Browse by UCL people
Group by: Type | Date
Number of items: 69.
Article
Bis-Brewer, DM;
Gan-Or, Z;
Sleiman, P;
Rodriguez, A;
Bacha, A;
Kosikowski, A;
Wood, B;
... Züchner, S; + view all
(2020)
Assessing non-Mendelian inheritance in inherited axonopathies.
Genetics in Medicine
, 22
pp. 2114-2119.
10.1038/s41436-020-0924-0.
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Bugiardini, E;
Khan, A;
Phadke, R;
Lynch, DS;
Cortese, A;
Feng, L;
Gang, Q;
... Hanna, MG; + view all
(2019)
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Neuromuscular Disorders
, 29
(10)
pp. 747-757.
10.1016/j.nmd.2019.08.003.
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Bugiardini, E;
Rossor, AM;
Lynch, DS;
Swash, M;
Pittman, AM;
Blake, JC;
Hanna, MG;
... Matthews, E; + view all
(2017)
Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.
Neurology Genetics
, 3
(4)
, Article e168. 10.1212/NXG.0000000000000168.
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Burnor, E;
Yang, L;
Zhou, H;
Patterson, KR;
Quinn, C;
Reilly, MM;
Rossor, AM;
... Lancaster, E; + view all
(2017)
Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.
Neurology
, 90
pp. 1-8.
10.1212/WNL.0000000000004773.
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Cortese, Andrea;
Currò, Riccardo;
Ronco, Riccardo;
Blake, Julian;
Rossor, Alex M;
Bugiardini, Enrico;
Laurà, Matilde;
... Reilly, Mary M; + view all
(2023)
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts.
European Journal of Neurology
10.1111/ene.16063.
(In press).
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Cortese, A;
Callegari, I;
Currò, R;
Vegezzi, E;
Colnaghi, S;
Versino, M;
Alfonsi, E;
... Reilly, MM; + view all
(2020)
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2020-323719.
(In press).
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Cortese, A;
Simone, R;
Sullivan, R;
Vandrovcova, J;
Tariq, H;
Yan, YW;
Humphrey, J;
... Houlden, H; + view all
(2019)
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nature Genetics
, 51
(4)
pp. 649-658.
10.1038/s41588-019-0372-4.
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Cortese, A;
Tozza, S;
Yau, WY;
Rossi, S;
Beecroft, SJ;
Jaunmuktane, Z;
Dyer, Z;
... Reilly, MM; + view all
(2020)
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
, 143
(2)
pp. 480-490.
10.1093/brain/awz418.
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Cortese, A;
Wilcox, JE;
Polke, JM;
Poh, R;
Skorupinska, M;
Rossor, AM;
Laura, M;
... Reilly, MM; + view all
(2019)
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Neurology
10.1212/WNL.0000000000008672.
(In press).
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Cortese, A;
Zhu, Y;
Rebelo, AP;
Negri, S;
Courel, S;
Abreu, L;
Bacon, CJ;
... Zuchner, S; + view all
(2020)
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nature Genetics
, 52
, Article 640. 10.1038/s41588-020-0649-7.
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Cortese, A;
Zhu, Y;
Rebelo, AP;
Negri, S;
Courel, S;
Abreu, L;
Bacon, CJ;
... Zuchner, S; + view all
(2020)
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nature Genetics
, 52
pp. 473-481.
10.1038/s41588-020-0615-4.
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Currò, Riccardo;
Dominik, Natalia;
Facchini, Stefano;
Vegezzi, Elisa;
Sullivan, Roisin;
Galassi Deforie, Valentina;
Fernández-Eulate, Gorka;
... Cortese, Andrea; + view all
(2024)
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
10.1093/brain/awad436.
(In press).
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Currò, R;
Salvalaggio, A;
Tozza, S;
Gemelli, C;
Dominik, N;
Galassi Deforie, V;
Magrinelli, F;
... Cortese, A; + view all
(2021)
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Brain
10.1093/brain/awab072.
(In press).
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Doherty, Carolynne M;
Howard, Paige;
O'Donnell, Luke F;
Zuccarino, Riccardo;
Wastling, Stephen;
Milev, Evelin;
Banks, Tina;
... Reilly, Mary M; + view all
(2024)
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A.
Annals of Neurology
10.1002/ana.26934.
(In press).
