CARSTEN G BONNEMANN
Affiliation: National Institutes of Health
- The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathyCARSTEN G BONNEMANN
Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke NIH, Bethesda, MD 20892 3705, USA
Handb Clin Neurol 101:81-96. 2011..A genetic spectrum is emerging, with BM being caused mostly by dominantly acting mutations, although rarely recessive inheritance of BM is also possible, whereas both dominantly as well as recessively acting mutations underlie UCMD...
- Diagnostic approach to the congenital muscular dystrophiesCARSTEN G BONNEMANN
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States Electronic address
Neuromuscul Disord 24:289-311. 2014..It will be helpful in suspecting a specific CMD subtype in order to prioritize testing to arrive at a final genetic diagnosis. ..
- Genotype-phenotype correlations in recessive RYR1-related myopathiesKimberly Amburgey
Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109 2200, USA
Orphanet J Rare Dis 8:117. 2013..To date, no clear patterns have been identified in these recessive mutations, though no systematic examination has yet been performed...
- The collagen VI-related myopathies: muscle meets its matrixCARSTEN G BONNEMANN
National Institutes of Health, PO Box 5801, Bethesda, MD 20824, USA
Nat Rev Neurol 7:379-90. 2011....
- Umbilical cord blood transplantation for juvenile metachromatic leukodystrophyTyler Mark Pierson
Division of Neurology, Children s Hospital of Philadelphia, Philadelphia, PA 20892 3705, USA
Ann Neurol 64:583-7. 2008..To our knowledge, this report is the first to document neurological outcome of metachromatic leukodystrophy treated by umbilical cord blood transplantation...