*  Physical Medicine and Rehabilitation for Limb-Girdle Muscular Dystrophy Follow-up: Further Outpatient Care, Complications,...
The earliest descriptions of limb-girdle weakness are ascribed to Leyden and Möbius in 1876 and 1879, respectively. They ... Siciliano G, Simoncini C, Giannotti S, Zampa V, Angelini C, Ricci G. Muscle exercise in limb girdle muscular dystrophies: ... identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. ... Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet ...
  https://emedicine.medscape.com/article/313515-followup
*  Limb Girdle Muscular Dystrophies - Muscular Dystrophy - Fitness VIP
Limb Girdle Muscular Dystrophies. Tue, 29 May 2012 , Muscular Dystrophy Limb-girdle muscular dystrophy (LGMD) is a rare ... Besides the characteristic presentation of weakness in the proximal limbs and shoulder or pelvic girdles, the subtypes of LGMD ...
  https://www.fitness-vip.com/muscular-dystrophy/limbgirdle-muscular-dystrophies.html
*  Limb-girdle muscular dystrophy - Wikipedia
update 2012 MedlinePlus Encyclopedia Limb-girdle muscular dystrophies http://patient.info/doctor/limb-girdle-muscular-dystrophy ... Limb-girdle muscular dystrophy is explained in terms of gene, locus, OMIM and type as follows: Treatment for limb-girdle ... Limb-girdle muscular dystrophy (LGMD) or Erb's muscular dystrophy is a genetically and clinically heterogeneous group of rare ... The diagnosis of limb-girdle muscular dystrophy can be done via muscle biopsy, which will show the presence of muscular ...
  https://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy
*  Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C - Full Text View -...
Muscular Dystrophies. Muscular Dystrophies, Limb-Girdle. Sarcoglycanopathies. Muscular Disorders, Atrophic. Muscular Diseases. ... Muscular Dystrophy Limb-girdle Muscular Dystrophy Limb-girdle Muscular Dystrophy Type 2A Limb-girdle Muscular Dystrophy, Type ... Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C. The safety and scientific ... Limb Girdle Muscular Dystrophy Type 2C Gamma-sarcoglycanopathy Biological: AAV1-gamma-sarcoglycan vector injection Phase 1 ...
  https://clinicaltrials.gov/ct2/show/NCT01344798?term=gene+therapy%5BALL-FIELDS%5D&rank=20
*  Molecular Genetics of LimbGirdle Muscular Dystrophies
... girdle muscular dystrophies (LGMDs) area group of genetically heterogeneous neuromuscular disorders caused by specific protein ... defects in muscle fibres and characterised by predominant weakness and wasting in proximal limb and axial muscles ... Keywords: LGMD; autosomal‐dominant limbgirdle muscular dystrophy; autosomal‐recessive limbgirdle muscular dystrophy; muscle ... 2013) Limbgirdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain 136 (Pt 5): 1508-1517. ...
  http://www.els.net/WileyCDA/ElsArticle/refId-a0022407.html
*  A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces...
Muscular Dystrophies / genetics*, metabolism. Myoblasts / metabolism. Signal Transduction. src-Family Kinases / metabolism*. ... lead to a form of autosomal dominant muscular dystrophy referred to as limb girdle muscular dystrophy type 1C (LGMD-1C). One of ... A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces ...
  http://www.biomedsearch.com/nih/caveolin-3-mutant-that-causes/14600260.html
*  ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies - UCL Discovery
ISPD gene in milder dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy ... Muscular Dystrophies, Muscular Dystrophies, Limb-Girdle, Mutation, Nucleotidyltransferases, Young Adult. UCL classification:. ... ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain , 136 (1) 269 -281. 10.1093/ ... ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies ...
  http://discovery.ucl.ac.uk/1382739/
*  Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel | The University of Chicago Genetic Services
Limb girdle muscular dystrophies is a term generally used to describe progessive weakness and wasting restricted to the limb ... Our Limb Girdle Muscular Dystrophy Sequencing Panel includes all of the following 25 genes: MYOT, LMNA, CAV3, DES, DNAJB6, FLNC ...
  http://dnatesting.uchicago.edu/tests/limb-girdle-muscular-dystrophy-deletionduplication-panel
*  Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O -...
