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1

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

Sarkozy, Anna, Torelli, Silvia, Mein, Rachael, Henderson, Matt, Phadke, Rahul, Feng, Lucy, Sewry, Caroline, Ala, Pierpaolo, Yau, Michael, Bertoli, Marta, Willis, Tracey, Hammans, Simon, Manzur, Adnan,

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2018

Language:

english

File:

PDF, 517 KB

english, 2018

2

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

Sardone, Valentina, Ellis, Matthew, Torelli, Silvia, Feng, Lucy, Chambers, Darren, Eastwood, Deborah, Sewry, Caroline, Phadke, Rahul, Morgan, Jennifer E., Muntoni, Francesco, Asakura, Atsushi

Journal:

Year:

2018

Language:

english

File:

PDF, 18.29 MB

english, 2018

3

Slip regulation for anti-lock braking systems using multiple surface sliding controller combined with inertial delay control

Verma, Rahul, Ginoya, Divyesh, Shendge, P.D., Phadke, S.B.

Journal:

Vehicle System Dynamics

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

4

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

Bart P.C. van de Warrenburg, Carla Cordivari, Aisling M. Ryan, Rahul Phadke, Janice L. Holton, Kailash P. Bhatia, Mike G. Hanna, Niall P. Quinn

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 78 KB

english, 2007

5

BAG3 mutations: another cause of giant axonal neuropathy

Fatima Jaffer, Sinéad M. Murphy, Mariacristina Scoto, Estelle Healy, Alexander M. Rossor, Sebastian Brandner, Rahul Phadke, Duygu Selcen, Heinz Jungbluth, Francesco Muntoni, Mary M. Reilly

Journal:

Journal of the Peripheral Nervous System

Year:

2012

Language:

english

File:

PDF, 701 KB

english, 2012

6

Light trapping in thin-film silicon solar cells with submicron surface texture

Dewan, Rahul, Marinkovic, Marko, Noriega, Rodrigo, Phadke, Sujay, Salleo, Alberto, Knipp, Dietmar

Journal:

Year:

2009

Language:

english

File:

PDF, 307 KB

english, 2009

7

Mature teratoma arising from the middle cranial fossa

Rahul S Phadke, Asha S Shenoy, Anjana Hosangadi, Trimurti D Nadkarni

Journal:

Annals of Diagnostic Pathology

Year:

2004

Language:

english

File:

PDF, 442 KB

english, 2004

8

Ruptured amoebic liver abscess with amoebic colitis

Rahul S Phadke, Anjali D Amarapurkar

Journal:

Journal of Hepatology

Year:

2003

Language:

english

File:

PDF, 149 KB

english, 2003

9

Plasmodium vivax: C-terminal diversity in the blood stage SERA genes from Indian field isolates

Rahul, C.N., Shiva Krishna, K., Meera Bai, N., Kumar, Vijay, Phadke, Sandhya, Rajesh, Vidya

Journal:

Experimental Parasitology

Year:

2013

Language:

english

File:

PDF, 1.98 MB

english, 2013

10

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

Logan, Clare V, Szabadkai, György, Sharpe, Jenny A, Parry, David A, Torelli, Silvia, Childs, Anne-Marie, Kriek, Marjolein, Phadke, Rahul, Johnson, Colin A, Roberts, Nicola Y, Bonthron, David T, Pysden

Journal:

Nature Genetics

Year:

2013

Language:

english

File:

PDF, 981 KB

english, 2013

11

Strawberries on the Brain—Intracranial Capillary Hemangioma: Two Case Reports and Systematic Literature Review in Children and Adults

Mirza, Bilal, Shi, William Y., Phadke, Rahul, Holton, Janice L., Turner, Chris, Plant, Gordon T., Brew, Stefan, Kitchen, Neil, Zrinzo, Ludvic

Journal:

World Neurosurgery

Year:

2013

Language:

english

File:

PDF, 1.93 MB

english, 2013

12

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

Chan, Sophelia H.S., Foley, A. Reghan, Phadke, Rahul, Mathew, Ann Agnes, Pitt, Matthew, Sewry, Caroline, Muntoni, Francesco

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1.35 MB

english, 2014

13

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

Rasul, Fahid Tariq, Jaunmuktane, Zane, Khan, Akbar Ali, Phadke, Rahul, Powell, Michael

Journal:

Acta Neurochirurgica

Year:

2014

Language:

english

File:

