C Bonnemann
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Explore the profile of C Bonnemann including associated specialties, affiliations and a list of published articles.
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Articles
19
Citations
248
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Recent Articles
1.
Servian-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, et al.
Acta Neuropathol
. 2020 Jan;
139(3):565-582.
PMID: 31897643
Protein O-glucosyltransferase 1 (POGLUT1) activity is critical for the Notch signaling pathway, being one of the main enzymes responsible for the glycosylation of the extracellular domain of Notch receptors. A...
2.
Witherspoon J, Vasavada R, Logaraj R, Waite M, Collins J, Shieh C, et al.
Eur J Paediatr Neurol
. 2018 Nov;
23(1):165-170.
PMID: 30449663
Functional tests such as Motor Function Measure-32 (MFM-32), supine to stand, ascend/descend stairs permit the assessment of task-specific motor function in neuromuscular disease (NMD). The 6-min walk test (6MWT), though...
3.
Fan Y, Liu A, Wei C, Yang H, Chang X, Wang S, et al.
Clin Genet
. 2018 Feb;
93(6):1159-1171.
PMID: 29419890
Collagen VI-related myopathy, caused by pathogenic variants in the genes encoding collagen VI, represents a clinical continuum from Ullrich congenital muscular dystrophy (UCMD) to Bethlem myopathy (BM). Clinical data of...
4.
Voermans N, Kempers M, Lammens M, van Alfen N, Janssen M, Bonnemann C, et al.
Am J Med Genet A
. 2012 Mar;
158A(4):850-5.
PMID: 22407744
We here report on a 20-year-old female patient with EDS due to a homozygous CHST14 single nucleotide deletion resulting in D4ST-1 deficiency, accompanied by muscle hypoplasia and muscle weakness. Findings...
5.
Bonnemann C, Giraud P, Eiden L, Meyer D
Neurochem Int
. 2010 May;
10(4):521-4.
PMID: 20501124
The concentrations of mRNA specific for preprocholecystokinin were measured with a hybridisation procedure after its extraction from rat brain samples. mRNA specific for preprocholecystokinin was not consistently found in the...
6.
Altenhoner T, Dorendorf E, Razum O, Hertrich M, Bonnemann C
Z Rheumatol
. 2008 Jul;
68(7):566, 568-74.
PMID: 18633629
Goal: Inpatient health care data are often used as a source of information for health reporting in Germany, despite the fact that a lot of diseases are predominantly treated in...
7.
Jimenez-Mallebrera C, Maioli M, Kim J, Brown S, Feng L, Lampe A, et al.
Neuromuscul Disord
. 2006 Aug;
16(9-10):571-82.
PMID: 16935502
Ullrich congenital muscular dystrophy (UCMD) is caused by recessive and dominant mutations in COL6A genes. We have analysed collagen VI expression in 14 UCMD patients. Sequencing of COL6A genes had...
8.
Brockmann K, Simpson M, Faber A, Bonnemann C, Crosby A, Gartner J
Neuropediatrics
. 2005 Sep;
36(4):274-8.
PMID: 16138254
The hereditary spastic paraplegias (HSPs) are a group of rare disorders with the predominant clinical feature of progressive spastic paraplegia. They are subdivided into pure and complicated forms according to...
9.
Lucioli S, Giusti B, Mercuri E, Vanegas O, Lucarini L, Pietroni V, et al.
Neurology
. 2005 Jun;
64(11):1931-7.
PMID: 15955946
Background: Dominant mutations in COL6A1, COL6A2, and COL6A3, the three genes encoding collagen type VI, a ubiquitous extracellular matrix protein, are associated with Bethlem myopathy (BM) and Ullrich scleroatonic muscular...
10.
Balci B, Wilichowski E, Haliloglu G, Talim B, Aurino S, Kremer E, et al.
Acta Myol
. 2005 Jun;
23(3):154-8.
PMID: 15938573
The term limb-girdle muscular dystrophy (LGMD) refers to a group of muscular dystrophies that, at the outset, affect primarily the muscles of the hip and shoulder girdle. Limb-girdle muscular dystrophy...