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Doherty, CM;
Morrow, JM;
Zuccarino, R;
Howard, P;
Wastling, S;
Pipis, M;
Zafeiropoulos, N;
... Reilly, MM; + view all
(2024)
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Annals of Clinical and Translational Neurology
10.1002/acn3.51979.
(In press).
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Farag, Mena;
Kafiabadi, Sina;
Roy, Amit;
Rossor, Alexander M;
Holmes, Paul;
(2023)
Trigeminal neuropathy from root entry zone infarction.
Practical Neurology
10.1136/pn-2023-003823.
(In press).
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Galtrey, CM;
Modarres, H;
Jaunmuktane, Z;
Brandner, S;
Rossor, AM;
Lockwood, DN;
Reilly, MM;
... Schon, F; + view all
(2017)
Leprosy in a patient infected with HIV.
Practical Neurology
, 17
(2)
pp. 135-139.
10.1136/practneurol-2016-001519.
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Kagiava, A;
Richter, J;
Tryfonos, C;
Karaiskos, C;
Heslegrave, AJ;
Sargiannidou, I;
Rossor, AM;
... Kleopa, KA; + view all
(2019)
Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.
Human Molecular Genetics
, 28
(21)
pp. 3528-3542.
10.1093/hmg/ddz199.
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Kapoor, M;
Carr, AS;
Foiani, MS;
Heslegrave, AJ;
Zetterberg, H;
Malaspina, A;
Compton, L;
... Lunn, MP; + view all
(2022)
Association of plasma neurofilament light chain with disease activity in chronic inflammatory demyelinating polyradiculoneuropathy.
European Journal of Neurology
10.1111/ene.15496.
(In press).
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Kapoor, M;
Foiani, M;
Heslegrave, A;
Zetterberg, H;
Lunn, MP;
Malaspina, A;
Gillmore, JD;
... Reilly, MM; + view all
(2019)
Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis.
Journal of the Peripheral Nervous System
, 24
(4)
pp. 314-319.
10.1111/jns.12350.
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Kapoor, M;
Rossor, AM;
Jaunmuktane, Z;
Lunn, MPT;
Reilly, MM;
(2018)
Diagnosis of amyloid neuropathy.
Practical Neurology
10.1136/practneurol-2018-002098.
(In press).
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Kapoor, M;
Rossor, AM;
Laura, M;
Reilly, MM;
(2019)
Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis.
Journal of Neuromuscular Diseases
10.3233/JND-180371.
(In press).
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Kapoor, M;
Spillane, J;
Englezou, C;
Sarri-Gonzalez, S;
Bell, R;
Rossor, A;
Manji, H;
... Carr, A; + view all
(2019)
Thromboembolic risk with IVIg: Incidence and risk factors in inflammatory neuropathy patients.
Neurology
10.1212/WNL.0000000000008742.
(In press).
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Keddie, S;
Jaunmuktane, Z;
Brandner, S;
Shah, S;
Maddison, P;
Rees, JH;
Hanna, MG;
... Carr, AS; + view all
(2018)
A diagnostic conundrum.
Practical Neurology
, 18
(2)
pp. 137-142.
10.1136/practneurol-2017-001801.
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Keddie, S;
Nagendran, A;
Cox, T;
Bomsztyk, J;
Jaunmuktane, Z;
Brandner, S;
Manji, H;
... Lunn, MP; + view all
(2020)
Peripheral nerve neurolymphomatosis: clinical features, treatment and outcomes.
Muscle & Nerve
, 62
(5)
pp. 617-625.
10.1002/mus.27045.
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Keh, R;
Kahlil, A;
Nihoyannopoulos, L;
Compton, L;
Kapoor, M;
Gosal, D;
Manji, H;
... Carr, AS; + view all
(2020)
Routine blood monitoring in maintenance immunoglobulin treatment of inflammatory neuropathy: Is it clinically relevant?
Journal of the Neurological Sciences
, 408
, Article 116527. 10.1016/j.jns.2019.116527.
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Kok, CY;
Chandrashekar, H;
Turner, C;
Manji, H;
Rossor, AM;
(2019)
Can compressive thoracic cord lesions cause a pure lower motor neurone syndrome?
Practical Neurology
, 19
(1)
pp. 72-74.
10.1136/practneurol-2018-002016.