PDF, 757 KB

english, 2014

14

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

Klein, Andrea, Pitt, Matthew C., McHugh, John C., Niks, Erik H., Sewry, Caroline A., Phadke, Rahul, Feng, Lucy, Manzur, Adnan Y., Tirupathi, Sandya, DeVile, Catherine, Jayawant, Sandeep, Finlayson, Sa

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 645 KB

english, 2013

15

Genetic and structural characterization of PvSERA4: potential implication as therapeutic target for Plasmodium vivax malaria

Rahul, C.N., Shiva Krishna, K., Pawar, Atul P., Bai, Meera, Kumar, Vijay, Phadke, Sandhya, Rajesh, Vidya

Journal:

Journal of Biomolecular Structure and Dynamics

Year:

2014

Language:

english

File:

PDF, 1.01 MB

english, 2014

16

Zellweger syndrome and secondary mitochondrial myopathy

Salpietro, Vincenzo, Phadke, Rahul, Saggar, Anand, Hargreaves, Iain P., Yates, Robert, Fokoloros, Christos, Mankad, Kshitij, Hertecant, Jozef, Ruggieri, Martino, McCormick, David, Kinali, Maria

Journal:

European Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 4.84 MB

english, 2015

17

[IEEE 2014 Annual IEEE India Conference (INDICON) - Pune, India (2014.12.11-2014.12.13)] 2014 Annual IEEE India Conference (INDICON) - Characteristics of HRV patterns for different Yoga postures

Pitale, Rahul, Tajane, Kapil, Phadke, Leena, Joshi, Aniruddha, Umale, Jayant

Year:

2014

Language:

english

File:

PDF, 1.60 MB

english, 2014

18

Plasmodium vivax: N-terminal diversity in the blood stage SERA genes from Indian isolates

Rahul, C.N., Shiva Krishna, K., Meera, M., Phadke, Sandhya, Rajesh, Vidya

Journal:

Blood Cells, Molecules, and Diseases

Year:

2015

Language:

english

File:

PDF, 465 KB

english, 2015

19

Pupillary Dysfunction in an Atypical Case of Mitochondrial Myopathy With Tubular Aggregates

Ali, Nadeem, Woodward, Catherine E, Sweeney, Mary, Phadke, Rahul, Holton, Janice L, Acheson, James, Plant, Gordon T, Bremner, Fion D

Journal:

Journal of Neuro-Ophthalmology

Year:

2010

Language:

english

File:

PDF, 327 KB

english, 2010

20

[IEEE 2014 International Conference on Advances in Computing, Communications and Informatics (ICACCI) - Delhi, India (2014.9.24-2014.9.27)] 2014 International Conference on Advances in Computing, Communications and Informatics (ICACCI) - To study non linear features in circadian heart rate variability amongst healthy subjects

Tajane, Kapil, Pitale, Rahul, Phadke, Leena, Joshi, Aniruddha, Umale, Jayant

Year:

2014

Language:

english

File:

PDF, 1.69 MB

english, 2014

21

Characterization of sequence diversity in Plasmodium falciparum SERA5 from Indian isolates

Rahul, C.N, Krishna, K Shiva, Meera, M, Phadke, Sandhya, Rajesh, Vidya

Journal:

Asian Pacific Journal of Tropical Disease

Year:

2015

Language:

english

File:

PDF, 1.42 MB

english, 2015

22

Detailed Characterization of a Long-Term Rodent Model of Critical Illness and Recovery

Hill, Neil E., Saeed, Saima, Phadke, Rahul, Ellis, Matthew J., Chambers, Darren, Wilson, Duncan R., Castells, Josiane, Morel, Jerome, Freysennet, Damien G., Brett, Stephen J., Murphy, Kevin G., Singer

Journal:

Critical Care Medicine

Year:

2015

Language:

english

File:

PDF, 2.29 MB

english, 2015

23

SPINAL STENOSIS IN FAMILIAL TRANSTHYRETIN AMYLOIDOSIS

Carr, Aisling, Evans, Matthew, Pelayo-Negro, Ana, Shah, Sachit, Choi, David, Blake, Julian, Phadke, Rahul, Gilmore, JD, Hawkins, PN, Reilly, Mary

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2015

Language:

english

File:

PDF, 47 KB

english, 2015

24

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

Rossor, Alexander M., Oates, Emily C., Salter, Hannah K., Liu, Yang, Murphy, Sinead M., Schule, Rebecca, Gonzales, Michael A., Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A., Houlden, Henry,

Journal:

Year:

2015

Language:

english

File:

