P
Pinki Munot
Researcher at Great Ormond Street Hospital
Publications - 56
Citations - 838
Pinki Munot is an academic researcher from Great Ormond Street Hospital. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 11, co-authored 41 publications receiving 604 citations. Previous affiliations of Pinki Munot include Great Ormond Street Hospital for Children NHS Foundation Trust & UCL Institute of Child Health.
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Journal ArticleDOI
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
Pinki Munot,Dawn E. Saunders,Dianna M. Milewicz,Ellen S. Regalado,John R. Østergaard,Kees P.J. Braun,Timothy Kerr,Klaske D. Lichtenbelt,Sunny Philip,Christopher D. Rittey,Thomas S. Jacques,Thomas S. Jacques,Timothy C. Cox,Vijeya Ganesan,Vijeya Ganesan +14 more
TL;DR: The observation that transition from dilated to normal/stenotic arterial calibre coincides with where the internal carotid artery changes from an elastic to muscular artery supports the hypothesis that abnormal smooth muscle cell proliferation caused by ACTA2 mutations is modulated by arterial wall components.
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Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations
Andrea Klein,Heinz Jungbluth,Emma Clement,S. Lillis,Stephen Abbs,Pinki Munot,Marika Pane,Elizabeth Wraige,Ulrike Schara,Volker Straub,Eugenio Mercuri,Eugenio Mercuri,Francesco Muntoni +12 more
TL;DR: The results suggest that muscle MRI is a powerful predictor of RYR1 involvement in patients with a congenital myopathy, especially if they carry a dominant mutation or recessive mutations without ophthalmoparesis.
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Vanessa Schartner,Norma B. Romero,Sandra Donkervoort,Susan Treves,Pinki Munot,Tyler Mark Pierson,Ivana Dabaj,Edoardo Malfatti,Irina Zaharieva,F Zorzato,Osorio Abath Neto,Guy Brochier,Xavière Lornage,Bruno Eymard,Ana Lia Taratuto,Johann Böhm,Hernan Gonorazky,Leigh Ramos-Platt,Lucy Feng,Rahul Phadke,Diana Bharucha-Goebel,Charlotte J. Sumner,Mai Thao Bui,Emmanuelle Lacène,Maud Beuvin,Clémence Labasse,Nicolas Dondaine,Raphaël Schneider,Julie D. Thompson,Anne Boland,Jean-François Deleuze,Emma Matthews,Aleksandra Nadaj Pakleza,Caroline Sewry,Valérie Biancalana,Susana Quijano-Roy,Francesco Muntoni,Michel Fardeau,Carsten G. Bönnemann,Jocelyn Laporte +39 more
TL;DR: A cohort of 11 patients from 7 families presenting with perinatal hypotonia, severe axial and generalized weakness is described, and exome sequencing revealed ten recessive or dominant mutations in CACNA1S, the pore-forming subunit of DHPR in skeletal muscle.
Journal ArticleDOI
Childhood optic neuritis clinical features and outcome
Michael Absoud,Carole Cummins,Nivedita Desai,Artemis Gika,Niamh McSweeney,Pinki Munot,Cheryl Hemingway,Ming K. Lim,Ken K. Nischal,Evangeline Wassmer +9 more
TL;DR: Clinical features and outcome of a series of children with first-episode optic neuritis investigated in three paediatric neurology centres are described to describe clinical features and result in a strong predictor for development of MS or NMO.
Journal ArticleDOI
Paediatric stroke: genetic insights into disease mechanisms and treatment targets
TL;DR: In this paper, the pathogenesis of childhood arterial ischaemic stroke and cerebral arteriopathy was investigated, provided by current knowledge of Mendelian diseases associated with an increased risk of these conditions.