Physician
Neurology
Dr. Carsten G. Bonnemann, MD
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Carsten Bonnemann works in the field of Neurology. Dr. Carsten G. Bonnemann is a published doctor and has 72 publications published. The lastest was: 'The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.'
Publications
- Electrical impedance myography discriminates congenital muscular dystrophy from controls.
- Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.
- Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.
- Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of α-Dystroglycan in Cells and Tissues.
- Results of a two-year pilot study of clinical outcome measures in collagen VI-related myopathy and LAMA2-related muscular dystrophy.
- Mosaicism for Dominant Collagen VI Mutations as a Cause for Intra-Familial Phenotypic Variability.
- Rasch Analysis of the Motor Function Measure in Patients with Congenital Muscle Dystrophy and Congenital Myopathy.
- English cross-cultural translation and validation of the NM-Score: a system for motor function classification in patients with neuromuscular diseases.
- Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused by LARGE Mutations.
- Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils.
- Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.
- Approach to the diagnosis of congenital myopathies.
- Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy.
- Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
- Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in human and mice.
- Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
- Chemical shift-based MRI to measure fat fractions in dystrophic skeletal muscle.
- 'Double trouble': Diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia.
- Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders.
- Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
- Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.
- Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia...
- Report on the myomatrix conference april 22-24, 2012, university of nevada, reno, nevada, USA.
- Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel.
- Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
- A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
- Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.
- Consensus statement on standard of care for congenital muscular dystrophies.
- Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
- Congenital muscular dystrophies: toward molecular therapeutic interventions.
- Muscle-Eye-Brain disease.
- Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
- Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.
- Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.
- Linking SMN to SMA: an assay for the rescuer.
- Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy.
- Predominant fiber atrophy and fiber type disproportion in early ullrich disease.
- De novo LMNA mutations cause a new form of congenital muscular dystrophy.
- Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
- Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem.
- Status epilepticus secondary to hypertensive encephalopathy as the presenting manifestation of Guillain-Barré syndrome.
- Congenital muscular dystrophies and the extracellular matrix.
- Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting.
- Limb-girdle muscular dystrophy in childhood.
- Myotubes differentiate optimally on substrates with tissue-like stiffness: pathological implications for soft or stiff microenvironments.
- Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
- The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries.
- New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
- Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation.
- Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies.
- Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
- Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
- Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
- Role of GluR1 in activity-dependent motor system development.
- Subcutaneous sumatriptan in an adolescent with acute posttraumatic headache.
- Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.
- Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
- A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL...
- Genotype-phenotype correlations in recessive RYR1-related myopathies.
- Zebrafish models of collagen VI-related myopathies.
- siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.
- A refined diagnostic algorithm for Bethlem myopathy.
- Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.
- 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands.
- The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
- Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
- LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
- Vertebral artery dissection: issues in diagnosis and management.
- Beta-sarcoglycan gene mutations in Turkey.
- Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.
- Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation duchenne muscular dystrophy.
Schools
AlbertLudwigsUniversitaet Freiburg Medizinische Fakultat
Doctors Specialties
- Neurology
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Education
-
Massachusetts General Hospital -
Albert Ludwigs University Faculty of Medicine
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