PDF, 144 KB

english, 2015

25

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

STEEL, DORA, SALPIETRO, VINCENZO, PHADKE, RAHUL, PITT, MATTHEW, GENTILE, GIULIA, MASSOUD, AHMED, BATTEN, LEIGH, BASHAMBOO, ANU, MCELREAVEY, KEN, SAGGAR, ANAND, KINALI, MARIA

Journal:

Journal of Genetics

Year:

2015

Language:

english

File:

PDF, 369 KB

english, 2015

26

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

Pavlidou, Efterpi, Salpietro, Vincenzo, Phadke, Rahul, Hargreaves, Iain P., Batten, Leigh, McElreavy, Kenneth, Pitt, Matthew, Mankad, Kshitij, Wilson, Clare, Cutrupi, Maria Concetta, Ruggieri, Martino

Journal:

European Journal of Paediatric Neurology

Year:

2016

Language:

english

File:

PDF, 1.60 MB

english, 2016

27

Choline Kinase Beta–Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging

De Goede, Christian, Oh, Teik, Joseph, Jacob, Muntoni, Francesco, Sewry, Caroline, Phadke, Rahul

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 1.26 MB

english, 2016

28

Qualitative Ultrasound in Acute Critical Illness Muscle Wasting

Puthucheary, Zudin A., Phadke, Rahul, Rawal, Jaikitry, McPhail, Mark J. W., Sidhu, Paul S., Rowlerson, Anthea, Moxham, John, Harridge, Stephen, Hart, Nicholas, Montgomery, Hugh E.

Journal:

Critical Care Medicine

Year:

2015

Language:

english

File:

PDF, 957 KB

english, 2015

29

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

Wiessner, Manuela, Roos, Andreas, Munn, Christopher J., Viswanathan, Ranjith, Whyte, Tamieka, Cox, Dan, Schoser, Benedikt, Sewry, Caroline, Roper, Helen, Phadke, Rahul, Marini Bettolo, Chiara, Barresi

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.04 MB

english, 2017

30

Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy

Lakshmanan, Rahul, Adams, Matthew E., Lynch, David S., Kinsella, Justin A., Phadke, Rahul, Schott, Jonathan M., Murphy, Elaine, Rohrer, Jonathan D., Chataway, Jeremy, Houlden, Henry, Fox, Nick C., Dav

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 627 KB

english, 2017

31

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

Nasca, Alessia, Scotton, Chiara, Zaharieva, Irina, Neri, Marcella, Selvatici, Rita, Magnusson, Olafur Thor, Gal, Aniko, Weaver, David, Rossi, Rachele, Armaroli, Annarita, Pane, Marika, Phadke, Rahul,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.59 MB

english, 2017

32

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

Sframeli, Maria, Sarkozy, Anna, Bertoli, Marta, Astrea, Guja, Hudson, Judith, Scoto, Mariacristina, Mein, Rachael, Yau, Michael, Phadke, Rahul, Feng, Lucy, Sewry, Caroline, Fen, Adeline Ngoh Seow, Lon

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 856 KB

english, 2017

33

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)

Desikan, Mahalekshmi, Scalco, Renata Siciliani, Manole, Andreea, Gardiner, Alice R., Schapira, Anthony H., Lachmann, Robin H., Houlden, Henry, Holton, Janice L., Phadke, Rahul, Quinlivan, Ros

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 877 KB

english, 2018

34

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

Tulloch, Isabel, Georges, Husam, Phadke, Rahul, Hardwidge, Carl

Journal:

British Journal of Neurosurgery

Year:

2018

Language:

english

File:

PDF, 850 KB

english, 2018

35

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

Jungbluth, Heinz, Treves, Susan, Zorzato, Francesco, Sarkozy, Anna, Ochala, Julien, Sewry, Caroline, Phadke, Rahul, Gautel, Mathias, Muntoni, Francesco

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Year:

2018

Language:

english

File:

PDF, 2.11 MB

english, 2018

36

PO202 Natural history study in hereditary sensory neuropathy type 1

Kugathasan, Umayial, Laura, Matilde, Evans, Matthew, Morrow, Jasper, Thornton, John, Hornemann, Thorsten, Phadke, Rahul, Lauria, Giuseppe, Blake, Julian, Reilly, Mary M

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

37

Impact of ghrelin on body composition and muscle function in a long-term rodent model of critical illness

Hill, Neil E., Murphy, Kevin G., Saeed, Saima, Phadke, Rahul, Chambers, Darren, Wilson, Duncan R., Brett, Stephen J., Singer, Mervyn, Alway, Stephen E.

