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Items: 1 to 50 of 245

1.

Endovascular biopsy in Takayasu arteritis.

Singh V, Naik S, Robert J, Phadke RV, Agarwal V, Bhoi SK.

Eur J Rheumatol. 2018 Dec 18;6(3):155-157. doi: 10.5152/eurjrheum.2018.18057.

2.

Perfusion MRI may facilitate the diagnosis of a tumefactive demyelinating lesion.

Naik S, Bhoi SK, Agarwal V, Kumar S, Phadke RV.

Neurol India. 2019 May-Jun;67(3):908-910. doi: 10.4103/0028-3886.263196. No abstract available.

3.

Detection and Evaluation of Intracranial Aneurysms in the Posterior Fossa by Multidetector Computed Tomography Angiography - Comparison with Digital Subtraction Angiography.

Singh V, Vignesh S, Neyaz Z, Phadke RV, Mehrotra A, Mishra P.

Asian J Neurosurg. 2019 Apr-Jun;14(2):491-498. doi: 10.4103/ajns.AJNS_290_18.

4.

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

Ardicli D, Sarkozy A, Zaharieva I, Deshpande C, Bodi I, Siddiqui A, U-King-Im JM, Selfe A, Phadke R, Jungbluth H, Muntoni F.

Neuromuscul Disord. 2019 Jun;29(6):448-455. doi: 10.1016/j.nmd.2019.03.011. Epub 2019 Mar 27.

PMID:
31130378
5.

Myopathology of Congenital Myopathies: Bridging the Old and the New.

Phadke R.

Semin Pediatr Neurol. 2019 Apr;29:55-70. doi: 10.1016/j.spen.2019.01.007. Epub 2019 Feb 10.

PMID:
31060726
6.

Spinal Stenosis in Familial Transthyretin Amyloidosis.

Carr AS, Shah S, Choi D, Blake J, Phadke R, Gilbertson J, Whelan CJ, Wechalekar AD, Gillmore JD, Hawkins PN, Reilly MM.

J Neuromuscul Dis. 2019;6(2):267-270. doi: 10.3233/JND-180348.

PMID:
30856118
7.

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

Aartsma-Rus A, Morgan J, Lonkar P, Neubert H, Owens J, Binks M, Montolio M, Phadke R, Datson N, Van Deutekom J, Morris GE, Rao VA, Hoffman EP, Muntoni F, Arechavala-Gomeza V; workshop participants.

J Neuromuscul Dis. 2019;6(1):147-159. doi: 10.3233/JND-180357.

8.

Superselective vesical artery embolization in the management of intractable hematuria secondary to hemorrhagic cystitis.

Mohan S, Kumar S, Dubey D, Phadke RV, Baijal SS, Kathuria M.

World J Urol. 2018 Dec 17. doi: 10.1007/s00345-018-2604-0. [Epub ahead of print]

PMID:
30560299
9.

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

Hafner P, Phadke R, Manzur A, Smith R, Jaiser S, Schutz P, Sewry C, Muntoni F, Pitt M.

Neuromuscul Disord. 2019 Jan;29(1):14-20. doi: 10.1016/j.nmd.2018.10.003. Epub 2018 Oct 31.

PMID:
30559040
10.

Dynamic magnetic resonance imaging parameters for objective assessment of the magnitude of tethered cord syndrome in patients with spinal dysraphism.

Singh S, Behari S, Singh V, Bhaisora KS, Haldar R, Krishna Kumar G, Mishra P, Phadke RV.

Acta Neurochir (Wien). 2019 Jan;161(1):147-159. doi: 10.1007/s00701-018-3721-7. Epub 2018 Nov 20.

PMID:
30456429
11.

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

Sampedro Castañeda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marques Caldas V, Conti Reed U, da Silva AMS, O'Callaghan B, Phadke R, Bugiardini E, Sud R, McCall S, Hanna MG, Poulsen H, Männikkö R, Matthews E.

Brain. 2018 Dec 1;141(12):3308-3318. doi: 10.1093/brain/awy283.

12.

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F.

Hum Mol Genet. 2018 Dec 15;27(24):4263-4272. doi: 10.1093/hmg/ddy320.

PMID:
30215711
13.

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

Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F.

Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11.

PMID:
30168660
14.

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.

Ullmann U, D'Argenzio L, Mathur S, Whyte T, Quinlivan R, Longman C, Farrugia ME, Manzur A, Willis T, Jungbluth H, Pitt M, Cirak S; UK10K consortium, Feng L, Stewart W, Mein R, Phadke R, Sewry C, Sarkozy A, Muntoni F.

Neuromuscul Disord. 2018 Sep;28(9):741-749. doi: 10.1016/j.nmd.2018.05.012. Epub 2018 Jun 30.

PMID:
30131190
15.

