Pinki Munot

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner, Norma B. Romero, Sandra Donkervoort et al. · Acta Neuropathologica · 2016 · 132 citations · Full text

Congenital Myopathy, Mendelian Disorder, Degenerative Disease +1

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

Pinki Munot, Dawn E. Saunders, Dianna M. Milewicz et al. · Brain · 2012 · 130 citations · Full text

Vascular Disease, Genetics, Genetic Epidemiology +23

Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene Mutations

Andrea Klein, Heinz Jungbluth, Emma Clement et al. · Archives of Neurology · 2011 · 95 citations

Childhood optic neuritis clinical features and outcome

Michael Absoud, Carole Cummins, Nivedita Desai et al. · Archives of Disease in Childhood · 2010 · 83 citations

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

Pinki Munot, Daniel Lashley, Heinz Jungbluth et al. · Neuromuscular Disorders · 2010 · 64 citations

Developmental Biology, Genetic Disorder, Genetics +4