标题
From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies
作者
关键词
-
出版物
Skeletal Muscle
Volume 1, Issue 1, Pages 24
出版商
Springer Nature
发表日期
2011-06-25
DOI
10.1186/2044-5040-1-24
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy
- (2011) Yuji Hara et al. NEW ENGLAND JOURNAL OF MEDICINE
- Muscular dystrophies: an update on pathology and diagnosis
- (2010) Caroline A. Sewry ACTA NEUROPATHOLOGICA
- Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle
- (2010) Lars Klinge et al. MUSCLE & NERVE
- Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations
- (2010) Anna Rajab et al. PLoS Genetics
- Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy
- (2009) Lucie Gueneau et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Myofibrillar Myopathies: A Clinical and Myopathological Guide
- (2009) Rolf Schröder et al. BRAIN PATHOLOGY
- Caveolinopathies: from the biology of caveolin-3 to human diseases
- (2009) Elisabetta Gazzerro et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
- (2009) Yukiko K. Hayashi et al. JOURNAL OF CLINICAL INVESTIGATION
- Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes
- (2009) M. Fanin et al. NEUROLOGY
- Immune-mediated rippling muscle disease with myasthenia gravis: A report of seven patients with long-term follow-up in two
- (2009) Benedikt Schoser et al. NEUROMUSCULAR DISORDERS
- Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A
- (2009) Richard Charlton et al. NEUROMUSCULAR DISORDERS
- A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity
- (2008) Cecilia Jimenez-Mallebrera et al. BRAIN PATHOLOGY
- Sarcolemma-localized nNOS is required to maintain activity after mild exercise
- (2008) Yvonne M. Kobayashi et al. NATURE
- A refined diagnostic algorithm for Bethlem myopathy
- (2008) D. Hicks et al. NEUROLOGY
- Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?
- (2008) Lars Klinge et al. NEUROMUSCULAR DISORDERS
- Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
- (2008) Montse Olivé et al. NEUROMUSCULAR DISORDERS
- Muscular dystrophies due to glycosylation defects
- (2008) Francesco Muntoni et al. Neurotherapeutics
- Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis
- (2007) Harriet P. Lo et al. NEUROMUSCULAR DISORDERS
- Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques
- (2007) Hanna K. Kolski et al. NEUROPATHOLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search