Mary M Reilly

Mary M Reilly

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Mary M Reilly

Mary M Reilly

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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Neurology 2020 Jan 11;94(1):e51-e61. Epub 2019 Dec 11.

From the MRC Centre for Neuromuscular Diseases (A.C., J.M.P., R.P., M.S., A.M.R., M.L., P.J.T., H.H., M.M.R.), Department of Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; and the Department of Neurology (J.E.W., M.E.S.), University of Iowa Carver College of Medicine, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000008672DOI Listing
January 2020

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis.

J Neuromuscul Dis 2019 ;6(2):189-199

Department of Neuromuscular Diseases, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.3233/JND-180371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598024PMC
December 2019

Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis.

J Peripher Nerv Syst 2019 Dec 14;24(4):314-319. Epub 2019 Oct 14.

MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/jns.12350DOI Listing
December 2019

Thromboembolic risk with IVIg: Incidence and risk factors in inflammatory neuropathy patients.

Neurology 2019 Dec 18. Epub 2019 Dec 18.

From the National Hospital of Neurology and Neurosurgery (J.S., C.E., S.S.-G., M.P.L., A.C.); MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases (M.K., A.R., H.M., M.M.R.), UCL Institute of Neurology; Department of Cardiology (R.B.), University College London Hospital; and Department of Neuroimmunology (M.P.L.), Institute of Neurology, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000008742DOI Listing
December 2019

Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.

Nat Rev Neurol 2019 11 3;15(11):644-656. Epub 2019 Oct 3.

MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

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http://dx.doi.org/10.1038/s41582-019-0254-5DOI Listing
November 2019

Charcot-Marie-Tooth disease and related disorders: an evolving landscape.

Curr Opin Neurol 2019 Oct;32(5):641-650

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

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http://dx.doi.org/10.1097/WCO.0000000000000735DOI Listing
October 2019

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Neuromuscul Disord 2019 Oct 19;29(10):747-757. Epub 2019 Aug 19.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.003DOI Listing
October 2019

CNS phenotype in X linked Charcot- Marie-Tooth disease.

J Neurol Neurosurg Psychiatry 2019 Sep 5;90(9):1068. Epub 2018 Dec 5.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/jnnp-2018-319849DOI Listing
September 2019

Balance impairment in pediatric charcot-marie-tooth disease.

Muscle Nerve 2019 09 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

Diagnosis of amyloid neuropathy.

Pract Neurol 2019 Jun 30;19(3):250-258. Epub 2018 Dec 30.

MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Institute of Neurology, London, UK

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http://pn.bmj.com/lookup/doi/10.1136/practneurol-2018-002098
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http://dx.doi.org/10.1136/practneurol-2018-002098DOI Listing
June 2019

Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity.

Neurology 2019 04 8;92(15):e1773-e1785. Epub 2019 Mar 8.

From Queen Square MRC Centre for Neuromuscular Diseases, Institute of Neurology (A.W., A.P., M.D., P.M.M., M.L., I.S., M.S., M.M.R., M.G.H., G.M.R.), Institute of Sport, Exercise and Health (P.H.), and Department of Statistical Science (G.B.), University College London; National Hospital for Neurology and Neurosurgery (E.D., K.J.), University College Hospitals, NHS Foundation Trust; Faculty of Health, Social Care & Education (M.D., G.M.R.), Kingston University/St George's University of London; Department of Psychology (A.S.), University of Surrey, Guildford; Charcot Marie Tooth United Kingdom (K.B.), Registered Charity Number 1112370; and Movelab (M.T.), Newcastle University, UK.

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http://dx.doi.org/10.1212/WNL.0000000000007265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511083PMC
April 2019

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Neurol Genet 2019 Apr 1;5(2):e322. Epub 2019 Apr 1.

Department of Neuromuscular Diseases (A.H., A.C., M.G.H., M.M.R.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Molecular Neuroscience (A.M.P., H.H.), UCL Queen Square Institute of Neurology; Department of Neuro-ophthalmology (F.B.F.R.C.O.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Division of Neuropathology (Z.J., S.B.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Clinical and Movement Neurosciences (Z.J.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (L.D., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Human Genetics and Hussman Institute for Human Genomics (A.P.R., S.Z.), University of Miami, FL; Department of Neurogenetics (C.E.W., J.M.P.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Neurometabolic Unit (I.P.H.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; and Department of Neurodegenerative Disease (S.B.), UCL Queen Square Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639PMC
April 2019

TDP43 pathology in the brain, spinal cord, and dorsal root ganglia of a patient with FOSMN.

Neurology 2019 02 30;92(9):e951-e956. Epub 2019 Jan 30.

