Digitale Bibliotheek
Sluiten Bladeren door artikelen uit een tijdschrift
 
Zoeken naar met titel:
ABCDEFGHIJKLMNOPQRSTUVWXYZ

     Tijdschrift beschrijving
       Alle jaargangen van het bijbehorende tijdschrift
         Alle afleveringen van het bijbehorende jaargang
                                       Alle artikelen van de bijbehorende aflevering
 
                             101 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Author index 2011
 21 S1 p. S31-S33
3 p.
 artikel
2 Editorial Board 2011
 21 S1 p. i-
1 p.
 artikel
3 O18 A new mouse model of ALS carrying a point mutation in the mouse Sod1 gene Joyce, P.
 2011
 21 S1 p. S6-
1 p.
 artikel
4 O12 Assessing muscle pathology by MRI in LGMD2I Willis, T.
 2011
 21 S1 p. S4-S5
2 p.
 artikel
5 O08 Characterisation of novel mutations within heat shock protein 27 causing motor axonopathies Innes, A.
 2011
 21 S1 p. S3-
1 p.
 artikel
6 O05 Clinical trials in peripheral neuropathies – where have we got? Hughes, R.
 2011
 21 S1 p. S2-
1 p.
 artikel
7 O06 Contribution of animal models to the pathogenesis and treatment of inherited neuropathies Sereda, M.W.
 2011
 21 S1 p. S2-S3
2 p.
 artikel
8 O02 Developing therapies for human mitochondrial diseases Murphy, M.
 2011
 21 S1 p. S1-
1 p.
 artikel
9 O03 Dysregulation of calcium and mitochondrial function as potential therapeutic targets in muscle disease Duchen, M.R.
 2011
 21 S1 p. S1-S2
2 p.
 artikel
10 O14 Magnetic resonance imaging in the non-dystrophic myotonias Morrow, J.M.
 2011
 21 S1 p. S5-
1 p.
 artikel
11 O16 Mouse models of SMA: implications for the timing and delivery of therapy Talbot, K.
 2011
 21 S1 p. S5-S6
2 p.
 artikel
12 O07 Neuregulin-1 is required for axoglial signalling following peripheral nerve injury to ensure normal re-myelination and functional recovery Flicker, F.R.
 2011
 21 S1 p. S3-
1 p.
 artikel
13 O04 New molecular targets in hereditary neuropathies Timmerman, V.
 2011
 21 S1 p. S2-
1 p.
 artikel
14 O17 Novel insight in muscle and brain involvement in dystroglycanopathies Ackroyd, M.R.
 2011
 21 S1 p. S6-
1 p.
 artikel
15 O15 Outcome measures in the mdx mouse Wells, P.
 2011
 21 S1 p. S5-
1 p.
 artikel
16 O01 Preventing transmission of mitochondrial disease Turnbull, P.M.
 2011
 21 S1 p. S1-
1 p.
 artikel
17 O10 Quantitative magnetic resonance imaging of neuromuscular diseases in adults Thornton, J.S.
 2011
 21 S1 p. S4-
1 p.
 artikel
18 O11 Quantitative MRI in FSHD and DMD Kan, H.
 2011
 21 S1 p. S4-
1 p.
 artikel
19 O13 Skeletal muscle MRI-determined fat fraction and myometric strength in inclusion body myositis and Charcot-Marie-Tooth disease Type 1A Sinclair, C.D.J.
 2011
 21 S1 p. S5-
1 p.
 artikel
20 O09 The Second Morgan-Hughes-Thomas Lecture: The genetics of motor neuron disease: from molecules to medicines Brown Jr., R.H.
 2011
 21 S1 p. S3-S4
2 p.
 artikel
21 P06 AAV-U7snRNA mediated multi exon-skipping for Duchenne muscular dystrophy Goyenvalle, A.
 2011
 21 S1 p. S8-
1 p.
 artikel
22 P45 A clinical study of the hereditary neuropathies due to mutations in the small heat shock proteins Rossor, A.
 2011
 21 S1 p. S18-S19
2 p.
 artikel
23 P40 A family with a TRPV4 related neuropathy displays marked phenotypic variability ranging from profound neuromuscular disability to non-penetrance Aharoni, S.