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

Silwal A, Pitt M, Phadke R, Mankad K, Davison JE, Rossor A, DeVile C, Reilly MM, Manzur AY, Muntoni F, Munot P.

Neuromuscul Disord. 2018 Sep;28(9):757-765. doi: 10.1016/j.nmd.2018.06.001. Epub 2018 Jun 12.

16.

Endovascular treatment of ruptured pica aneurysms and association with its extradural origin: A single-center experience.

Mittal S, Singh V, Phadke RV, Neyaz Z.

Indian J Radiol Imaging. 2018 Apr-Jun;28(2):232-238. doi: 10.4103/ijri.IJRI_318_17.

17.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

18.

Role of MR spectroscopy in diagnosis of intracranial neuroenteric cyst.

Phadke RV, Naik S, Udiya A, Shetty GS, Singh V, Bhoi SK.

Childs Nerv Syst. 2018 Sep;34(9):1791-1794. doi: 10.1007/s00381-018-3802-1. Epub 2018 Apr 20.

PMID:
29679196
19.

Papilledema revisiting after sinus angioplasty of chronic cerebral venous sinus thrombosis.

Jain VK, Singh V, Kannaujia V, Mishra P, Phadke RV, Sharma K.

Indian J Ophthalmol. 2018 May;66(5):714-717. doi: 10.4103/ijo.IJO_930_17.

20.

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

Sardone V, Ellis M, Torelli S, Feng L, Chambers D, Eastwood D, Sewry C, Phadke R, Morgan JE, Muntoni F.

PLoS One. 2018 Mar 26;13(3):e0194540. doi: 10.1371/journal.pone.0194540. eCollection 2018.

21.

Parental mosaicism in RYR1-related Central Core Disease.

Marks S, van Ruitenbeek E, Fallon P, Johns P, Phadke R, Mein R, Mohammed S, Jungbluth H.

Neuromuscul Disord. 2018 May;28(5):422-426. doi: 10.1016/j.nmd.2018.02.011. Epub 2018 Feb 26.

PMID:
29576327
22.

Osmotic demyelination syndrome in the setting of hypernatremia.

Jain N, Phadke RV, Chauhan G, Ambesh SP.

Neurol India. 2018 Mar-Apr;66(2):559-560. doi: 10.4103/0028-3886.227332. No abstract available.

23.

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

Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F.

J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3.

PMID:
29437916
24.

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

Desikan M, Scalco RS, Manole A, Gardiner AR, Schapira AH, Lachmann RH, Houlden H, Holton JL, Phadke R, Quinlivan R.

Neuromuscul Disord. 2018 Apr;28(4):346-349. doi: 10.1016/j.nmd.2018.01.002. Epub 2018 Jan 10.

PMID:
29422440
25.

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F.

Nat Rev Neurol. 2018 Mar;14(3):151-167. doi: 10.1038/nrneurol.2017.191. Epub 2018 Feb 2. Review.

PMID:
29391587
26.

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

Tulloch I, Georges H, Phadke R, Hardwidge C.

Br J Neurosurg. 2018 Jan 22:1-3. doi: 10.1080/02688697.2018.1426721. [Epub ahead of print]

PMID:
29355032
27.

Clinical significance of magnetic resonance imaging findings in chronic low backache.

Kohat AK, Kalita J, Ramanivas S, Misra UK, Phadke RV.

Indian J Med Res. 2017 Jun;145(6):796-803. doi: 10.4103/ijmr.IJMR_1653_14.

28.

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

Hill NE, Murphy KG, Saeed S, Phadke R, Chambers D, Wilson DR, Brett SJ, Singer M.

PLoS One. 2017 Aug 10;12(8):e0182659. doi: 10.1371/journal.pone.0182659. eCollection 2017.

29.

Pontine Hemorrhage Causing Bilateral Hypertrophic Olivary Degeneration.

Naik S, Phadke RV, Agarwal V, Singh V, Bhoi SK.

J Neurosci Rural Pract. 2017 Jul-Sep;8(3):498-500. doi: 10.4103/jnrp.jnrp_303_16. No abstract available.

30.

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

Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, Mein R, Yau M, Phadke R, Feng L, Sewry C, Fen ANS, Longman C, McCullagh G, Straub V, Robb S, Manzur A, Bushby K, Muntoni F.

Neuromuscul Disord. 2017 Sep;27(9):793-803. doi: 10.1016/j.nmd.2017.06.008. Epub 2017 Jun 16.

PMID:
28688748
31.

Myopathology of Adult and Paediatric Mitochondrial Diseases.

Phadke R.

J Clin Med. 2017 Jul 4;6(7). pii: E64. doi: 10.3390/jcm6070064. Review.

32.

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

Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D.

Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6.

33.

Dynamic Contrast-Enhanced Magnetic Resonance Imaging in Diagnosis of Cavernous Hemangioma of Cavernous Sinus.