Limb-girdle muscular dystrophy type 2O (LGMD2O) belongs to a group of rare muscular dystrophies named dystroglycanopathies, ... Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O ...
  https://repository.uantwerpen.be/link/irua/101093
*  Muscular Dystrophy, Limb-Girdle, Type 2a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies. ... Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb ... Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular ... Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb ...
  https://www.malacards.org/card/muscular_dystrophy_limb_girdle_type_2a?search=
*  POMT1 gene - Genetics Home Reference
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg ... the most severe form of a group of disorders known as congenital muscular dystrophies. Individuals with Walker-Warburg syndrome ... Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet. 2012 Dec;20(12): ... Mutations in the POMT1 gene are also involved in less severe forms of muscular dystrophy, including muscle-eye-brain disease ...
  https://ghr.nlm.nih.gov/gene/POMT1
*  Noninflammatory Muscle Disorders (Bertorini) Flashcards by Jennifer Watson | Brainscape
various Limb-girdle muscular dystrophies 47 mutation causes lack of dystrophin Duchenne's Muscular Dystrophy. FRAMESHIFT ... muscular dystrophies. myotonic dystrophies Some are caused by abnormalities or deficiencies of the muscle membrane or nuclear ... muscular dystrophies. Some are caused by abnormalities or deficiencies of the muscle membrane or nuclear proteins; e.g., ... becker's muscular dystrophy (not a complete absence of dysrophi, just reduced levels) ...
  https://www.brainscape.com/flashcards/noninflammatory-muscle-disorders-bertorin-1251458/packs/2390206
*  2 - Muscular Dystrophy Flashcards by Victor Forcadela | Brainscape
What are limb-girdle muscular dystrophies?. *Progressive muscle weakness and hypertrophy, proximal first ...
  https://www.brainscape.com/flashcards/2-muscular-dystrophy-6065360/packs/9103632
*  MRI on Persons With Mutations in POMT2 Gene (LGMD2N) - Full Text View - ClinicalTrials.gov
Muscular Dystrophy Limb-girdle Muscular Dystrophy Limb-girdle Muscular Dystrophy Type 2A ... Muscular Dystrophies. Muscular Dystrophies, Limb-Girdle. Muscular Disorders, Atrophic. Muscular Diseases. Musculoskeletal ... Genetics Home Reference related topics: Limb-girdle muscular dystrophy MedlinePlus related topics: Genes and Gene Therapy ... Original Query: 'Muscular Dystrophies, Limb-Girdle' , Last update posted in the last 1000 days ...
  https://clinicaltrials.gov/ct2/show/NCT02759302?cond=%22Muscular+Dystrophies%2C+Limb-Girdle%22&lup_s=12%2F19%2F2014&lup_d=1000
*  PSMD7 - Wikipedia
Mathews, KD; Moore, SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78- ... Muscular dystrophies and several rare forms of neurodegenerative diseases associated with dementia. As part of the Ubiquitin- ...
  https://en.wikipedia.org/wiki/PSMD7
*  PSMB10 - Wikipedia
Mathews KD, Moore SA (Jan 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78-85. ... Muscular dystrophies and several rare forms of neurodegenerative diseases associated with dementia. As part of the Ubiquitin- ... Kasthuri SR, Umasuthan N, Whang I, Lim BS, Jung HB, Oh MJ, Jung SJ, Yeo SY, Kim SY, Lee J (Aug 2014). "Molecular ... Kasthuri SR, Umasuthan N, Whang I, Lim BS, Jung HB, Oh MJ, Jung SJ, Yeo SY, Kim SY, Lee J (Aug 2014). "Molecular ...
