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Number of items: 39.
Article
Aartsma-Rus, A;
Morgan, J;
Lonkar, P;
Neubert, H;
Owens, J;
Binks, M;
Montolio, M;
... Arechavala-Gomeza, V; + view all
(2019)
Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology.
Journal of Neuromuscular Diseases
, 6
(1)
pp. 147-159.
10.3233/JND-180357.
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Ardicli, D;
Sarkozy, A;
Zaharieva, I;
Deshpande, C;
Bodi, I;
Siddiqui, A;
U-King-Im, JM;
... Muntoni, F; + view all
(2019)
A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.
Neuromuscular Disorders
, 29
(6)
pp. 448-455.
10.1016/j.nmd.2019.03.011.
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Bugiardini, Enrico;
Nunes, Andreia M;
Oliveira-Santos, Ariany;
Dagda, Marisela;
Fontelonga, Tatiana M;
Barraza-Flores, Pamela;
Pittman, Alan M;
... Burkin, Dean J; + view all
(2022)
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease
, Article e026494. 10.1161/JAHA.122.026494.
(In press).
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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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Carr, AS;
Shah, S;
Choi, D;
Blake, J;
Phadke, R;
Gilbertson, J;
Whelan, CJ;
... Reilly, MM; + view all
(2019)
Spinal Stenosis in Familial Transthyretin Amyloidosis.
Journal of Neuromuscular Diseases
10.3233/JND-180348.
(In press).
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Desikan, M;
Scalco, RS;
Manole, A;
Gardiner, A;
schapira, A;
Lachmann, R;
Houlden, H;
... Quinlivan, R; + view all
(2018)
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).
Neuromuscular Disorders
, 28
(4)
pp. 346-349.
10.1016/j.nmd.2018.01.002.
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Foley, AR;
Menezes, MP;
Pandraud, A;
Gonzalez, MA;
Al-Odaib, A;
Abrams, AJ;
Sugano, K;
... Houlden, H; + view all
(2013)
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Brain
, 137
(1)
, Article awt315. 10.1093/brain/awt315.
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Hafner, P;
Phadke, R;
Manzur, A;
Smitha, R;
Jaiser, S;
Schutz, P;
Sewry, C;
... Pitt, M; + view all
(2019)
Electromyography and muscle biopsy in paediatric neuromuscular disorders – Evaluation of current practice and literature review.
Neuromuscular Disorders
, 29
(1)
pp. 14-20.
10.1016/j.nmd.2018.10.003.
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Hill, NE;
Murphy, KG;
Saeed, S;
Phadke, R;
Chambers, D;
Wilson, DR;
Brett, SJ;
(2017)
Impact of ghrelin on body composition and muscle function in a long-term rodent model of critical illness.
PLoS ONE
, 12
(8)
, Article e0182659. 10.1371/journal.pone.0182659.
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Jungbluth, H;
Treves, S;
Zorzato, F;
Sarkozy, A;
Ochala, J;
Sewry, C;
Phadke, R;
... Muntoni, F; + view all
(2018)
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.
[Review].
Nature Reviews Neurology
, 14
(3)
pp. 151-167.
10.1038/nrneurol.2017.191.
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Keshavan, N;
Abdenur, J;
Anderson, G;
Assouline, Z;
Barcia, G;
Bouhikbar, L;
Chakrapani, A;
... Rahman, S; + view all
(2020)
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Genetics in Medicine
, 22
pp. 199-209.
10.1038/s41436-019-0613-z.
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Lakshmanan, R;
Adams, ME;
Lynch, DS;
Kinsella, JA;
Phadke, R;
Schott, JM;
Murphy, E;
... Davagnanam, I; + view all
(2017)
Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.
Neurology Genetics
, 3
(2)
, Article e135. 10.1212/NXG.0000000000000135.
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Logan, CV;
Szabadkai, G;
Sharpe, JA;
Parry, DA;
Torelli, S;
Childs, AM;
Kriek, M;
... Sheridan, E; + view all
(2014)
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Nature Genetics
, 46
(2)
pp. 188-193.