Naik S, Phadke RV, Taunk A, Singh V, Bhoi SK.

J Neurosci Rural Pract. 2017 Apr-Jun;8(2):311-313. doi: 10.4103/0976-3147.203832. No abstract available.

34.

Anterior spinal artery aneurysm in aortic stenosis of different etiology: Report of three cases.

Singh V, Naik S, Bhoi SK, Phadke RV.

Neuroradiol J. 2017 Apr;30(2):180-185. doi: 10.1177/1971400917690008. Epub 2017 Jan 1.

35.

Three-dimensional visualization of intracranial tumors with cortical surface and vasculature from routine MR sequences.

Neyaz Z, Phadke RV, Singh V, Godbole C.

Neurol India. 2017 Mar-Apr;65(2):333-340. doi: 10.4103/neuroindia.NI_1167_16.

36.

Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.

Lakshmanan R, Adams ME, Lynch DS, Kinsella JA, Phadke R, Schott JM, Murphy E, Rohrer JD, Chataway J, Houlden H, Fox NC, Davagnanam I.

Neurol Genet. 2017 Feb 15;3(2):e135. doi: 10.1212/NXG.0000000000000135. eCollection 2017 Apr. Review.

37.

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

Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J.

Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9.

38.

A case report of rim enhancing lesion at the orbital apex.

Agarwal R, Kanaujia V, Mishra P, Phadke RV, Sharma K.

Orbit. 2017 Feb;36(1):27-29. doi: 10.1080/01676830.2017.1279644. Epub 2017 Feb 2.

PMID:
28152321
39.

Multicystic encephalomalacia secondary to head trauma.

Phadke RV, Agarwal V, Naik S.

J Neurosci Rural Pract. 2017 Jan-Mar;8(1):158-159. doi: 10.4103/0976-3147.193528. No abstract available.

40.

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J.

Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23.

PMID:
28012042
41.

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

Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, Tüfekçioglu Z, Hanagasi H, Burke G, Foulds N, Hammans SR, Bhattacharjee A, Wilson H, Adams M, Walker M, Nicoll JA, Chataway J, Fox N, Davagnanam I, Phadke R, Houlden H.

JAMA Neurol. 2016 Dec 1;73(12):1433-1439. doi: 10.1001/jamaneurol.2016.2229.

PMID:
27749956
42.

Epidural cerebrospinal fluid leak: A rare cause of upper limb amyotrophy - A report of two cases.

Phadke RV, Naik S, Muthu R, Shetty GS, Singh V, Kumar S.

J Neurosci Rural Pract. 2016 Oct-Dec;7(4):608-610. No abstract available.

43.

Metastatic renal cell carcinoma metastasising into a cerebral cavernous malformation.

Shapey J, Phadke R, Kitchen N.

Neuropathol Appl Neurobiol. 2017 Aug;43(5):455-457. doi: 10.1111/nan.12345. No abstract available.

PMID:
27566437
44.

Idiopathic ventral herniation of the spinal cord.

Naik S, Udiya AK, Shetty GS, Phadke RV, Singh V, Jain SK, Singhal S.

Neurol India. 2016 Jul-Aug;64(4):831-2. doi: 10.4103/0028-3886.185363. No abstract available.

45.

Endovascular treatment of A1 segment aneurysms.

Singh V, Phadke RV.

Neurol India. 2016 Jul-Aug;64(4):701-2. doi: 10.4103/0028-3886.185383. No abstract available.

46.

The "focus on aneurysm" principle: Classification and surgical principles of management of concurrent arterial aneurysm with arteriovenous malformation causing intracranial hemorrhage.

Jha V, Behari S, Jaiswal AK, Bhaisora KS, Shende YP, Phadke RV.

Asian J Neurosurg. 2016 Jul-Sep;11(3):240-54. doi: 10.4103/1793-5482.145340.

47.

Spinal extradural arachnoid cyst: A rare cause of neurogenic bladder.

Phadke RV, Agarwal V, Naik S.

J Neurosci Rural Pract. 2016 Jul-Sep;7(3):467-9. doi: 10.4103/0976-3147.182770. No abstract available.

48.

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

Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R.

Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11.

49.

Spinal arteriovenous malformations: Is surgery indicated?

Singh B, Behari S, Jaiswal AK, Sahu RN, Mehrotra A, Mohan BM, Phadke RV.

Asian J Neurosurg. 2016 Apr-Jun;11(2):134-42. doi: 10.4103/1793-5482.177663.

50.

Traumatic aneurysms of the intracranial and cervical vessels: A review.

Bhaisora KS, Behari S, Godbole C, Phadke RV.

Neurol India. 2016 Mar-Apr;64 Suppl:S14-23. doi: 10.4103/0028-3886.178032. Review.

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