  https://en.wikipedia.org/wiki/PSMB10
*  Proteasome (prosome, macropain) subunit, alpha 1 - Wikipedia
Mathews KD, Moore SA (January 2003). "Limb-girdle muscular dystrophy". Current Neurology and Neuroscience Reports. 3 (1): 78-85 ... Muscular dystrophies and several rare forms of neurodegenerative diseases associated with dementia. As part of the Ubiquitin- ...
  https://en.wikipedia.org/wiki/Proteasome_(prosome,_macropain)_subunit,_alpha_1
*  autosomal recessive limb-girdle muscular dystrophy type 2A Disease Ontology Browser - DOID:0110275
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Leyden-Moebius muscular dystrophy; LGMD2A; limb-girdle muscular dystrophy due to calpain deficiency; muscular dystrophy, limb-girdle, type 2A; pelvofemoral muscular dystrophy; primary calpainopathy
  http://www.informatics.jax.org/disease/253600
*  SGCA gene - Genetics Home Reference
More than 70 mutations in the SGCA gene have been identified in people with limb-girdle muscular dystrophy type 2D. Limb-girdle muscular dystrophy is a group of related disorders characterized by muscle weakness and wasting, particularly in the shoulders, hips, and limbs. Forms of limb-girdle muscular dystrophy caused by gene mutations that affect the sarcoglycan complex are called sarcoglycanopathies.. The most common SGCA gene mutation occurs in about one-third of people with limb-girdle muscular dystrophy ...
  https://ghr.nlm.nih.gov/gene/SGCA
*  UMD-DYSF, a novel locus specific database for the compilation and interactive...
In 1998, the groups of Robert H. Brown Jr. [Liu et al., 1998] and Kate Bushby [Bashir et al., 1998] identified the genetic cause of the autosomal recessive muscle-wasting diseases Miyoshi myopathy (MIM# 254130), and Limb Girdle Muscular Dystrophy type 2B (LGMD2B; MIM# 253601) as resulting from mutations in a novel gene on chromosome 2p13. The encoded protein was named dysferlin (DYSF; MIM# 603009), relating to its involvement in muscular dystrophy, and homology with the C. elegans fer-1 protein. Using membrane repair assays on muscle fibers from dysferlin-deficient mouse models, the groups of Paul McNeil/Kevin Campbell [Bansal et al., 2003] and Robert H. Brown Jr. [Lennon et al., 2003] subsequently demonstrated a central role for dysferlin in sarcolemmal repair after membrane injury. This established Miyoshi myopathy and LGMD2B as the first ...
  http://onlinelibrary.wiley.com/doi/10.1002/humu.22015/full
*  "Homologous Recombination Mediates Functional Recovery of Dysferlin Def" by William E. Grose, K. Reed Clark et al.
The dysferlinopathies comprise a group of untreatable muscle disorders including limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment syndrome, and rigid spine syndrome. As with other forms of muscular dystrophy, adeno-associated virus (AAV) gene transfer is a particularly auspicious treatment strategy, however the size of the DYSF cDNA (6.5 kb) negates packaging into traditional AAV serotypes known to express well in muscle (i.e. rAAV1, 2, 6, 8, 9). Potential advantages of a full cDNA versus a mini-gene include: maintaining structural-functional protein domains, evading protein misfolding, and avoiding novel epitopes that could be immunogenic. AAV5 has demonstrated unique plasticity with regards to packaging capacity and recombination of virions containing homologous regions of cDNA inserts has been ...