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Kramarz, Caroline;
Rossor, Alexander M;
(2022)
Neurological update: hereditary neuropathies.
Journal of Neurology
, 269
(9)
pp. 5187-5191.
10.1007/s00415-022-11164-1.
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Laurá, M;
Pipis, M;
Rossor, AM;
Reilly, MM;
(2019)
Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
Current Opinion in Neurology
, 32
(5)
pp. 641-650.
10.1097/WCO.0000000000000735.
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Li, V;
Schon, F;
Fehmi, J;
Modarres, H;
Rinaldi, S;
Rossor, AM;
(2020)
Motor neuropathy with conduction block due to pan‐neurofascin antibodies in a patient with chronic lymphocytic leukemia.
Muscle & Nerve
, 61
(6)
E41-E44.
10.1002/mus.26851.
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Lischka, Annette;
Eggermann, Katja;
Record, Christopher J;
Dohrn, Maike F;
Laššuthová, Petra;
Kraft, Florian;
Begemann, Matthias;
... Kurth, Ingo; + view all
(2023)
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain
, Article awad328. 10.1093/brain/awad328.
(In press).
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Lynch, DS;
Rodrigues Brandão de Paiva, A;
Zhang, WJ;
Bugiardini, E;
Freua, F;
Tavares Lucato, L;
Macedo-Souza, LI;
... Houlden, H; + view all
(2017)
Clinical and genetic characterization of leukoencephalopathies in adults.
Brain
, 140
(5)
pp. 1204-1211.
10.1093/brain/awx045.
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O'Donnell, Luke F;
Pipis, Menelaos;
Thornton, John S;
Kanber, Baris;
Wastling, Stephen;
McDowell, Amy;
Zafeiropoulos, Nick;
... Reilly, Mary M; + view all
(2023)
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation.
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2023-332454.
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Panosyan, FB;
Laura, M;
Rossor, AM;
Pisciotta, C;
Piscosquito, G;
Burns, J;
Li, J;
... Inherited Neuropathies Consortium—Rare Diseases Clinical Researc; + view all
(2017)
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Neurology
, 89
(9)
pp. 927-935.
10.1212/WNL.0000000000004296.
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Pernice, Helena F;
O'Donnell, Luke F;
Rossor, Alexander M;
Laura, Matilde;
Record, Christopher J;
Skorupinska, Mariola;
Blake, Julian;
... Reilly, Mary M; + view all
(0204)
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
Journal of the Peripheral Nervous System
, 29
(1)
pp. 111-115.
10.1111/jns.12611.
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Pipis, M;
Cortese, A;
Polke, JM;
Poh, R;
Vandrovcova, J;
Laura, M;
Skorupinska, M;
... Reilly, MM; + view all
(2021)
Charcot-Marie-Tooth disease type 2CC due to NEFH
variants causes a progressive, non-length-dependent,
motor-predominant phenotype.
Journal of neurology, neurosurgery, and psychiatry
10.1136/jnnp-2021-327186.
(In press).
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Pipis, M;
Feely, SME;
Polke, JM;
Skorupinska, M;
Perez, L;
Shy, RR;
Laura, M;
... Inherited Neuropathies Consortium - Rare Disease Clinical Resear; + view all
(2021)
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Brain
10.1093/brain/awaa323.
(In press).
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Pipis, M;
Rossor, AM;
Laura, M;
Reilly, MM;
(2019)
Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.
Nature Reviews Neurology
, 15
pp. 644-656.
10.1038/s41582-019-0254-5.
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Quartesan, Ilaria;
Vegezzi, Elisa;
Currò, Riccardo;
Heslegrave, Amanda;
Pisciotta, Chiara;
Iruzubieta, Pablo;
Salvalaggio, Alessandro;
... Cortese, Andrea; + view all
(2023)
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Movement Disorders
10.1002/mds.29680.
(In press).
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Record, Christopher;
Pipis, Menelaos;
Curro, riccardo;
Blake, Julian;
Lunn, Michael;
Rossor, Alexander;
Laura, matilde;
... Reilly, mary; + view all
(2022)
Unusual upper limb features in SORD neuropathy.
Journal of the Peripheral Nervous System
, 27
(2)
pp. 175-177.
10.1111/jns.12492.
