Radhika Dhamija

Radhika Dhamija

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Radhika Dhamija

Radhika Dhamija

Publications by authors named "Radhika Dhamija"

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Updated Imaging Features of Dysplastic Cerebellar Gangliocytoma.

J Comput Assist Tomogr 2019 Mar/Apr;43(2):277-281

Division of Neuroradiology, Department of Radiology, Mayo Clinic, Phoenix, AZ.

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http://Insights.ovid.com/crossref?an=00004728-900000000-9917
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http://dx.doi.org/10.1097/RCT.0000000000000814DOI Listing
April 2019

Teaching Video NeuroImages: mutation presenting as chronic progressive external ophthalmoplegia.

Neurology 2019 01;92(4):e394

From the Departments of Neurology (A.M.P., S.H.M., R.D.), Ophthalmology (M.D.A.), and Clinical Genomics (R.D.), Mayo Clinic, Scottsdale, AZ.

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http://dx.doi.org/10.1212/WNL.0000000000006817DOI Listing
January 2019

A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.

Am J Med Genet A 2018 12 14;176(12):2846-2849. Epub 2018 Dec 14.

Department of Neurology, Mayo Clinic, Mayo Clinic, Scottsdale, Arizona.

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http://dx.doi.org/10.1002/ajmg.a.40626DOI Listing
December 2018

Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study.

Neurol Clin Pract 2018 Jun;8(3):207-213

Departments of Clinical Genomics (RD), Neurology (RD, ABP), and Radiology (Division of Neuroradiology) (LSH, JMH), Mayo Clinic, Phoenix, AZ; Department of Radiology (Division of Neuroradiology) (SMW), Mayo Clinic, Jacksonville, FL; and Department of Radiology (Division of Neuroradiology) (CPW), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1212/CPJ.0000000000000463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075984PMC
June 2018

Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome.

J Clin Res Pediatr Endocrinol 2018 Mar 2;10(1):79-82. Epub 2017 Aug 2.

Mayo Clinic, Department of Pediatric and Adolescent Medicine, Division of Pediatric Endocrinology, Rochester, Minnesota, USA.

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http://cms.galenos.com.tr/Uploads/Article_16760/JCRPE-10-79-
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http://dx.doi.org/10.4274/jcrpe.4807DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838377PMC
March 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

J Child Neurol 2017 Dec;32(14):1123-1124

2 Department of Neurology, University of Virginia, Charlottesville, VA, USA.

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http://dx.doi.org/10.1177/0883073817736702DOI Listing
December 2017

Autosomal recessive inheritance of -related generalized dystonia and myoclonus.

Neurol Genet 2017 Oct 25;3(5):193. Epub 2017 Sep 25.

Department of Neurology (M.J.B., C.C.), and Department of Pathology (E.S.W.), University of Virginia Health System, Charlottesville; and Department of Clinical Genomics and Neurology (R.D.), Mayo Clinic, Phoenix, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612768PMC
October 2017

Congenital Toxoplasmosis.

Pediatr Neurol 2017 May 20;70:81-82. Epub 2017 Jan 20.

Department of Neurology, University of Virginia, Charlottesville, Virginia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.01.012DOI Listing
May 2017

Clinical Reasoning: A 13-year-old boy with chronic ataxia and developmental delay.

Neurology 2017 03;88(13):e116-e121

From the Department of Neurology, University of Virginia, Charlottesville.

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http://dx.doi.org/10.1212/WNL.0000000000003768DOI Listing
March 2017

Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1.

Pediatr Neurol 2017 Jan 9;66:113-114. Epub 2016 Sep 9.

Department of Neurology, University of Virginia, Charlottesville, Virginia; Department of Pediatrics, University of Virginia, Charlottesville, Virginia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.08.020DOI Listing
January 2017

Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing.

Am J Med Genet A 2016 Dec 8;170(12):3359. Epub 2016 Sep 8.

Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine/Molecular Genetics Laboratory, Aurora, Colorado.