  http://escholarship.umassmed.edu/neuro_pp/417/
*  Limb-girdle muscular dystrophies - international collaborations for translational research
Authors. Rachel Thompson & Volker Straub. Journal. Nature Reviews Neurology, Publication date. April 2016. Abstract. The limb-girdle muscular dystrophies (LGMDs) are a diverse group of genetic neuromuscular conditions that usually manifest in the proximal muscles of the hip and shoulder girdles. Since the identification of the first gene associated with the phenotype in 1994, an extensive body of research has identified the genetic defects responsible for over 30 LGMD subtypes, revealed an increasingly varied phenotypic spectrum, and exposed the need to move towards a systems-based understanding of the molecular pathways affected. New sequencing technologies, including whole-exome and whole-genome sequencing, are continuing to expand the range of genes and phenotypes associated with the LGMDs, and new computational ...
  http://rd-neuromics.eu/publication/limb-girdle-muscular-dystrophies-international-collaborations-for-translational-research/
*  Limb-girdle muscular dystrophy, type 2B | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Limb-girdle muscular dystrophy, type 2B
  https://rarediseases.info.nih.gov/diseases/8574/limb-girdle-muscular-dystrophy-type-2b
*  DYSF Full-Length MS Protein Standard - Creative Proteomics
DYSF Full-Length MS Protein Standard (NP_001124459), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. ...
  https://www.creative-proteomics.com/product/detail-cpfl326456_7506.htm
*  Muscular Dystrophy in Adults: Symptoms and Treatment | artplay-katok.ru
Limb-girdle muscular dystrophy causes weakening of the muscles and a loss of muscle bulk. This type of muscular dystrophy normally begins in your shoulders and hips, but it might likewise take place in your legs and neck. You may discover it hard to get up from a chair, pace stairs, and bring heavy products if you have limb-girdle muscular dystrophy. You may likewise stumble and fall more easily.. Limb-girdle muscular dystrophy affects both males and women. The majority of people with this kind of muscular dystrophy are disabled by age 20. Nevertheless, many ...
  http://artplay-katok.ru/muscular-dystrophy-adults/
*  Similar papers for Myotilinopathy: refining the clinical and myopathological phenotype. - Semantic Scholar
Mutations in myotilin gene (MYOT) have been associated with variable syndromes including limb girdle muscular dystrophy type 1A (LGMD1A) and a subgroup of myofibrillar myopathy (MFM/MYOT). We studied six Spanish patients from three unrelated kindreds and seven patients without family history. Three previously reported and two novel disease-associated MYOT mutations were identified in this group of patients. The disease is characterized by the onset at the age of 42-77 years with muscle weakness initially in distal or proximal leg muscles, eventually spreading to other muscle groups of the lower and upper extremities. Associated signs of cardiomyopathy, respiratory failure and peripheral neuropathy are present in a fraction of patients. Myopathological features of focal myofibrillar destruction resulting in intracytoplasmic deposits, strongly immunoreactive to myotilin, multiple rimmed and ...
  https://www.semanticscholar.org/paper/Myotilinopathy-refining-the-clinical-and-myopathol-Oliv%C3%A9-Goldfarb/e873c497dcbb2dc1bc38de9bd977bbe42e844ef7?tab=relatedPapers
*  Novel mutations in three patients with LGMD2C with phenotypic differences.
Limb-girdle muscular dystrophy type 2C is an autosomal-recessive disorder caused by mutations in gamma-sarcoglycan encoding gene. This disease is characterized by childhood onset of progressive muscular dystrophy. Because of the clinical presentation, this disorder may be misdiagnosed as a dystrophinopathy. Two males (Patients A and B) from one Turkish family and one male (Patient C) from a Moroccan family had progressive walking disturbances for several years, exercise intolerance, and leg pains. Clinical examination revealed limb-girdle weakness and calf hypertrophy. Serum creatine kinase levels ranged from 1100 to 19000 U/L. The initial findings and course of the disease were less severe in Patient B compared with his brother (Patient A) at the same age. By means of ...