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Record, CJ;
Laura, M;
Rossor, AM;
Reilly, MM;
(2023)
The role of PMP22 T118M in Charcot–Marie–Tooth disease remains unsolved.
Journal of Biological Chemistry
, 299
(9)
, Article 105180. 10.1016/j.jbc.2023.105180.
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Reilly, MM;
Rossor, AM;
(2020)
Humans: the ultimate animal models.
Journal of Neurology, Neurosurgery, and Psychiatry
, 91
(11)
pp. 1132-1136.
10.1136/jnnp-2020-323016.
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Rocha, NH;
Bulger, DA;
Frontini, AH;
Titheradge, HB;
Gribsholt, SB;
Knox, RH;
Pages, MB;
... Semple, RK; + view all
(2017)
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
ELIFE
, 6
, Article e23813. 10.7554/eLife.23813.
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Rossor, AM;
(2021)
Broadening the genetic spectrum of distal hereditary motor neuropathy.
European Journal of Neurology
, 28
(4)
pp. 1104-1105.
10.1111/ene.14734.
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Rossor, AM;
Kapoor, M;
Wellington, H;
Spaulding, EL;
Sleigh, JN;
Burgess, RW;
Laura, M;
... Mm, R; + view all
(2021)
A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease.
Journal of the Peripheral Nervous System
10.1111/jns.12477.
(In press).
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Rossor, A;
Reilly, M;
Sleigh, JN;
(2018)
Antisense oligonucleotides and other genetic therapies made simple.
Practical Neurology
, 18
(2)
pp. 126-131.
10.1136/practneurol-2017-001764.
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Rossor, AM;
(2020)
Lessons from late onset Charcot-Marie-Tooth disease.
Journal of the Peripheral Nervous System
, 25
(3)
p. 222.
10.1111/jns.12400.
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Rossor, AM;
Blake, J;
Pissanou, T;
Reilly, MM;
(2017)
Sensory neuronopathy associated with cholangiocarcinoma diagnosed 6 years after symptom onset.
BMJ Case Reports
, 2017
10.1136/bcr-2016-217844.
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Rossor, AM;
Carr, AS;
Devine, H;
Chandrashekar, H;
Pelayo-Negro, AL;
Pareyson, D;
Shy, ME;
... Reilly, MM; + view all
(2017)
Peripheral neuropathy in complex inherited diseases: an approach to diagnosis.
Journal of Neurology, Neurosurgery and Psychiatry
, 88
(10)
pp. 846-863.
10.1136/jnnp-2016-313960.
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Rossor, AM;
Jaunmuktane, Z;
Rossor, MN;
Hoti, G;
Reilly, MM;
(2019)
TDP43 pathology in the brain, spinal cord, and dorsal root ganglia of a patient with FOSMN.
Neurology
, 92
e951-e956.
10.1212/WNL.0000000000007008.
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Rossor, AM;
Liu, CH;
Petzold, A;
Malaspina, A;
Laura, M;
Greensmith, L;
Reilly, MM;
(2016)
Plasma neurofilament heavy chain is not a useful biomarker in Charcot–Marie–Tooth disease.
Muscle & Nerve
, 53
(6)
pp. 972-975.
10.1002/mus.25124.
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Rossor, AM;
Morrow, JM;
Polke, JM;
Murphy, SM;
Houlden, H;
INC-RDCRC;
Laura, M;
... Reilly, MM; + view all
(2016)
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.
Neuromuscular Disorders
, 27
(1)
pp. 50-56.
10.1016/j.nmd.2016.10.001.
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Rossor, AM;
Shy, ME;
Reilly, MM;
(2020)
Are we prepared for clinical trials in Charcot-Marie-Tooth disease?
Brain Research
, 1729
, Article 146625. 10.1016/j.brainres.2019.146625.
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Rossor, AM;
Sleigh, JN;
Groves, M;
Muntoni, F;
Reilly, MM;
Hoogenraad, CC;
Schiavo, G;
(2020)
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.
Acta Neuropathol Commun
, 8
, Article 34. 10.1186/s40478-020-00909-6.
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Rossor, AM;
Tomaselli, PJ;
Reilly, MM;
(2016)
Recent advances in the genetic neuropathies.
Current Opinion in Neurology
, 29
(5)
pp. 537-548.
10.1097/WCO.0000000000000373.
