Physician

Neurology

Dr. Ami K. Mankodi, MD

Dr. Ami K. Mankodi practices Neurology. Doctor Ami K. Mankodi, MD is also published. She has 23 publications published. The lastest publication: "Diagnostic role of Mantoux test site biopsy in neurosarcoidosis.'

Publications

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
Results of a two-year pilot study of clinical outcome measures in collagen VI-related myopathy and LAMA2-related muscular dystrophy.
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.
A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance.
'Double trouble': Diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia.
Solitary plasmacytoma presenting as peripheral neuropathy: a case report.
Acute and reversible parkinsonism due to organophosphate pesticide intoxication: five cases.
Diagnostic role of Mantoux test site biopsy in neurosarcoidosis.
Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy.
Myotonic disorders.
Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy.
Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1.
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.
Nuclear RNA foci in the heart in myotonic dystrophy.
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.
Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2.
A muscleblind knockout model for myotonic dystrophy.
Echo of silence: silent mutations, RNA splicing, and neuromuscular diseases.
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
Myotonic syndromes.
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.

Doctors Specialties

Neurology

Accepted Insurances

Education

Johns Hopkins University

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