  http://repository.ubn.ru.nl/handle/2066/58822
*  Clinical Outcome Study for Dysferlinopathy - Full Text View - ClinicalTrials.gov
The 'Clinical Outcome Study for Dysferlinopathy' is being performed in centres in Europe (UK- Newcastle; Spain- Barcelona, Sevilla; Germany- Berlin, Munich; Italy- Padova; France- Paris, Marseille), USA (Charlotte, NC; Columbus, OH; Washington, DC; St.Louis, MO, Stanford CA), Japan (Tokyo) and Australia (Sydney). Oversight and funding for this study is being provided by the Jain Foundation, a non-profit foundation dedicated to finding therapies for dysferlinopathies(LGMD2b/Miyoshi). The aim of this 'Clinical Outcome Study' is to determine the clinical outcome measures required for future clinical trials, characterize the disease progression of dysferlinopathy and collect biological samples for the identification of disease markers that are needed to non-invasively monitor the disease during clinical trials. Without this information, effective clinical trials cannot be performed.. This study is recruiting a large number of genetically confirmed dysferlinopathy patients aged 10 years or older, who ...
  https://clinicaltrials.gov/show/NCT01676077
*  Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy - Full Text View - ClinicalTrials.gov
There are many types of muscular dystrophies, all of which are progressive, degenerative genetic disorders. One type is Becker's muscular dystrophy, which involves slowly worsening muscle weakness of the legs and pelvis and which can lead to cardiomyopathy, deformities, respiratory failure, and permanent disability. Limb-girdle muscular dystrophy, another type, is also characterized by progressive muscle weakness, first affecting the muscles around the shoulder girdle and hips and possibly affecting other muscles as the disorder progresses. Complications of limb-girdle muscular dystrophy can include abnormal heart rhythms, joint ...
  https://clinicaltrials.gov/ct2/show/NCT00873782?cond=%22limb-girdle+muscular+dystrophy%22&rank=6
*  Limb-girdle muscular dystrophy autosomal dominant
LGMD-diagnosis.org LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).. ...
  http://www.diseaseinfosearch.org/result/4231
*  ACHOCH'S JOURNEY: My Beckers Story: Eva's journey with Limb-Girdle Muscular Dystrophy
Having been diagnosed with LGMD at the age of 14 I did not know much about the condition. I grew up seeing my strength decline, I knew I had ...
  http://achochsjourney.blogspot.com/2014/08/my-beckers-story-evas-journey-with-limb.html
*  ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
PubMed Central Canada (PMC Canada) provides free access to a stable and permanent online digital archive of full-text, peer-reviewed health and life sciences research publications. It builds on PubMed Central (PMC), the U.S. National Institutes of Health (NIH) free digital archive of biomedical and life sciences journal literature and is a member of the broader PMC International (PMCI) network of e-repositories.
  http://pubmedcentralcanada.ca/pmcc/articles/PMC3562076/?lang=en-ca
*  en.uswr.ac.ir - Prof. Kimia Kahrizi
Kimia Kahrizi MD: - Iran Medical Sciences University. Professor. Research Interests. Dr. Kahrizi is Professor of Pediatrics, Clinical Genetics and the head of the Clinical Genetic Division at the GRC. She has led a number of valuable research projects in neuromuscular disorders such as Myotonic Dystrophy, Limb Girdle Muscular dystrophy, Duchene Muscular Dystrophy (DMD) and Congenital Muscular Dystrophy (CMD). She has also been involved in several other important projects such as Hereditary Hearing Loss (HHL) and Mental Retardation. She is an expert in identifying dysmorphic patients as well as novel syndromes. Recently, she has focused her primary research on the characterization of brain malformations and syndromic microcephalic families.. ...
  http://en.uswr.ac.ir/index.jsp?siteid=2&fkeyid=&siteid=2&pageid=970&siteid=2
*  Thomas Hawke
Dr. Hawke's research focus is on the role and regulation of muscle satellite cells, the stem cell population of skeletal muscle, in health and disease states such as diabetes mellitus and limb girdle muscular dystrophy.. Skeletal muscle has an amazing capacity to regenerate following injury. The injury may be induced by a number of factors including heavy exercise, trauma or disease. The regenerative capacity of skeletal muscle is due primarily to a rare population of progenitor cells called muscle satellite cells. These cells have many characteristics of stem cells, including the capacity divide numerous times, self-renew their population and enter a state of quiescence when they are not needed.. The potential of this cell population is tremendous, however, the use of these cells for cell transplantation into patients with myopathies has yielded disappointing results. This is mostly due to ...