 2011
 21 S1 p. S17-
1 p.
 artikel
24 P63 A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy Hicks, P.
 2011
 21 S1 p. S24-S25
2 p.
 artikel
25 P22 Age and sex related differences in satellite cell number, proliferation and self renewal Neal, A.
 2011
 21 S1 p. S12-
1 p.
 artikel
26 P54 A3243G – more than just MELAS! Nesbitt, V.
 2011
 21 S1 p. S21-
1 p.
 artikel
27 P48 Analysis of mitochondrial DNA mutant loads in oocytes & preimplantation embryos for the 14709T>C & 14487T>C mtDNA mutations by pyrosequencing Irving, L.
 2011
 21 S1 p. S19-S20
2 p.
 artikel
28 P78 An integrative database for clinical and research studies in neuromuscular diseases Müller, T.
 2011
 21 S1 p. S29-
1 p.
 artikel
29 P74 An MRI study of the effects of metoprolol on in vivo cardiac calcium homeostasis Blain, A.
 2011
 21 S1 p. S28-
1 p.
 artikel
30 P71 A randomised, double-blinded, placebo-controlled pilot study assessing the safety and tolerability of Arimoclomol in sporadic inclusion body myositis (IBM) Machado, P.
 2011
 21 S1 p. S27-
1 p.
 artikel
31 P11 A reduction in the expression of Fukutin-related protein leads to the altered deposition of multiple laminin alpha chains in a mouse model for Muscle Eye Brain disease Ackroyd, M.R.
 2011
 21 S1 p. S9-S10
2 p.
 artikel
32 P28 Assessing the efficacy of Mexiletine in UK patients with non-dystrophic myotonia Rayan, D.L. Raja
 2011
 21 S1 p. S14-
1 p.
 artikel
33 P81 Benefits and adverse effects of glucocorticoids in boys with Duchenne muscular dystrophy: a UK perspective Ricotti, V.
 2011
 21 S1 p. S30-
1 p.
 artikel
34 P38 Charcot-Marie-Tooth disease and related disorders: a natural history study Laurá, M.
 2011
 21 S1 p. S17-
1 p.
 artikel
35 P34 Clinical phenotype and novel mutations in Alsin related motorneuron disease Cirak, S.
 2011
 21 S1 p. S15-S16
2 p.
 artikel
36 P04 Correction of FKRP function via RNA trans-splicing Farmer, S.
 2011
 21 S1 p. S8-
1 p.
 artikel
37 P17 Deposition of the inner limiting membrane in the eye of a mouse model for Muscle Eye Brain disease Whitmore, C.
 2011
 21 S1 p. S11-
1 p.
 artikel
38 P51 Diabetes is a risk factor for hypertension in adults with the m.3243A>G mitochondrial DNA mutation Nesbitt, V.
 2011
 21 S1 p. S20-S21
2 p.
 artikel
39 P52 Diabetes is not a common feature in children with mtDNA disease Nesbitt, V.
 2011
 21 S1 p. S21-
1 p.
 artikel
40 P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle Fratter, C.
 2011
 21 S1 p. S23-
1 p.
 artikel
41 P25 Double-blind, placebo-controlled, parallel group, phase III study comparing dichlorphenamide vs. placebo for the treatment of periodic paralysis (HYP HOP trial) Burge, J.
 2011
 21 S1 p. S13-
1 p.
 artikel
42 P21 ErbB3 binding protein-1 (Ebp1) contributes to the control of proliferation and differentiation in adult muscle satellite cells Figeac, N.
 2011
 21 S1 p. S12-
1 p.
 artikel
43 P50 Exercise training in patients with mitochondrial myopathy: the analysis of COX-intermediate fibres Murphy, J.L.
 2011
 21 S1 p. S20-
1 p.
 artikel
44 P03 Exon skipping and dystrophin restoration in Duchenne muscular dystrophy patients after systemic phosphorodiamidate morpholino oligomer treatment Cirak, S.
 2011
 21 S1 p. S7-S8
2 p.
 artikel
45 P23 Fluorescent receptors to light up the neuromuscular junction Cossins, J.
 2011
 21 S1 p. S12-S13
2 p.
 artikel
46 P44 Frequency and circumstances of falls for adults with Charcot-Marie-Tooth disease Ramdharry, G.M.
 2011
 21 S1 p. S18-
1 p.
 artikel
47 P66 Functional investigation of beta-tropomyosin mutations that cause congenital skeletal myopathies Piers, A.
 2011
 21 S1 p. S25-S26
2 p.
 artikel
48 P19 Generating stable FKRP mutant zebrafish lines with zinc finger nucleases Wood, A.J.
 2011
 21 S1 p. S11-S12
2 p.
 artikel
49 P12 Generation of a new mouse model for therapeutic testing in the dystroglycanopathies Whitmore, C.
 2011
 21 S1 p. S10-
1 p.
 artikel
50 P24 Genetic heterogeneity and mechanisms of phenotypic variability in human skeletal muscle channelopathies – a new S4 mutation not associated with HypoPP Durran, S.
