نتائج البحث - "Joachim Schessl"

51

دورية أكاديمية

JCB: ARTICLE Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy

المؤلفون: Belinda S. Cowling, Meagan J. Mcgrath, Mai-anh Nguyen, Denny L. Cottle, Anthony J. Kee, Susan Brown, Joachim Schessl, Yaqun Zou, Josephine Joya, Carsten G. B Ö Nnemann, Edna C. Hardeman, Christina A. Mitchell

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/37/60/J_Cell_Biol_2008_Dec_15_183(6)_1033-1048.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.358.7861Test

52

G.P.123 Identification of molecular effects of FHL1 mutations on protein assembly in reducing body myopathy

المؤلفون: Benedikt Schoser, Maggie C. Walter, Stefanie Bulst, Joachim Schessl, Sabine Krause, Johannes Levin, C. Kubny, Armin Giese

المصدر: Neuromuscular Disorders. 22:903

مصطلحات موضوعية: medicine.diagnostic_test, Mutant, Transfection, Biology, Immunofluorescence, Molecular biology, FHL1, Green fluorescent protein, Neurology, Western blot, Heat shock protein, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bcdb8ed2af8aeeec777a4be3051d9b7bTest
https://doi.org/10.1016/j.nmd.2012.06.329Test

53

P5.53 The C224W FHL1 mutation is causing a protein aggregation disorder of muscle: Two brothers revisited

المؤلفون: C. Kubny, Benedikt Schoser, Maggie C. Walter, Frank Hanisch, S. Mueller, Wolfram Kress, Joachim Schessl, S. Feldkirchner

المصدر: Neuromuscular Disorders. 21:740

مصطلحات موضوعية: Genetics, Neurology, Chemistry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), A protein, Neurology (clinical), Genetics (clinical), FHL1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::08e1a1f2b07814d2a70e12251265a1e2Test
https://doi.org/10.1016/j.nmd.2011.06.1082Test

54

P2.42 Cys150Arg FHL1 mutation in two brothers affected by the Emery-Dreifuss muscular dystrophy phenotype

المؤلفون: Joachim Schessl, M. Roig, J. Corbera, Jaume Colomer, C. Jimenez-Mallabrera, S. Feldkirchner, C. Kubny, Cristina Jou, Andrés Nascimento, Carlos Ortez

المصدر: Neuromuscular Disorders. 21:673

مصطلحات موضوعية: Genetics, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, Neurology (clinical), Biology, Emery–Dreifuss muscular dystrophy, medicine.disease, Phenotype, Genetics (clinical), FHL1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b5835e9bb16523d7170edd258672e51dTest
https://doi.org/10.1016/j.nmd.2011.06.864Test

55

C.P.2.04 Skipping of exon 16 in COL6A3 is a recurrent mutation causing severe congenital muscular dystrophy type Ullrich

المؤلفون: Cecilia Jimenez-Mallebrera, Ying Hu, Joachim Schessl, Carsten G. Bönnemann, Kevin M. Flanigan, Yaqun Zou, Annemarie Fock, Francesco Muntoni, K. Bushby, I. Stolte-Dijkstra, Gudrun Schreiber, Mon-Li Chu, Robert B. Weiss, AK Lampe

المصدر: Neuromuscular Disorders. 17:844

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Exon, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Medicine, Recurrent mutation, Neurology (clinical), business, medicine.disease, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c36b6eb20108ddc5075768f029a25cb6Test
https://doi.org/10.1016/j.nmd.2007.06.280Test

56

دورية أكاديمية

Orthodontic Procedures in the Treatment of Obstructive Sleep Apnea in Children.

المؤلفون: Edmund Rose, Joachim Schessl

المصدر: Journal of Orofacial Orthopedics/Fortschritte der Kieferorthopadie; Jan2006, Vol. 67 Issue 1, p58-67, 10p

57

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

المصدر: Monash University

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67348d0f714db1e610a4faf29c14f512Test
https://research.monash.edu/en/publications/f7531d1a-159b-4d78-b92d-3d6159a0c800Test

58

Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other Fhl1-related Disorders

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
ResearcherID

مصطلحات موضوعية: Male, Pathology, Biopsy, DNA Mutational Analysis, Muscle Proteins, Desmin, Muscle hypertrophy, Myotilin, Connectin, Muscular dystrophy, Child, biology, Microfilament Proteins, Intracellular Signaling Peptides and Proteins, Autosomal Emery-Dreifuss Muscular Dystrophy, General Medicine, LIM Domain Proteins, Middle Aged, Muscular Dystrophy, Emery-Dreifuss, Neurology, Female, Titin, medicine.symptom, Adult, Distròfia muscular, medicine.medical_specialty, Adolescent, Immunoelectron microscopy, Article, Pathology and Forensic Medicine, Young Adult, Cellular and Molecular Neuroscience, Muscular Diseases, medicine, Humans, Muscle, Skeletal, Myopathy, Malalties musculars, alpha-Crystallin B Chain, Cardiomyopathy, Hypertrophic, medicine.disease, Muscular diseases, FHL1, Cytoskeletal Proteins, Microscopy, Electron, Mutation, biology.protein, Neurology (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2779ddb9424d37d1fc6ac44b14feb8f1Test
http://hdl.handle.net/2445/126442Test

59

دورية أكاديمية

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

المصدر: Brain: A Journal of Neurology. Feb2009, Vol. 132 Issue 2, p452-452. 1p.

مصطلحات موضوعية: *MUSCLE diseases, *GENETIC mutation, *X chromosome, *ZINC in the body, *GENES, *COHORT analysis, *GENETICS

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