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http://doi.wiley.com/10.1002/ajmg.a.37869
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http://dx.doi.org/10.1002/ajmg.a.37869DOI Listing
December 2016

Teaching NeuroImages: Intracranial hypotension in a patient with Marfan syndrome.

Neurology 2016 07;87(4):e40-1

From the Departments of Neurology (A.A.L., R.D.) and Radiology and Medical Imaging (J.A.M.), University of Virginia, Charlottesville.

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http://dx.doi.org/10.1212/WNL.0000000000002896DOI Listing
July 2016

Review of Commercially Available Epilepsy Genetic Panels.

J Genet Couns 2016 Apr 5;25(2):213-7. Epub 2015 Nov 5.

Department of Neurology, University of Virginia, PO Box 800394, Charlottesville, VA, USA.

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http://dx.doi.org/10.1007/s10897-015-9906-9DOI Listing
April 2016

-Associated Movement Disorder.

Mov Disord Clin Pract 2016 Nov-Dec;3(6):615-617. Epub 2016 Mar 11.

Department of Neurology University of Virginia Charlottesville Virginia USA.

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http://dx.doi.org/10.1002/mdc3.12344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353469PMC
March 2016

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

J Med Genet 2016 Feb 2;53(2):123-6. Epub 2015 Sep 2.

Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103177DOI Listing
February 2016

A Patient With DNMT1 Gene Mutation Presenting With Polyneuropathy, Hearing Loss, and Personality Changes.

JAMA Otolaryngol Head Neck Surg 2016 Feb;142(2):193-4

Division of Pediatric Neurology, Department of Neurology, University of Virginia, Charlottesville5Division of Genetics and Metabolism, Department of Pediatrics, University of Virginia, Charlottesville.

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http://dx.doi.org/10.1001/jamaoto.2015.3137DOI Listing
February 2016

Clinical and Molecular Characterization of ALG1-CDG.

Pediatr Neurol Briefs 2016 Feb;30(2):14

Department of Neurology (Division of Pediatric Neurology), University of Virginia, Charlottesville, VA.

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http://dx.doi.org/10.15844/pedneurbriefs-30-2-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821836PMC
February 2016

Author Response.

Neurology 2015 Dec;85(24):2181

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December 2015

Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy.

Neurology 2015 Nov;85(18):1633-4

From the University of Virginia (R.D., D.S., M.B.S.L., B.B.W.), Charlottesville; the UCLA School of Medicine (J.C.J.), Los Angeles, CA; and the Johns Hopkins University School of Medicine (D.D.L.), Baltimore, MD.

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http://dx.doi.org/10.1212/WNL.0000000000002092DOI Listing
November 2015

Diagnostic NGS for Severe Neuromuscular Disorders.

Pediatr Neurol Briefs 2015 Nov;29(11):82

Division of Pediatric Neurology, Department of Neurology, University of Virginia, Charlottesville, VA.

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http://dx.doi.org/10.15844/pedneurbriefs-29-11-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747264PMC
November 2015

22q11.2 deletion syndrome presenting with early-onset Parkinson's disease.

Mov Disord 2015 Aug 21;30(9):1289-90. Epub 2015 Jul 21.

Department of Neurology, University of Virginia, Charlottesville, Virginia, USA.

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http://dx.doi.org/10.1002/mds.26305DOI Listing
August 2015

Teaching NeuroImages: Neurocutaneous melanosis.

Neurology 2015 Jun;84(24):e207

From the Departments of Neurology (M.K., R.D.) and Pediatrics, Division of Genetics and Metabolism (R.D.), University of Virginia, Charlottesville.

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http://www.neurology.org/content/74/19/e82.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000168
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http://dx.doi.org/10.1212/WNL.0000000000001689DOI Listing
June 2015

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.

Am J Med Genet A 2014 Sep 28;164A(9):2356-9. Epub 2014 May 28.

Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.36621DOI Listing
September 2014

A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis.

