R. Phadke

M. Kinali, V. Salpietro, M. Ruggieri, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

S. Züchner, M. Lek, F. Muntoni, 2013, Brain : a journal of neurology.

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease

S. Benedetti, Daniel W. Stuckey, A. Thrasher, 2020, Molecular therapy. Methods & clinical development.

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

A. Schapira, G. Ravenscroft, N. Laing, 2016, Neuromuscular Disorders.

M. Ashworth, A. King, R. Sofat, 2020, Journal of inherited metabolic disease.

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

F. Muntoni, J. U-King-im, I. Bodi, 2019, Neuromuscular Disorders.

Pathology and Biology of Inflammatory Myopathies

R. Phadke, 2007 .

Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy

M. Reilly, M. Kidd, E. Healy, 2012, Neuromuscular Disorders.

Dihydropyridine receptor ( DHPR ) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2018 .

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2017, Acta Neuropathologica.

CONGENITAL MUSCULAR DYSTROPHIES P.198 TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain

F. Muntoni, I. Nishino, W. Liang, 2020, Neuromuscular Disorders.

F. Muntoni, A. Manzur, M. Farrugia, 2018, Neuromuscular Disorders.

F. Muntoni, A. Manzur, M. Farrugia, 2018 .

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

F. Muntoni, N. Clarke, D. Herrmann, 2015, Brain : a journal of neurology.

Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease

D. Zafeiriou, M. Mroczek, V. Straub, 2020, Neuropediatrics.

muscular dystrophy The role of free radicals in the pathophysiology of

Robert W. Taylor, F. Muntoni, Paul L Huang, 2015 .

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

A. Need, M. Bleda, L. Moutsianas, 2022, Nature Communications.

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples

F. Muntoni, V. Sardone, C. Sewry, 2018, PloS one.

GGPS1 ‐associated muscular dystrophy with and without hearing loss

F. Muntoni, R. Maroofian, H. Houlden, 2022, Annals of clinical and translational neurology.

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

Robert W. Taylor, A. Rötig, N. Hauser, 2019, Genetics in Medicine.

Golodirsen Induces Exon Skipping Leading to Sarcolemmal Dystrophin Expression in Duchenne Muscular Dystrophy Patients With Mutations Amenable to Exon 53 Skipping (S22.001)

C. Clark, E. Mercuri, K. Bushby, 2018 .

Usefulness of various MRI sequences in the diagnosis of viral encephalitis.

J. Kalita, U. Misra, R. Phadke, 2010, Acta tropica.

Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects

F. Muntoni, C. Sewry, E. Clement, 2021, Neuromuscular Disorders.

Spinal claudication due to myxopapillary ependymoma

S. Lewis, D. Choi, C. McGuigan, 2007, Practical Neurology.

Diagnosis of Neuroinvasive Astrovirus Infection in an Immunocompromised Adult With Encephalitis by Unbiased Next-Generation Sequencing

Vanya Gant, Rahul Phadke, Steve Miller, 2015, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

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

F. Baas, E. Mercuri, F. Muntoni, 2019 .

Mitochondria DNA Depletion Syndrome in a Infant with Multiple Congenital Malformations, Severe Myopathy, and Prolonged Postoperative Paralysis

N. Canham, M. Kinali, V. Salpietro, 2015, Journal of child neurology.

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

F. Muntoni, A. Manzur, C. Sewry, 2019, Neuromuscular Disorders.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Colin A. Johnson, M. Hurles, D. Bonthron, 2013, Nature Genetics.

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

E. Zanoteli, M. Hanna, E. Bugiardini, 2018, Brain : a journal of neurology.

Acute skeletal muscle wasting in critical illness.

Chibeza C. Agley, M. Mcphail, N. Hopkinson, 2013, JAMA.

Pathology of Adult and Paediatric Mitochondrial Myopathies

R. Phadke, 2017 .

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Nick C Fox, Wei Zhang, H. Houlden, 2016, JAMA neurology.

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

M. Zeviani, M. Pane, E. Mercuri, 2017, Human mutation.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2022, Nature Communications.

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome

M. Kinali, V. Salpietro, K. McElreavey, 2015, Journal Genetika.

Qualitative Ultrasound in Acute Critical Illness Muscle Wasting

Rahul Phadke, Anthea Rowlerson, John Moxham, 2015, Critical care medicine.

Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy

F. Muntoni, C. Sewry, A. Foley, 2014, Neuromuscular Disorders.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

F. Muntoni, L. Servais, Glyn Williams, 2018, Human mutation.

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

F. Muntoni, N. Clarke, Michael A. Gonzalez, 2015, Brain : a journal of neurology.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Andreas Roos, Francesco Muntoni, Rita Barresi, 2017, American journal of human genetics.

Confusing muscle pathology in a child with distal weakness

Joanna Poulton, Francesco Muntoni, Caroline A. Sewry, 2015 .

Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies

F. Muntoni, P. Schneiderat, M. Walter, 2013, PloS one.

Parental mosaicism in RYR1-related Central Core Disease

P. Fallon, S. Mohammed, S. Marks, 2018, Neuromuscular Disorders.

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

Francesco Muntoni, Jim Stalker, Rahul Phadke, 2013, JAMA neurology.