  http://fhs.mcmaster.ca/pathology/contact_us/faculty/faculty_bios/hawke.html
*  rs199476335 - SNPedia
Creatine phosphokinase, elevated serum Rippling muscle disease 2 Limb-girdle muscular dystrophy, type 1C not provided not specified ...
  https://www.snpedia.com/index.php/Rs199476335
*  triheptanoin | Quest Magazine Online
This story includes items about: Becker, Duchenne and limb-girdle muscular dystrophies; myasthenia gravis; carnitine palmityl transferase 2 deficiency; inclusion-body myopathy ...
  http://quest.mda.org/category/qmo-content-tags/triheptanoin
*  neuropathology blog: Best Post of August '09: New Edition of Robbins and Cotran Pathologic Basis of Disease released
The neuro chapters were quite an undertaking, trying to incorporate all the progress in neurosciences without making the new edition so big that it's unattractive to medical students. We tried very hard to keep it near the same size, and use more illustrations to keep it concise. One thing that we did throughout the 8th edition is to reduce the discussions of normal histology (only placing some of it where it's necessary to understand the pathology). So normal nerve, muscle, and brain are all removed. That allowed us to introduce more on advances in molecular understanding of all the pathologic processes. We have done that throughout, but in some places removed the text to create [tables] or figures. For example, hereditary sensory and autonomic neuropathies are expanded as a table, and the hereditary motor and sensory neuropathies as a figure with the myelin layers. For the limb-girdle muscular ...
  http://neuropathologyblog.blogspot.com/2009/12/best-post-of-august-09-new-edition-of.html
*  Staff Profile - Institute of Cellular Medicine - Newcastle University
Current Role. Management, planning and coordination of on-going international (Japan, Australia, USA, Europe) muscle imaging and phosphorous spectroscopy studies in Dysferlinopathy and Muscular Dystrophy including Jain, Prosensa, Embassy and Neo1 Studies. These studies are performed in collaboration with the MRC Centre for Neuromuscular Disorders.. Responsible for 13C Spectroscopy management, development and safety within the MR centre and in the Vildagliptin/Novartis drug trial in patients with Type 2 Diabetes and Glyconorm project in healthy controls, collaborating with clinical colleagues across research teams Responsible for the development of multinuclear spectroscopy and imaging detection methods within the MR Centre including Lithium imaging research performed in collaboration with the Institute of Neuroscience. Lead research physicist and collaborator on a grant (April 2014) (, £1,000,000) awarded by the MRC to Dr ...
  http://www.ncl.ac.uk/icm/people/profile/fesmith.html
*  Therapeutic Strategies | jainfoundation.ankurdave.com
Shown in gray below is the chain of events that causes disease in dysferlinopathy patients. In red are potential therapeutic approaches that may block this disease pathway and improve pathology. This is a dynamic illustration that will continue to change with increasing knowledge of dysferlin biology and ideas for novel interventions. and how each strategy blocks the progression of disease. Hover your mouse over the strategies in the diagram for explanations.. Gray = Disease pathway ...
  http://sharing.jain-foundation.org/node/2
*  Dysferlin抗体|Abcam中国|Anti-Dysferlin抗体(ab15108)
Dysferlin兔多克隆抗体(ab15108)可与狗, 人样本反应并经WB, IHC, ICC/IF实验严格验证,被3篇文献引用并得到3个独立的用户反馈。所有产品均提供质保服务,中国75%以上现货。
  http://www.abcam.cn/dysferlin-antibody-ab15108.html