Queen Square Centre for Neuromuscular Diseases
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- Celebration of the life and work of John Morgan Hughes and the discovery of mitochondrial DNA disease A very successful celebration of the life and work of John Morgan Hughes took place at the Royal College of Physicians on the 25th April. Details of the programme and the launch of the John Morgan Hughes fellowship can be found at the following link htpps://www.justgiving.com/John-Morgan-Hughes-Fellowship/
- A business case to develop a Neuromuscular Complex Care Centre has been approved by the UCLH Trust Executive Board
- MRC Centenary Year 2013 - info and events
Annual Channelopathy Patient Information Day
Saturday 22nd June 2013 at Queen Square, London
Annual Mitochondrial Patient Information Day
Saturday 6th July 2013 at Queen Square, London
MSG Scientific Annual Meeting 2013 - Oxford
16-18 September 2013
Free Access Centre Publications
Neuropathy
- Neurology: Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease
- Journal of Neurology: Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
- Journal of Neurology: A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome
- Journal of Neurology: Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia
- Neurology: Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations
- Neuromuscular Disorders: Variable phenotypes are associated with PMP22 missense mutations
Mitochondrial disease
- Brain:Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
- Neuromuscular Disorders: single deletions in mitochondrial DNA - molecular mechanisms and disease phenotypes in clinical practice
IBM
Channelopathy
- Archives of Neurology: Stridor expands the neonatal presentations of skeletal muscle sodium channelopathy
- Current Neurology and Neuroscience Reports: Novel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies
- J
Physiol: Muscle channelopathies does the predicted channel gating pore
offer new treatment insights for hypokalaemic periodic paralysis
- Neuromuscular Disorders: Muscle Channelopathies
- Journal of Medical Genetics: Large-scale calcium channel gene rearrangements in Episodic Ataxia and Hemiplegic Migraine
- Neurobiology: Non-genetic factors influence severity of episodic ataxia type 1
in monozygotic twins - Neurobiology of Disease: Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause Episodic Ataxia type 2
- Neurology: Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype
Muscular dystrophy
- Brain: A founder mutation in Anoctamin 5 is a major cause of Limb Girdle Muscular Dystrophy
- Brain: Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials
- Brain: The non dystrophic myotonias
- Muscle and Nerve: A quantitative measure of handgrip myotonia in non-dystrophic myotonia
- Neurology: Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
- Neurology: Oculopharyngodistal myopathy is a distinct entity - clinical and genetic features of 47 patients
Other
- Br J Hosp Med: The Babinski sign
- Nature Genetics: Mutations in MEGF10, a regulartor of satellite cell myogenesis, cause early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
- Neurology: SEPN1 related myopathies: clinical course in a large cohort of patients
- Neurology: I693T Neonatal Hypotonia Case Report_neurology4_postreview_NT
- Neuromuscular Disorders: Flow cytometry analysis: a quantitative method for collagen VI deficiency screening
- Nucleic Acids Research: Design principles for bifunctional targeted oligonucleotide enhancers of splicing
- Stem Cell Research: Two new protocols to enhance the production and isolation of human induced pluripotent stem cell lines
