Pages that link to "Q33685609"
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The following pages link to Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population (Q33685609):
Displaying 50 items.
- Facioscapulohumeral dystrophy: the path to consensus on pathophysiology (Q21195884) (← links)
- Prevalence of neurogenetic disorders in the North of England (Q26784050) (← links)
- Congenital muscular dystrophy: from muscle to brain (Q27023097) (← links)
- A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish (Q27301818) (← links)
- Quality improvement in neurology: muscular dystrophy quality measures (Q27348818) (← links)
- Congenital muscular dystrophies: a brief review (Q28255519) (← links)
- Prevalence of congenital muscular dystrophy in Italy: a population study (Q28256516) (← links)
- Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational (Q28485060) (← links)
- A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16 (Q28505521) (← links)
- Dysferlin quantification in monocytes for rapid screening for dysferlinopathies (Q30144043) (← links)
- The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review (Q30234649) (← links)
- Diagnostic approach to the congenital muscular dystrophies (Q30767612) (← links)
- Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR). (Q30832937) (← links)
- MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. (Q31019878) (← links)
- Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. (Q33558590) (← links)
- Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review). (Q33608787) (← links)
- The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research (Q33627845) (← links)
- A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy (Q33685709) (← links)
- Human adipose-derived stem cell transplantation as a potential therapy for collagen VI-related congenital muscular dystrophy (Q33745931) (← links)
- Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts (Q33834776) (← links)
- Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy (Q33840898) (← links)
- Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. (Q33869164) (← links)
- A multi-source approach to determine SMA incidence and research ready population (Q33885457) (← links)
- Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. (Q33943919) (← links)
- Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report (Q34013321) (← links)
- The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy (Q34178677) (← links)
- Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association o (Q34386584) (← links)
- Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. (Q34529706) (← links)
- Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis (Q34779932) (← links)
- Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study (Q34963315) (← links)
- Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice (Q35057217) (← links)
- Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy (Q35094699) (← links)
- Congenital myopathies: Natural history of a large pediatric cohort (Q35106557) (← links)
- ColVI myopathies: where do we stand, where do we go? (Q35290709) (← links)
- Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial (Q35668084) (← links)
- Prevalence of Duchenne and Becker muscular dystrophies in the United States (Q35770545) (← links)
- ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases (Q35787376) (← links)
- Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy (Q35859588) (← links)
- Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy (Q35888648) (← links)
- Dystrophin-compromised sarcoglycan-δ-knockout diaphragm requires full wild-type embryonic stem cell reconstitution for correction (Q35941963) (← links)
- A national profile of health care and family impacts of children with muscular dystrophy and special health care needs in the United States (Q36161109) (← links)
- Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation. (Q36254120) (← links)
- Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease (Q36532577) (← links)
- Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. (Q36729177) (← links)
- Disease burden of spinal muscular atrophy in Germany (Q36871807) (← links)
- Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs) (Q37051511) (← links)
- Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry (Q37056729) (← links)
- Rare disease clinical trials: Power in numbers (Q37154307) (← links)
- The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases (Q37285058) (← links)
- Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis (Q37345612) (← links)