 2011
 21 S1 p. S13-
1 p.
 artikel
51 P43 Genetic modifying factors for the common form of CMT1A due to the chromosome 17 duplication and other causes of CMT1 in non-CMT1A patients Pandraud, A.
 2011
 21 S1 p. S18-
1 p.
 artikel
52 P41 Genetic mutation frequency in patients with hereditary sensory and autonomic neuropathies (HSAN) Murphy, S.M.
 2011
 21 S1 p. S17-S18
2 p.
 artikel
53 P29 Genotype-phenotype correlation and longitudinal study of Andersen-Tawil Syndrome in the UK Rayan, D.L. Raja
 2011
 21 S1 p. S14-
1 p.
 artikel
54 P27 Genotype-phenotype correlation and longitudinal three year natural history study in the non-dystrophic myotonias in the UK Rayan, D.L. Raja
 2011
 21 S1 p. S14-
1 p.
 artikel
55 P02 Human skeletal-muscle derived CD133+ cells as a promising tool for cell therapy of Duchenne muscular dystrophy Asfahani, R.
 2011
 21 S1 p. S7-
1 p.
 artikel
56 P10 Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy Zaharieva, I.
 2011
 21 S1 p. S9-
1 p.
 artikel
57 P33 Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine Webster, R.
 2011
 21 S1 p. S15-
1 p.
 artikel
58 P77 Improved magnetization transfer MRI of skeletal muscle in myopathy and neuropathy Sinclair, C.D.J.
 2011
 21 S1 p. S29-
1 p.
 artikel
59 P70 Inclusion body myositis: a diagnostic challenge Brady, S.
 2011
 21 S1 p. S27-
1 p.
 artikel
60 P16 Investigating novel mutant mouse models of motor neuron disease McGoldrick, P.
 2011
 21 S1 p. S11-
1 p.
 artikel
61 P13 Investigating pathophysiology and therapeutic strategies in a mouse model of spinal and bulbar muscular atrophy (SBMA) Gray, A.
 2011
 21 S1 p. S10-
1 p.
 artikel
62 P69 Investigating the effects of pharmacological up-regulation of the heat shock response on protein degradation pathways in an in-vitro model of sporadic inclusion body myositis Ahmed, M.
 2011
 21 S1 p. S26-S27
2 p.
 artikel
63 P14 In vivo myocardial calcium influx is increased in the delta sarcoglycan deficient mouse model of muscular dystrophy cardiomyopathy. Role of the L-type calcium channel Greally, E.
 2011
 21 S1 p. S10-
1 p.
 artikel
64 P53 Kearns-Sayre syndrome caused by defective R1/p53R2 assembly Pitceathly, R.D.S.
 2011
 21 S1 p. S21-
1 p.
 artikel
65 P30 Large scale chloride channel gene DNA rearrangements are an important cause of recessive myotonia congenitaimplications for diagnostic screening Rayan, D.L. Raja
 2011
 21 S1 p. S14-S15
2 p.
 artikel
66 P49 Manipulation of human abnormally fertilized pronuclear stage zygotes following vitrification Irving, L.
 2011
 21 S1 p. S20-
1 p.
 artikel
67 P35 Microfluidic chambers provide a novel method to study the functional properties of sensory neuron terminals in culture Clark, A.
 2011
 21 S1 p. S16-
1 p.
 artikel
68 P73 Mitochondrial abnormalities in inclusion body myositis Rygiel, K.
 2011
 21 S1 p. S27-S28
2 p.
 artikel
69 P57 Mitochondrial DNA mutations in satellite cells Spendiff, S.
 2011
 21 S1 p. S22-
1 p.
 artikel
70 P58 Mitochondrial respiratory chain enzyme deficiency expressed during muscle development Taanman, J.-W.
 2011
 21 S1 p. S23-
1 p.
 artikel
71 P76 MRI shows increased tibial nerve size in CMT1A Sinclair, C.D.J.
 2011
 21 S1 p. S28-
1 p.
 artikel
72 P75 Muscle MRI findings in LGMD2L Sarkozy, A.
 2011
 21 S1 p. S28-
1 p.
 artikel
73 P47 Mutations in the novel chaperone FOXRED1 cause mitochondrial complex I deficiency Fassone, E.
 2011
 21 S1 p. S19-
1 p.
 artikel
74 P32 Myasthenic crisis in the intensive care unit – a ten year review Spillane, J.E.
 2011
 21 S1 p. S15-
1 p.
 artikel
75 P39 Neurofilament light chain polypeptide gene (NEFL) mutations in autosomal dominant or sporadic Charcot-Marie-Tooth disease Liu, Y.-T.
