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 3
2004 · Anne Lampe, F Muntoni, et al. · UCL Discovery (University College London)
Normal collagen VI immunolabelling in Ullrich congenital muscular dystrophy with COL6 mutations
2004 · C Jimenez-Mallebrera, M Maioli, et al. · UCL Discovery (University College London)
Rapid direct sequence analysis of the three genes encoding collagen VI
2003 · Anne Lampe, DM Dunn, et al. · UCL Discovery (University College London)
A family with Ullrich-like congenital muscular dystrophy unlinked to the collagen 6A genes
2002 · Anne Lampe, M Brockington, et al. · UCL Discovery (University College London)
Ullrich-like congenital muscular dystrophy without linkage to collagen VI
2002 · Anne Lampe, N Leonard, et al. · UCL Discovery (University College London)
Works count: 20
Citation count: 636
H-index: 6
I10-index: 6
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