From the MRC Centre for Neuromuscular Diseases (A.M.R., M.M.R.), Department of Neurodegenerative Disease (Z.J.), Queen Square Brain Bank (Z.J., G.H.), and Dementia Research Centre (M.N.R.), UCL Institute of Neurology; National Hospital for Neurology and Neurosurgery (A.M.R., M.M.R., M.N.R.); and Division of Neuropathology (Z.J.), National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, UK.

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http://dx.doi.org/10.1212/WNL.0000000000007008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404468PMC
February 2019

IGHMBP2 mutation associated with organ-specific autonomic dysfunction.

Neuromuscul Disord 2018 12 29;28(12):1012-1015. Epub 2018 Aug 29.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3AR, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966173155
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http://dx.doi.org/10.1016/j.nmd.2018.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302219PMC
December 2018

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A.

Neurology 2018 09 17;91(12):e1125-e1129. Epub 2018 Aug 17.

From the MRC Centre for Neuromuscular Diseases (J.M.M., M.R.B.E., C.D.J.S., T.A.Y., M.G.H., J.S.T., M.M.R.) and Neuroradiological Academic Unit (S.S.), UCL Institute of Neurology, London, UK; Carver College of Medicine (T.G., P.N., M.E.S.) and Department of Radiology (D.T.), University of Iowa, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000006214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161551PMC
September 2018

Raised VEGF: High sensitivity and specificity in the diagnosis of POEMS syndrome.

Neurol Neuroimmunol Neuroinflamm 2018 Sep 15;5(5):e486. Epub 2018 Aug 15.

MRC Centre for Neuromuscular Diseases (M.P., S.K., M.M.R., M.P.L.), National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Cancer Division (S.D., K.L.Y.), University College London Hospitals NHS Foundation Trust, London, UK; and Department of Neuroimmunology (A.J.C., M.P.L.), Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1212/NXI.0000000000000486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117193PMC
September 2018

POEMS neuropathy: optimising diagnosis and management.

Pract Neurol 2018 Aug 6;18(4):278-290. Epub 2018 Mar 6.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/practneurol-2017-001792DOI Listing
August 2018

Severe cognitive impairment in a patient with CMT2A.

J Peripher Nerv Syst 2018 Jun 26;23(2):147-148. Epub 2018 Mar 26.

MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/jns.12260DOI Listing
June 2018

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Front Neurol 2018 26;9:456. Epub 2018 Jun 26.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.3389/fneur.2018.00456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028608PMC
June 2018

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

Hum Mutat 2018 05 14;39(5):635-642. Epub 2018 Mar 14.

Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida.

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http://dx.doi.org/10.1002/humu.23412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903998PMC
May 2018

Frequency and circumstances of falls for people with Charcot-Marie-Tooth disease: A cross sectional survey.

Physiother Res Int 2018 Apr 28;23(2):e1702. Epub 2017 Dec 28.

Queen Square Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology/University College London NHS Foundation Trust, London, UK.

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http://doi.wiley.com/10.1002/pri.1702
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http://dx.doi.org/10.1002/pri.1702DOI Listing
April 2018

A diagnostic conundrum.

Pract Neurol 2018 04 23;18(2):137-142. Epub 2018 Jan 23.

Department of Molecular Neuroscience, MRC Centre for Neuromuscular Diseases, National Hospital of Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/practneurol-2017-001801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513759PMC
April 2018

Antisense oligonucleotides and other genetic therapies made simple.

Pract Neurol 2018 Apr 17;18(2):126-131. Epub 2018 Feb 17.

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1136/practneurol-2017-001764DOI Listing
April 2018

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

Muscle Nerve 2018 03 21;57(3):388-394. Epub 2017 Jul 21.

Department of Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.

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http://dx.doi.org/10.1002/mus.25742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762426PMC
March 2018

Plasma neurofilament light chain concentration in the inherited peripheral neuropathies.

Neurology 2018 02 10;90(6):e518-e524. Epub 2018 Jan 10.

From the Department of Psychiatry and Neurochemistry (Å.S., H.Z., K.B.), Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg; Clinical Neurochemistry Laboratory (H.Z., K.B.), Sahlgrenska University Hospital, Mölndal, Sweden; Department of Molecular Neuroscience (H.Z.), UCL Institute of Neurology; Trauma and Neuroscience Centre (R.A., A.M.), Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London; and MRC Centre for Neuromuscular Diseases (M.L., M.M.R., A.M.R.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004932DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818017PMC
February 2018

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.

Neurology 2018 01 29;90(1):e31-e38. Epub 2017 Nov 29.

From the Department of Neurology (E.B., K.R.P., C.Q., S.S.S., E.L.), University of Pennsylvania, Philadelphia; Department of Neurology (L.Y., H.Z.), Second Xiangya Hospital of Central South University, Changsha, China; and MRC Centre for Neuromuscular Diseases (M.M.R., A.M.R.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754648PMC
January 2018

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

J Peripher Nerv Syst 2017 12 11;22(4):460-463. Epub 2017 Sep 11.

MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/jns.12235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763335PMC
December 2017

221st ENMC International Workshop:: Foot Surgery in Charcot-Marie-Tooth disease. 10-12 June 2016, Naarden, The Netherlands.

Neuromuscul Disord 2017 12 21;27(12):1138-1142. Epub 2017 Sep 21.

Royal National Orthopaedic Hospital, Stanmore, UK.

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http://dx.doi.org/10.1016/j.nmd.2017.09.005DOI Listing
December 2017

Sensory neuronopathy associated with cholangiocarcinoma diagnosed 6 years after symptom onset.

BMJ Case Rep 2017 Dec 20;2017. Epub 2017 Dec 20.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/bcr-2016-217844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5743886PMC
December 2017

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis.

J Neurol Neurosurg Psychiatry 2017 10 9;88(10):846-863. Epub 2017 Aug 9.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jnnp-2016-313960DOI Listing
October 2017

A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.

J Peripher Nerv Syst 2017 09;22(3):224-225

Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust.

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http://dx.doi.org/10.1111/jns.12222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601274PMC
September 2017

A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects.

Disabil Rehabil 2017 08 16;39(17):1753-1758. Epub 2016 Aug 16.

b MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery , London , UK.

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http://dx.doi.org/10.1080/09638288.2016.1211180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592965PMC
August 2017

Homozygous mutation in causing distal vacuolar myopathy and motor neuropathy.

Neurol Genet 2017 Aug 6;3(4):e168. Epub 2017 Jul 6.

MRC Centre for Neuromuscular Diseases (E.B., A.M.R., J.C.B., M.G.H., J.L.H., M.M.R., E.M.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., A.M.P., M.G.H., H.H., J.L.H.), and Division of Neuropathology (J.L.H.), UCL Institute of Neurology, London; Department of Neurology (M.S.), The Royal London Hospital; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499975PMC
August 2017

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Neurology 2017 Aug 2;89(9):927-935. Epub 2017 Aug 2.

From the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000004296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577965PMC
August 2017

Differentiating lower motor neuron syndromes.

J Neurol Neurosurg Psychiatry 2017 06 21;88(6):474-483. Epub 2016 Dec 21.

Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1136/jnnp-2016-313526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529975PMC
June 2017

Wisdom tooth extraction causing lingual nerve and styloglossus muscle damage: a mimic of multiple cranial nerve palsies.

Pract Neurol 2017 Jun 26;17(3):218-221. Epub 2017 Feb 26.

MRC Centre for Neuromuscular Diseases, National Hospital of Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/practneurol-2016-001491DOI Listing
June 2017

Leprosy in a patient infected with HIV.

Pract Neurol 2017 Apr 9;17(2):135-139. Epub 2016 Dec 9.

St George's University Hospitals, London, UK.

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http://dx.doi.org/10.1136/practneurol-2016-001519DOI Listing
April 2017

Mutations in noncoding regions of are a major cause of X-linked CMT.

Neurology 2017 Apr 10;88(15):1445-1453. Epub 2017 Mar 10.

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norfolk, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386440PMC
April 2017

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

Neuromuscul Disord 2017 Jan 8;27(1):50-56. Epub 2016 Oct 8.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.nmd.2016.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260843PMC
January 2017

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

Neurogenetics 2017 01 22;18(1):63-67. Epub 2016 Dec 22.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1007/s10048-016-0505-1DOI Listing
January 2017

Severe axonal neuropathy is a late manifestation of SPG11.

J Neurol 2016 Nov 20;263(11):2278-2286. Epub 2016 Aug 20.

Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00415-016-8254-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065903PMC
November 2016

Recent advances in the genetic neuropathies.

Curr Opin Neurol 2016 10;29(5):537-48

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, London WC1N 3BG, United Kingdom.

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http://dx.doi.org/10.1097/WCO.0000000000000373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130159PMC
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

Rydel-Seiffer fork revisited: Beyond a simple case of black and white.

Neurology 2016 08 13;87(7):738-40. Epub 2016 Jul 13.

From the Department of Neurology (F.B.P., J.M.M., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.M.R.), UCL Institute of Neurology, London, UK; and Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000002991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999169PMC
August 2016

Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease.

Muscle Nerve 2016 06 27;53(6):972-5. Epub 2016 Apr 27.

Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, 811 Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1002/mus.25124DOI Listing
June 2016

Untreatable genetic disorders: to test or not to test.

Authors:
Mary M Reilly

Pract Neurol 2016 Jun 25;16(3):174-5. Epub 2016 Mar 25.

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http://dx.doi.org/10.1136/practneurol-2016-001415DOI Listing
June 2016

A proposed dosing algorithm for the individualized dosing of human immunoglobulin in chronic inflammatory neuropathies.