 2011
 21 S1 p. S17-
1 p.
 artikel
76 P64 Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment Horvath, R.
 2011
 21 S1 p. S25-
1 p.
 artikel
77 P08 Optimal dystrophin mini-construct for gene delivery to skeletal muscle Reza, M.
 2011
 21 S1 p. S9-
1 p.
 artikel
78 P09 Patient-specific viral rescue therapies for Duchenne muscular dystrophy Ritso, M.
 2011
 21 S1 p. S9-
1 p.
 artikel
79 P37 Phenotype in E410K beta-tubulin isotype 3 mutations: striking facial weakness and other extraocular manifestations in addition to CFEOM Gutowski, N.J.
 2011
 21 S1 p. S16-S17
2 p.
 artikel
80 P26 Pyridostigmine-responsive limb-girdle congenital myasthenic syndrome with frequent tubular aggregates Müller, J.
 2011
 21 S1 p. S13-S14
2 p.
 artikel
81 P01 Quantification of exon skipping in Duchenne muscular dystrophy by qRT-PCR Anthony, K.
 2011
 21 S1 p. S7-
1 p.
 artikel
82 P59 Respiratory chain complex I deficiency caused by mitochondrial DNA mutations Taylor, R.W.
 2011
 21 S1 p. S23-
1 p.
 artikel
83 P55 Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease Uusimaa, J.
 2011
 21 S1 p. S22-
1 p.
 artikel
84 P67 SEPN1 related myopathies: Clinical course in a large cohort of patients Scoto, M.
 2011
 21 S1 p. S26-
1 p.
 artikel
85 P31 Synaptic mechanisms in P/Q deficient neuromuscular junctions Spillane, J.E.
 2011
 21 S1 p. S15-
1 p.
 artikel
86 P72 The effects of arimoclomol on pathological outcome measures of inclusion body myositis in vitro Miller, A.
 2011
 21 S1 p. S27-
1 p.
 artikel
87 P07 The feasibility of exon skipping to restore the reading frame in DMD patients with duplications Kim, J.
 2011
 21 S1 p. S8-S9
2 p.
 artikel
88 P20 The host muscle environment has got a profound effect on satellite cell function Boldrin, L.
 2011
 21 S1 p. S12-
1 p.
 artikel
89 P62 The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials Foley, A.R.
 2011
 21 S1 p. S24-
1 p.
 artikel
90 P80 The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK Nesbitt, V.
 2011
 21 S1 p. S29-S30
2 p.
 artikel
91 P79 The natural history of sporadic inclusion body myositis: development of an electronic database IBM net Miller, A.
 2011
 21 S1 p. S29-
1 p.
 artikel
92 P68 The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene Sewry, C.
 2011
 21 S1 p. S26-
1 p.
 artikel
93 P61 The spectrum of genetic defects responsible for congenital fibre type disproportion Feng, L.
 2011
 21 S1 p. S24-
1 p.
 artikel
94 P18 Transient mouse models for the preclinical evaluation of therapeutic dystrophin exon skipping strategies Wilton, S.D.
 2011
 21 S1 p. S11-
1 p.
 artikel
95 P46 Tremor in Charcot-Marie-Tooth disease Saifee, T.A.
 2011
 21 S1 p. S19-
1 p.
 artikel
96 P36 TRPV4 mutations and functional characterisation in a cohort of patients with hereditary neuropathy Fawcett, K.
 2011
 21 S1 p. S16-
1 p.
 artikel
97 P05 Utrophin upregulation in DMD therapy: current status and new tools for the future Fairclough, R.J.
 2011
 21 S1 p. S8-
1 p.
 artikel
98 P65 Whole genome analysis in a family with dominant muscle disease Pitceathly, R.D.S.
 2011
 21 S1 p. S25-
1 p.
 artikel
99 P56 Why does mitochondrial disease progress? From molecular genetics to patient phenotype Ratnaike, T.E.
 2011
 21 S1 p. S22-
1 p.
 artikel
100 P42 X-inactivation pattern in females with CMTX1 Murphy, S.M.
 2011
 21 S1 p. S18-
1 p.
 artikel
101 P15 Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies Lin, Y.-Y.
 2011
 21 S1 p. S11-
1 p.
 artikel
                             101 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland