Francesco Muntoni

Francesco Muntoni

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Francesco Muntoni

Publications by authors named "Francesco Muntoni"

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Balance impairment in pediatric charcot-marie-tooth disease.

Muscle Nerve 2019 Sep 15;60(3):242-249. Epub 2019 May 15.

Children's Hospital of Philadelphia, Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/mus.26500DOI Listing
September 2019

240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands.

Neuromuscul Disord 2019 Sep 16;29(9):704-715. Epub 2019 Jul 16.

School of Biological Sciences, University of Reading, Reading, RG6 6AS, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.07.003DOI Listing
September 2019

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Arch Dis Child 2019 Sep 4. Epub 2019 Sep 4.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA

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http://dx.doi.org/10.1136/archdischild-2019-317910DOI Listing
September 2019

Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood.

Dev Med Child Neurol 2019 Aug 20;61(8):964-971. Epub 2019 Jan 20.

Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/dmcn.14142DOI Listing
August 2019

Muscle biopsies in clinical trials for Duchenne muscular dystrophy - Patients' and caregivers' perspective.

Neuromuscul Disord 2019 Aug 12;29(8):576-584. Epub 2019 Jun 12.

Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.06.004DOI Listing
August 2019

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.

Hum Mol Genet 2019 Jun;28(11):1872-1884

Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse, Basel, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddz025DOI Listing
June 2019

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.

Neuromuscul Disord 2019 Jun 27;29(6):448-455. Epub 2019 Mar 27.

Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.03.011DOI Listing
June 2019

Morpholino-Mediated Exon Inclusion for SMA.

Methods Mol Biol 2018 ;1828:467-477

The Dubowitz Neuromuscular Centre, Molecular Neurosciences Session, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1007/978-1-4939-8651-4_29DOI Listing
April 2019

Therapeutic Aspects in Congenital Myopathies.

Semin Pediatr Neurol 2019 Apr 16;29:71-82. Epub 2019 Jan 16.

The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children, London, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S10719091193000
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http://dx.doi.org/10.1016/j.spen.2019.01.004DOI Listing
April 2019

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy.

J Neurol Neurosurg Psychiatry 2019 Feb 16;90(2):243-245. Epub 2018 May 16.

Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jnnp-2017-317849DOI Listing
February 2019

Electromyography and muscle biopsy in paediatric neuromuscular disorders - Evaluation of current practice and literature review.

Neuromuscul Disord 2019 Jan 31;29(1):14-20. Epub 2018 Oct 31.

Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2018.10.003DOI Listing
January 2019

Publisher Correction: Necroptosis mediates myofibre death in dystrophin-deficient mice.

Nat Commun 2018 10 2;9(1):4107. Epub 2018 Oct 2.

The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.

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http://www.nature.com/articles/s41467-018-06636-w
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http://dx.doi.org/10.1038/s41467-018-06636-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168580PMC
October 2018

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.

Neuromuscul Disord 2018 09 30;28(9):741-749. Epub 2018 Jun 30.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.05.012DOI Listing
September 2018

Necroptosis mediates myofibre death in dystrophin-deficient mice.

Nat Commun 2018 09 7;9(1):3655. Epub 2018 Sep 7.

The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.

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http://www.nature.com/articles/s41467-018-06057-9
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http://dx.doi.org/10.1038/s41467-018-06057-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128848PMC
September 2018

Genetic therapies for inherited neuromuscular disorders.

Lancet Child Adolesc Health 2018 08 27;2(8):600-609. Epub 2018 Jun 27.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S2352-4642(18)30140-8DOI Listing
August 2018

Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.

Epigenomics 2018 07 22;10(7):875-889. Epub 2018 Mar 22.

The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.2217/epi-2018-0022DOI Listing
July 2018

CD133+ cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability.

Stem Cell Res 2018 07 12;30:43-52. Epub 2018 May 12.

Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, 30 Guilford Street, London WC1N 1EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048760PMC
July 2018

Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.