10.1038/ng.2851.
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Lynch, DS;
Jaunmuktane, Z;
Sheerin, UM;
Phadke, R;
Brandner, S;
Milonas, I;
Dean, A;
... Houlden, H; + view all
(2016)
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.
Journal of Neurology, Neurosurgery and Psychiatry
, 87
(5)
pp. 512-519.
10.1136/jnnp-2015-310788.
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Lynch, DS;
Zhang, WJ;
Lakshmanan, R;
Kinsella, JA;
Uzun, GA;
Karbay, M;
Tufekcioglu, Z;
... Houlden, H; + view all
(2016)
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
JAMA Neurology
, 73
(12)
pp. 1433-1439.
10.1001/jamaneurol.2016.2229.
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Munot, P;
McCrea, N;
Torelli, S;
Manzur, A;
Sewry, C;
Chambers, D;
Feng, L;
... Muntoni, F; + view all
(2022)
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Neuropathology and Applied Neurobiology
, 48
(2)
, Article e12771. 10.1111/nan.12771.
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Nasca, A;
Scotton, C;
Zaharieva, I;
Neri, M;
Selvatici, R;
Magnusson, OT;
Gal, A;
... Ghezzi, D; + view all
(2017)
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Human Mutation
, 38
(8)
pp. 970-977.
10.1002/humu.23262.
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Phadke, R;
(2019)
Myopathology of Congenital Myopathies: Bridging the Old and the New.
Seminars in Pediatric Neurology
, 29
pp. 55-70.
10.1016/j.spen.2019.01.007.
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Phadke, R;
(2017)
Myopathology of Adult and Paediatric Mitochondrial Diseases.
Journal of Clinical Medicine
, 6
(7)
, Article 64. 10.3390/jcm6070064.
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Phadke, R;
Hedberg-Oldfors, C;
Scalco, RS;
Lowe, DM;
Ashworth, M;
Novelli, M;
Vara, R;
... Murphy, E; + view all
(2020)
RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature.
Journal of Inherited Metabolic Disease
, 43
(5)
pp. 1002-1013.
10.1002/jimd.12234.
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Piras, G;
Montiel-Equihua, C;
Chan, Y-KA;
Wantuch, S;
Stuckey, D;
Burke, D;
Prunty, H;
... Gaspar, HB; + view all
(2020)
Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease.
Molecular Therapy - Methods and Clinical Development
, 18
pp. 558-570.
10.1016/j.omtm.2020.07.001.
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Pizzamiglio, C;
Lahiri, N;
Nirmalananthan, N;
Sood, B;
Somalanka, S;
Ostrowski, P;
Phadke, R;
... Quinlivan, R; + view all
(2020)
First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.
Neuromuscular Disorders
, 30
(7)
pp. 566-571.
10.1016/j.nmd.2020.05.004.
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Puthucheary, ZA;
Phadke, R;
Rawal, J;
McPhail, MJW;
Sidhu, PS;
Rowlerson, A;
Moxham, J;
... Montgomery, HE; + view all
(2015)
Qualitative Ultrasound in Acute Critical Illness Muscle Wasting.
Critical Care Medicine
, 43
(8)
pp. 1603-1611.
10.1097/CCM.0000000000001016.
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Ravenscroft, G;
Zaharieva, I;
Bortolotti, CA;
Lambrughi, M;
Pignataro, M;
Borsari, M;
Sewry, CA;
... Muntoni, F; + view all
(2018)
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Human Molecular Genetics
, 27
(24)
pp. 4263-4272.
10.1093/hmg/ddy320.
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Rees, M;
Nikoopour, R;
Fukuzawa, A;
Kho, AL;
Fernandez-Garcia, MA;
Wraige, E;
Bodi, I;
... Gautel, M; + view all
(2021)
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathologia
10.1007/s00401-020-02257-0.
(In press).
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Sampedro Castañeda, M;
Zanoteli, E;
Scalco, RS;
Scaramuzzi, V;
Marques Caldas, V;
Conti Reed, U;
da Silva, AMS;
... Matthews, E; + view all
(2018)
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Brain
, 141
(12)
pp. 3308-3318.