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Sandelius, Å;
Zetterberg, H;
Blennow, K;
Adiutori, R;
Malaspina, A;
Laura, M;
Reilly, MM;
(2018)
Plasma neurofilament light chain concentration in the inherited peripheral neuropathies.
Neurology
, 90
e1-e7.
10.1212/WNL.0000000000004932.
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Schiza, N;
Georgiou, E;
Kagiava, A;
Médard, J-J;
Richter, J;
Tryfonos, C;
Sargiannidou, I;
... Kleopa, KA; + view all
(2019)
Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.
Brain
, Article awz064. 10.1093/brain/awz064.
(In press).
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Silwal, A;
Pitt, M;
Phadke, R;
Mankad, K;
Davison, JE;
Rossor, A;
DeVile, C;
... Munot, P; + view all
(2018)
Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.
Neuromuscular Disorders
, 28
(9)
pp. 757-765.
10.1016/j.nmd.2018.06.001.
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Sleigh, JN;
Rossor, AM;
Fellows, AD;
Tosolini, AP;
Schiavo, G;
(2019)
Axonal transport and neurological disease.
Nature Reviews Neurology
, 15
pp. 691-703.
10.1038/s41582-019-0257-2.
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Tomaselli, PJ;
Horga, A;
Rossor, AM;
Jaunmuktane, Z;
Cortese, A;
Blake, JC;
Zarate-Lopez, N;
... Reilly, MM; + view all
(2018)
IGHMBP2 mutation associated with organ-specific autonomic dysfunction.
Neuromuscular Disorders
, 28
(12)
pp. 1012-1015.
10.1016/j.nmd.2018.08.010.
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Tomaselli, PJ;
Kapoor, M;
Cortese, A;
Polke, JM;
Rossor, AM;
Reilly, MM;
(2018)
Severe cognitive impairment in a patient with CMT2A.
Journal of the Peripheral Nervous System
, 23
(2)
pp. 147-148.
10.1111/jns.12260.
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Tomaselli, PJ;
Rossor, AM;
Horga, A;
Jaunmuktane, Z;
Carr, A;
Saveri, P;
Piscosquito, G;
... Reilly, MM; + view all
(2017)
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Neurology
, 88
(15)
pp. 1445-1453.
10.1212/WNL.0000000000003819.
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Tomaselli, PJ;
Rossor, AM;
Horga, A;
Laura, M;
Blake, JC;
Houlden, H;
Reilly, MM;
(2017)
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
Journal of the Peripheral Nervous System
, 22
(4)
pp. 460-463.
10.1111/jns.12235.
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Tomaselli, PJ;
Rossor, AM;
Polke, JM;
Poh, R;
Blake, J;
Reilly, MM;
(2016)
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.
Journal of the Peripheral Nervous System
, 21
(1)
pp. 52-54.
10.1111/jns.12155.
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Vivekanandam, V;
Hoskote, C;
Rossor, AM;
Reilly, MM;
(2019)
CNS phenotype in X linked Charcot- Marie-Tooth disease.
[Letter].
Journal Of Neurology Neurosurgery And Psychiatry
, 90
(9)
, Article 1068. 10.1136/jnnp-2018-319849.
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Wang, H;
Davison, M;
Wang, K;
Xia, T-H;
Kramer, M;
Call, K;
Luo, J;
... Shy, ME; + view all
(2020)
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
Annals of Clinical and Translational Neurology
, 7
(1)
pp. 69-82.
10.1002/acn3.50965.
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Zhang, Victor Jia Wei;
O'Donnell, Luke F;
Skorupinska, Mariola;
Carganillo, Roy;
Rossor, Alexander M;
Fontana, Marianna;
Rowczenio, Dorota;
... Reilly, Mary M; + view all
(2025)
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis: United Kingdom Experience.
Neurology Genetics
, 11
(5)
, Article e200304. 10.1212/NXG.0000000000200304.
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Zis, P;
Reilly, MM;
Rao, DG;
Tomaselli, P;
Rossor, AM;
Hadjivassiliou, M;
(2017)
A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.
Journal of the Peripheral Nervous System
, 22
(3)
pp. 224-225.
10.1111/jns.12222.
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Thesis
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Rossor, AM;
(2014)
A Clinical and In Vitro Study of the Distal Hereditary Motor Neuropathies (n/a, , Trans.).
Doctoral thesis , UCL (University College London).
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