M. Main, F. Muntoni, D. Ridout, 2020, Annals of clinical and translational neurology.

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy

K. Bushby, F. Muntoni, Hanns Lochmüller, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Making sense of missense variants in TTN-related congenital myopathies

F. Muntoni, M. Gautel, I. Richard, 2021, Acta Neuropathologica.

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy

A. Sarkozy, R. Phadke, Schaida Schirwani, 2020, Neuromuscular Disorders.

Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy

Laura C. Greaves, Robert W. Taylor, F. Muntoni, 2014, The Journal of experimental medicine.

Spinal Stenosis in Familial Transthyretin Amyloidosis.

D. Choi, Sachit Shah, P. Hawkins, 2019, Journal of neuromuscular diseases.

Strawberries on the brain--intracranial capillary hemangioma: two case reports and systematic literature review in children and adults.

G. Plant, L. Zrinzo, N. Kitchen, 2013, World neurosurgery.

Plurihormonal pituitary adenoma with concomitant adrenocorticotropic hormone (ACTH) and growth hormone (GH) secretion: a report of two cases and review of the literature

Z. Jaunmuktane, R. Phadke, Michael J. Powell, 2013, Acta Neurochirurgica.

Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy

Nick C Fox, J. Schott, J. Rohrer, 2017, Neurology: Genetics.

Vacuolar myelopathy associated with optic neuropathy in an HIV-negative, immunosuppressed liver transplant recipient

T. Jacques, T. Révész, S. Stacpoole, 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

A thoracic extradural chordoid meningioma: a unique case report and literature review

I. Tulloch, R. Phadke, C. Hardwidge, 2020, British journal of neurosurgery.

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology

E. Hoffman, F. Muntoni, N. Datson, 2019, Journal of neuromuscular diseases.

Myopathology of Adult and Paediatric Mitochondrial Diseases

R. Phadke, 2017, Journal of clinical medicine.

Bi‐allelic mutations in MYL1 cause a severe congenital myopathy

A. Forrest, F. Muntoni, G. Ravenscroft, 2018, Human molecular genetics.

Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy

F. Muntoni, M. Reilly, P. Munot, 2018, Neuromuscular Disorders.

Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes disease

C. Hoskote, M. Reilly, F. Bremner, 2022, Practical Neurology.

First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood

F. Muntoni, D. O’Donovan, P. Ostrowski, 2020, Neuromuscular Disorders.

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

Nick C Fox, M. Rossor, S. Cronin, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Qualitative Ultrasound in Acute Critical Illness Muscle Wasting

M. Mcphail, P. Sidhu, Z. Puthucheary, 2015, Critical Care Medicine.

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

J. Holton, H. Houlden, M. Reilly, 2019, Neuromuscular Disorders.

Acute Skeletal MuscleWasting in Critical Illness

Chibeza C. Agley, M. Mcphail, N. Hopkinson, 2013 .

Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice

H. Houlden, P. Syrris, B. Küsters, 2022, Journal of the American Heart Association.

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits

J. Stevens, M. Reilly, P. Giunti, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

F. Muntoni, Silvio Alessandro Di Gioia, A. O’Donnell-Luria, 2022, Human mutation.

The phenomenon of disproportionate antecollis in Parkinson's disease and multiple system atrophy

N. Quinn, K. Bhatia, C. Cordivari, 2007, Movement disorders : official journal of the Movement Disorder Society.

Metastatic choriocarcinoma

R. Howard, U. Vivekananda, R. Phadke, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

An extended chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids phenotype

R. Howard, R. Phadke, C. Lane, 2014, BMJ Case Reports.

Pupillary dysfunction in an atypical case of mitochondrial myopathy with tubular aggregates.

G. Plant, J. Holton, M. Sweeney, 2010, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies

F. Muntoni, F. Catapano, C. Sewry, 2020, Acta Neuropathologica Communications.

DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children

F. Muntoni, Jacqueline A Palace, A. Manzur, 2013, Neuromuscular Disorders.

Spinal Stenosis in Familial Transthyretin Amyloidosis

D. Choi, A. Carr, A. Wechalekar, 2019, Journal of Neuromuscular Diseases.

Tissue pathways for non-neoplastic neuropathology specimens

M. Thom, T. Jacques, J. Holton, 2015 .

Astrovirus Infection in an Immunocompromised Adult With Encephalitis by Unbiased Next-Generation Sequencing

V. Gant, K. Peggs, J. Garson, 2015 .

Neurofibrillary tangle pathology and Braak staging in chronic epilepsy in relation to traumatic brain injury and hippocampal sclerosis: a post-mortem study

L. Martinian, S. Sisodiya, M. Thom, 2011, Brain : a journal of neurology.

BAG3 mutations: another cause of giant axonal neuropathy

F. Muntoni, S. Brandner, M. Reilly, 2012, Journal of the peripheral nervous system : JPNS.

P17 Whole exome sequencing in patients with congenital myopathies

F. Muntoni, C. Sewry, Lucy Feng, 2014, Neuromuscular Disorders.

Metastatic renal cell carcinoma metastasising into a cerebral cavernous malformation

N. Kitchen, J. Shapey, R. Phadke, 2017, Neuropathology and applied neurobiology.

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits

J. Stevens, M. Reilly, P. Giunti, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

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

A. Rossor, R. Phadke, M. D. Visser, 2015, Neurology.

Propensity-Matching Analysis Is Not Straightforward

Paul S. Sidhu, P Meersseman, Sathy Sj, 2014 .

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome

M. Kinali, V. Salpietro, K. McElreavey, 2015, Journal of Genetics.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Beryl B. Cummings, Kristen M. Laricchia, A. O’Donnell-Luria, 2024, Nature genetics.