10.1093/brain/awy283.
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Sardone, V;
Ellis, M;
Torelli, S;
Feng, L;
Chambers, D;
Eastwood, D;
Sewry, C;
... Muntoni, F; + view all
(2018)
A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.
PLoS One
, 13
(3)
, Article e0194540. 10.1371/journal.pone.0194540.
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Sarkozy, A;
Torelli, S;
Mein, R;
Henderson, M;
Phadke, R;
Feng, L;
Sewry, CA;
... Muntoni, F; + view all
(2018)
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Journal of Neurology, Neurosurgery and Psychiatry
, 89
(7)
pp. 762-768.
10.1136/jnnp-2017-316956.
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Scaglioni, D;
Catapano, F;
Ellis, M;
Torelli, S;
Chambers, D;
Feng, L;
Beck, M;
... Muntoni, F; + view all
(2021)
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy.
Acta Neuropathologica Communications
, 9
(1)
, Article 7. 10.1186/s40478-020-01106-1.
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Scaglioni, D;
Ellis, M;
Catapano, F;
Torelli, S;
Chambers, D;
Feng, L;
Sewry, C;
... Phadke, R; + view all
(2020)
A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies.
Acta Neuropathologica Communications
, 8
, Article 53. 10.1186/s40478-020-00918-5.
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Scalco, RS;
Gardiner, AR;
Pitceathly, RDS;
Hilton-Jones, D;
Schapira, AH;
Turner, C;
Parton, M;
... Quinlivan, R; + view all
(2016)
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies.
Neuromuscular Disorders
, 26
(8)
pp. 504-510.
10.1016/j.nmd.2016.05.006.
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Schartner, V;
Romero, NB;
Donkervoort, S;
Treves, S;
Munot, P;
Pierson, TM;
Dabaj, I;
... Laporte, J; + view all
(2016)
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathologica
, 133
(4)
pp. 517-533.
10.1007/s00401-016-1656-8.
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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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Stevens, E;
Torelli, S;
Feng, L;
Phadke, R;
Walter, MC;
Schneiderat, P;
Eddaoudi, A;
... Muntoni, F; + view all
(2013)
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
PLoS One
, 8
(7)
, Article e68958. 10.1371/journal.pone.0068958.
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Suetterlin, K;
Tan, S;
Männikkö, R;
Phadke, R;
Orford, MR;
Eaton, S;
Sayer, A;
... Hanna, M; + view all
(2021)
Ageing Contributes to Phenotype Transition in a Mouse Model of Periodic Paralysis.
JCSM Rapid Communications
, 4
(2)
pp. 245-259.
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Ullmann, U;
D’Argenzio, L;
Mathur, S;
Whyte, T;
Quinlivan, R;
Longman, C;
Farrugia, ME;
... Muntoni, F; + view all
(2018)
ECEL1 gene related contractural syndrome: long-term follow-up and update on clinical and pathological aspects.
Neuromuscular Disorders
, 28
(9)
pp. 741-749.
10.1016/j.nmd.2018.05.012.
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Wiessner, M;
Roos, A;
Munn, CJ;
Viswanathan, R;
Whyte, T;
Cox, D;
Schoser, B;
... Senderek, J; + view all
(2017)
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
The American Journal of Human Genetics
, 100
(3)
pp. 523-536.
10.1016/j.ajhg.2017.01.024.
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Zaharieva, IT;
Sarkozy, A;
Munot, P;
Manzur, A;
O'Grady, G;
Rendu, J;
Malfatti, E;
... Muntoni, F; + view all
(2018)
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Human Mutation
, 39
(12)
pp. 1980-1994.
10.1002/humu.23635.
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Zambon, AA;
Ridout, D;
Main, M;
Mein, R;
Phadke, R;
Muntoni, F;
Sarkozy, A;
(2020)
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.
Annals of Clinical and Translational Neurology
, 7
(10)
pp. 18870-1882.
10.1002/acn3.51172.
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