J Peripher Nerv Syst 2016 Mar;21(1):33-7

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1111/jns.12158DOI Listing
March 2016

Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.

J Peripher Nerv Syst 2016 Mar;21(1):52-4

MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/jns.12155DOI Listing
March 2016

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.

Cochrane Database Syst Rev 2015 Dec 11(12):CD011952. Epub 2015 Dec 11.

Department of Neurology, University Hospital RWTH Aachen, Pauwelsstraße 30, Aachen, Germany, 52074.

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http://dx.doi.org/10.1002/14651858.CD011952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823270PMC
December 2015

Cervical spinal cord compression complicating the clinical course of Charcot-Marie-Tooth type 1.

BMJ Case Rep 2015 Dec 17;2015. Epub 2015 Dec 17.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/bcr-2015-213486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691927PMC
December 2015

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Brain 2015 Nov 10;138(Pt 11):e392. Epub 2015 Jun 10.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital. Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awv160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4719680PMC
November 2015

Tremor in Charcot-Marie-Tooth disease: No evidence of cerebellar dysfunction.

Clin Neurophysiol 2015 Sep 17;126(9):1817-24. Epub 2015 Jan 17.

Sobell Department for Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, 33 Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.clinph.2014.12.023DOI Listing
September 2015

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.

J Neurol 2015 Aug 6;262(8):1972-5. Epub 2015 Jun 6.

Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, University of Athens Medical School, 74 Vas. Sophias Ave., 11528, Athens, Greece,

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http://link.springer.com/10.1007/s00415-015-7800-x
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http://dx.doi.org/10.1007/s00415-015-7800-xDOI Listing
August 2015

Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.

J Neurol 2015 Aug;262(8):1976

Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, University of Athens Medical School, 74 Vas. Sophias Ave., 11528, Athens, Greece,

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http://link.springer.com/10.1007/s00415-015-7846-9
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http://dx.doi.org/10.1007/s00415-015-7846-9DOI Listing
August 2015

Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.

J Neurol 2015 Aug 21;262(8):1984-6. Epub 2015 Jul 21.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Box 108, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00415-015-7851-zDOI Listing
August 2015

A practical approach to the genetic neuropathies.

Pract Neurol 2015 Jun 21;15(3):187-98. Epub 2015 Apr 21.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK.

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http://pn.bmj.com/content/15/3/187.full.pdf
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http://pn.bmj.com/lookup/doi/10.1136/practneurol-2015-001095
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http://dx.doi.org/10.1136/practneurol-2015-001095DOI Listing
June 2015

MFN2 deletion of exons 7 and 8: founder mutation in the UK population.

J Peripher Nerv Syst 2015 Jun;20(2):67-71

MRC Centre for Neuromuscular diseases, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1111/jns.12117DOI Listing
June 2015

An observational study of asymmetry in CMT1A.

J Neurol Neurosurg Psychiatry 2015 May 13;86(5):589-90. Epub 2014 Oct 13.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/jnnp-2014-309096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4413808PMC
May 2015

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

Brain 2015 Apr 11;138(Pt 4):845-61. Epub 2015 Feb 11.

4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA 6 Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN, USA 23 Department of Medical Genetics, Mayo Clinic Rochester MN, USA

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http://dx.doi.org/10.1093/brain/awv010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014076PMC
April 2015

Early detection of nerve injury in transthyretin-related familial amyloid polyneuropathy.

Brain 2015 Mar;138(Pt 3):507-9

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK

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http://dx.doi.org/10.1093/brain/awu396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4408437PMC
March 2015

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Brain 2015 Feb 14;138(Pt 2):293-310. Epub 2014 Dec 14.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awu356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306822PMC
February 2015

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Neurology 2015 Feb 21;84(7):668-79. Epub 2015 Jan 21.

From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.

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http://www.neurology.org/content/84/7/668.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000126
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http://dx.doi.org/10.1212/WNL.0000000000001269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336105PMC
February 2015

A new prion disease: relationship with central and peripheral amyloidoses.

Nat Rev Neurol 2015 Feb 27;11(2):90-7. Epub 2015 Jan 27.

MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1038/nrneurol.2014.263DOI Listing
February 2015

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Brain 2014 Dec 3;137(Pt 12):3200-12. Epub 2014 Oct 3.

1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1093/brain/awu279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240292PMC
December 2014

A pilot study of proximal strength training in Charcot-Marie-Tooth disease.

J Peripher Nerv Syst 2014 Dec;19(4):328-32

School of Rehabilitation Sciences, Faculty of Health, Social Work and Education, Kingston University and St George's University of London, London, UK; MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/jns.12100DOI Listing
December 2014

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Am J Hum Genet 2014 Nov 30;95(5):590-601. Epub 2014 Oct 30.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225647PMC
November 2014