Journal:

Year:

2017

Language:

english

File:

PDF, 6.80 MB

english, 2017

38

Myopathology of Adult and Paediatric Mitochondrial Diseases

Journal:

Journal of Clinical Medicine

Year:

2017

Language:

english

File:

PDF, 300 KB

english, 2017

39

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

Ravenscroft, Gianina, Zaharieva, Irina, Bortolotti, Carlo A, Lambrughi, Matteo, Pignataro, Marcello, Borsari, Marco, Sewry, Caroline A, Phadke, Rahul, Haliloglu, Goknur, Ong, Royston, Goullée, Hayley,

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 661 KB

english, 2018

40

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

Hafner, Patricia, Phadke, Rahul, Manzur, Adnan, Smith, Ralph, Jaiser, Stephan, Schutz, Peter, Sewry, Caroline, Muntoni, Francesco, Pitt, Matthew

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 788 KB

english, 2018

41

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

Sampedro Castañeda, Marisol, Zanoteli, Edmar, Scalco, Renata S, Scaramuzzi, Vinicius, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, O’Callaghan, Benjamin, Phadke, Rahul

Journal:

Year:

2018

Language:

english

File:

PDF, 1.49 MB

english, 2018

42

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

Aartsma-Rus, Annemieke, Morgan, Jennifer, Lonkar, Pallavi, Neubert, Hendrik, Owens, Jane, Binks, Michael, Montolio, Marisol, Phadke, Rahul, Datson, Nicole, Van Deutekom, Judith, Morris, Glenn E., Rao,

Journal:

Journal of Neuromuscular Diseases

Year:

2019

Language:

english

File:

PDF, 123 KB

english, 2019

43

Myopathology of congenital myopathies: bridging the old and the new

Phadke, Dr Rahul

Journal:

Seminars in Pediatric Neurology

Year:

2019

File:

PDF, 919 KB

2019

44

Myopathology of congenital myopathies: bridging the old and the new

Phadke, Dr Rahul

Journal:

Seminars in Pediatric Neurology

Year:

2019

Language:

english

File:

PDF, 919 KB

english, 2019

45

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

Bugiardini, Enrico, Khan, Alaa, Phadke, Rahul, Lynch, David S., Cortese, Andrea, Feng, Lucy, Gang, Qiang, Pittman, Alan M., Morrow, Jasper M., Turner, Chris, Carr, Aisling S., Quinlivan, Ros, Rossor,

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 1.02 MB

english, 2019

46

Thoraco-abdominal impalement injury with two construction iron bars â A rare case report

Sankpal, Jitendra, Rahul, Kushagra, Phadke, Aditya, Sankpal, Sushrut

Journal:

International Journal of Surgery Case Reports

Year:

2020

File:

PDF, 262 KB

2020

47

Thoraco-abdominal impalement injury with two construction ironbars â A rare case report

Sankpal, Jitendra, Rahul, Kushagra, Phadke, Aditya, Sankpal, Sushrut

Journal:

International Journal of Surgery Case Reports

Year:

2020

Language:

english

File:

PDF, 805 KB

english, 2020

48

RBCK1 -related disease: A rare multisystem disorder with polyglucosan storage, autoinflammation, recurrent infections, skeletal and cardiac myopathy - four additional patients and a review of the current literature

Phadke, Rahul, Hedberg-Oldfors, Carola, Scalco, Renata S., Lowe, David M., Ashworth, Michael, Novelli, Marco, Vara, Roshni, Merwick, Aine, Amer, Halima, Sofat, Reecha, Sugarman, Max, Jovanovic, Ana, R

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

Language:

english

File:

PDF, 2.13 MB

english, 2020

49

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

Scaglioni, Dominic, Ellis, Matthew, Catapano, Francesco, Torelli, Silvia, Chambers, Darren, Feng, Lucy, Sewry, Caroline, Morgan, Jennifer, Muntoni, Francesco, Phadke, Rahul

Journal:

Acta Neuropathologica Communications

Year:

2020

File:

PDF, 2.49 MB

2020

50

First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood

Pizzamiglio, Chiara, Lahiri, Nayana, Nirmalananthan, Niranjanan, Sood, Bhrigu, Somalanka, Subash, Ostrowski, Philip, Phadke, Rahul, O'Donovan, Dominic Gerard, Muntoni, Francesco, Quinlivan, Rosaline

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 964 KB

2020