Pediatr Phys Ther 2018 07;30(3):209-215

Departments of Neurology (Drs Salazar, Montes, Young, Chiriboga, and De Vivo) and Rehabilitation and Regenerative Medicine (Drs Montes and Young), Columbia University Medical Center, New York, New York; Departments of Biostatistics and Computational Biology (Dr McDermott) and Neurology (Mr Martens and Dr McDermott), University of Rochester, Rochester, New York; Departments of Neurology (Dr Darras) and Physical Therapy and Occupational Therapy Services (Drs Pasternak and Mirek and Ms Quigley), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Division of Neurology (Dr Tennekoon) and Department of Physical Therapy (Dr Glanzman), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology (Mr Civitello and Dr Finkel), Nemours Children's Hospital, Orlando, Florida; Department of Neurology (Mr Gee, Ms Duong, and Dr Day), Stanford University School of Medicine, Palo Alto, California; Department of Paediatric Neurology (Mss Mazzone, Coratti, and Fanelli, Messrs De Sanctis and Forcina, and Dr Mercuri), Catholic University, Rome, Italy; Dubowitz Neuromuscular Centre (Mss Main and Ramsey and Drs Scoto and Muntoni), UCL Great Ormond Street Institute of Child Health, London, United Kingdom; John Walton Muscular Dystrophy Research Centre (Dr Mayhew and Mr Muni Lofra), Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom.

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http://Insights.ovid.com/crossref?an=00001577-201807000-0001
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http://dx.doi.org/10.1097/PEP.0000000000000515DOI Listing
July 2018

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Nat Rev Neurol 2018 03 2;14(3):151-167. Epub 2018 Feb 2.

The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1038/nrneurol.2017.191DOI Listing
March 2018

Outcome measures in Duchenne muscular dystrophy: sensitivity to change, clinical meaningfulness, and implications for clinical trials.

Dev Med Child Neurol 2018 02 27;60(2):117. Epub 2017 Nov 27.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1111/dmcn.13634DOI Listing
February 2018

Severe persistent injection site reactions after subcutaneous 2'-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy.

Neuromuscul Disord 2018 02 28;28(2):176-177. Epub 2017 Nov 28.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, 30 Guilford Street, London WC1N 1EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.11.015DOI Listing
February 2018

Autoantibodies in juvenile-onset myositis: Their diagnostic value and associated clinical phenotype in a large UK cohort.

J Autoimmun 2017 Nov 26;84:55-64. Epub 2017 Jun 26.

Royal National Hospital for Rheumatic Diseases, Royal United Hospitals Bath NHS Foundation Trust, Upper Borough Walls, Bath, BA1 1RL, UK; Department of Pharmacy and Pharmacology, University of Bath, Claverton Down, Bath, BA2 7AY, UK.

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http://dx.doi.org/10.1016/j.jaut.2017.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656106PMC
November 2017

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide.

Neuromuscul Disord 2017 Nov 10;27(11):1054-1064. Epub 2017 Jul 10.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966173013
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http://dx.doi.org/10.1016/j.nmd.2017.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678293PMC
November 2017

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.

Nat Commun 2017 11 30;8(1):1859. Epub 2017 Nov 30.

NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1038/s41467-017-01486-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709430PMC
November 2017

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.

Nucleic Acid Ther 2017 Oct 10;27(5):251-259. Epub 2017 Aug 10.

4 Central Nervous System and Ophthalmology, Scientific and Regulatory Management Department, Human Medicines Evaluation Division, European Medicines Agency , London, United Kingdom .

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http://dx.doi.org/10.1089/nat.2017.0682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649120PMC
October 2017

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.

J Pediatr 2017 09 26;188:181-185.e6. Epub 2017 Jun 26.

Dubowitz Neuromuscular Center and MRC Center for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1016/j.jpeds.2017.05.081DOI Listing
September 2017

Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy.

Mol Ther Nucleic Acids 2017 Sep 8;8:416-427. Epub 2017 Jul 8.

Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, University College London, Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537204PMC
September 2017

Dystrophinopathies and Limb-Girdle Muscular Dystrophies.

Neuropediatrics 2017 Aug 20;48(4):262-272. Epub 2017 Apr 20.

UCL Great Ormond Street Institute of Child Health, Department of Molecular Neurosciences, Dubowitz Neuromuscular Centre and Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1055/s-0037-1601860DOI Listing
August 2017

Multiple roles of integrin-α3 at the neuromuscular junction.

J Cell Sci 2017 05 6;130(10):1772-1784. Epub 2017 Apr 6.

Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK

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http://jcs.biologists.org/lookup/doi/10.1242/jcs.201103
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http://dx.doi.org/10.1242/jcs.201103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5450193PMC
May 2017

Corrigendum: Response to "Railroading at the FDA".

Nat Biotechnol 2017 05;35(5):481

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http://dx.doi.org/10.1038/nbt0517-481dDOI Listing
May 2017

Ca handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

Semin Cell Dev Biol 2017 04 15;64:201-212. Epub 2016 Jul 15.

Departments of Biomedicine and Anesthesia, Basel University Hospital, 4031 Basel, Switzerland; Department of Life Sciences, General Pathology Section, University of Ferrara, 44100 Ferrara, Italy.

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http://dx.doi.org/10.1016/j.semcdb.2016.07.017DOI Listing
April 2017

Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease.

Molecules 2017 Apr 5;22(4). Epub 2017 Apr 5.

UOL Medical Genetics, University of Ferrara, Ferrara 44121, Italy.

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http://dx.doi.org/10.3390/molecules22040563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154734PMC
April 2017

Genome Editing and Muscle Stem Cells as a Therapeutic Tool for Muscular Dystrophies.

Curr Stem Cell Rep 2017 24;3(2):137-148. Epub 2017 Apr 24.

Embryology, IVF and Reproductive Genetics Group, Institute for Women's Health, University College London, 86-96 Chenies Mews, London, WC1E 6HX UK.

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http://link.springer.com/10.1007/s40778-017-0076-6
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http://dx.doi.org/10.1007/s40778-017-0076-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445179PMC
April 2017

Lentiviral vectors can be used for full-length dystrophin gene therapy.

Sci Rep 2017 03 6;7(1):79. Epub 2017 Mar 6.

UCL Cancer Institute, Paul O 'Gorman Building, University College London, 72 Huntley Street, London, WC1E 6BT, UK.

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http://dx.doi.org/10.1038/s41598-017-00152-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427806PMC
March 2017

Response to "Railroading at the FDA".

Nat Biotechnol 2017 03;35(3):207-209

Centre for Comparative Genomics, Murdoch University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1038/nbt.3819DOI Listing
March 2017

Lentiviral vectors can be used for full-length dystrophin gene therapy.

Sci Rep 2017 03 17;7:44775. Epub 2017 Mar 17.

UCL Cancer Institute, Paul O 'Gorman Building, University College London, 72 Huntley Street, London, WC1E 6BT, UK.

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http://dx.doi.org/10.1038/srep44775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5356018PMC
March 2017

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Hum Mol Genet 2017 01;26(2):320-332

Departments of Biomedicine and Anesthesia, Basel University Hospital, Basel University, Basel, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddw388DOI Listing
January 2017

Noncoding RNAs and Duchenne muscular dystrophy.

Epigenomics 2016 11 7;8(11):1527-1537. Epub 2016 Sep 7.

The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Institute of Child Health, 30 Guildford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.2217/epi-2016-0088DOI Listing
November 2016

Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?

Arch Dis Child 2016 10 31;101(10):957-61. Epub 2016 May 31.

Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/archdischild-2015-308825DOI Listing
October 2016

Survival Motor Neuron (SMN) protein is required for normal mouse liver development.

Sci Rep 2016 10 4;6:34635. Epub 2016 Oct 4.

Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom.

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http://dx.doi.org/10.1038/srep34635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5048144PMC
October 2016

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Neurology 2016 Oct 14;87(15):1607-1612. Epub 2016 Sep 14.

From the MRC Centre for Neuromuscular Diseases (A.H., P.J.T., M.L., M.G.H., J.C.B., H.H., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Department of Human Genetics and Hussman Institute for Human Genomics (M.A.G., S.Z.), Miller School of Medicine, University of Miami; The Genesis Project Foundation (M.A.G.), Miami, FL; The Dubowitz Neuromuscular Centre (F.M., A.Y.M.), UCL Institute of Child Health, London; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norwich, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067545PMC
October 2016

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016.

Neuromuscul Disord 2016 09 7;26(9):624-33. Epub 2016 Jun 7.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, United Kingdom.

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http://dx.doi.org/10.1016/j.nmd.2016.06.001DOI Listing
September 2016

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

J Neurol Neurosurg Psychiatry 2016 08 4;87(8):802-9. Epub 2016 May 4.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jnnp-2016-313163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047737PMC
August 2016

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

Ann Neurol 2016 07 25;80(1):101-11. Epub 2016 May 25.

Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1002/ana.24687DOI Listing
July 2016

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

Lancet Neurol 2016 07;15(8):882-890

John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Leiden University Medical Center, Leiden, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(16)30035-7DOI Listing
July 2016

Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy.

Mol Ther Nucleic Acids 2016 Jul 5;5(7):e331. Epub 2016 Jul 5.

Dubowitz Neuromuscular Centre and Developmental Neuroscience Programme, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/mtna.2016.47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014531PMC
July 2016

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Sci Signal 2016 07 5;9(435):ra68. Epub 2016 Jul 5.

Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, St Thomas' Hospital, London SE1 7EH, UK. Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London SE1 1UL, UK. Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London SE5 9RX, UK.

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http://dx.doi.org/10.1126/scisignal.aad9813DOI Listing
July 2016