Semin Pediatr Neurol 2014 Jun 3;21(2):67-71. Epub 2014 Apr 3.

Department of Medical Genetics, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1016/j.spen.2014.04.003DOI Listing
June 2014

Recurrent episodes of weak spells in a 15-year-old boy.

Semin Pediatr Neurol 2014 Jun 13;21(2):91-4. Epub 2014 Apr 13.

Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2014.04.009DOI Listing
June 2014

Sleep abnormalities in children with Dravet syndrome.

Pediatr Neurol 2014 May 7;50(5):474-8. Epub 2014 Jan 7.

Department of Neurology, Mayo Clinic, Rochester, Minnesota; Center for Sleep Medicine, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.017DOI Listing
May 2014

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

Eur J Med Genet 2014 Mar 27;57(4):181-4. Epub 2014 Feb 27.

Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.009DOI Listing
March 2014

Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.

Pediatr Neurol 2013 Dec 26;49(6):486-8. Epub 2013 Aug 26.

Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.07.004DOI Listing
December 2013

The role of nocturnal polysomnography in assessing children with Chiari type I malformation.

Clin Neurol Neurosurg 2013 Sep 18;115(9):1837-41. Epub 2013 Jun 18.

Division of Child and Adolescent Neurology, Mayo Clinic, Rochester 55905, USA.

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http://dx.doi.org/10.1016/j.clineuro.2013.05.025DOI Listing
September 2013

Posttransplant lymphoproliferative disorder in an 11-year-old immunosuppressed boy.

Pediatr Neurol 2013 May;48(5):397-9

Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.12.018DOI Listing
May 2013

Ketogenic diet.

Can J Neurol Sci 2013 Mar;40(2):158-67

Division of Child and Adolescent Neurology, Mayo Clinic Children's Center, Rochester, MN, USA.

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http://dx.doi.org/10.1017/s0317167100013676DOI Listing
March 2013

Clinical reasoning: a 56-year-old man with progressive spasticity.

Neurology 2013 Feb;80(9):e84-8

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1212/WNL.0b013e3182840729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598456PMC
February 2013

Epilepsy in children--when should we think neurometabolic disease?

J Child Neurol 2012 May 28;27(5):663-71. Epub 2012 Feb 28.

Division of Child and Adolescent Neurology, Mayo Clinic Children's Center, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1177/0883073811435829DOI Listing
May 2012

Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.

Pediatr Neurol 2012 Feb;46(2):101-5

Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.11.007DOI Listing
February 2012

The cessation of continuous spike wave in slow-wave sleep following a temporal lobectomy.

J Child Neurol 2012 Jan 23;27(1):113-6. Epub 2011 Aug 23.

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1177/0883073811414708DOI Listing
January 2012

Burkitt lymphoma presenting as ptosis in a man with human immunodeficiency virus.

Am J Med Sci 2011 Nov;342(5):427-8

Department of Internal Medicine, Michigan State University/KCMS, Kalamazoo, Michigan 49048, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00029629153114
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http://dx.doi.org/10.1097/MAJ.0b013e31822978fcDOI Listing
November 2011

Valproate-induced worsening of seizures: clue to underlying diagnosis.

J Child Neurol 2011 Oct 31;26(10):1319-21. Epub 2011 Mar 31.

Department of Pediatric Neurology, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1177/0883073811402204DOI Listing
October 2011

Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy.

Pediatr Neurol 2011 Jul;45(1):60-2

Department of Pediatric Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.02.002DOI Listing
July 2011

A 2-day-old baby girl with encephalopathy and burst suppression on EEG. Nonketotic hyperglycinemia.

Neurology 2011 Jul;77(3):e16-9

Department of Pediatric Neurology, Mayo Building, 16th Floor, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1212/WNL.0b013e318225aae3DOI Listing
July 2011

Clinical reasoning: a 10-month-old boy with myoclonic status epilepticus.

Neurology 2011 Feb;76(5):e22-5

Department of Pediatric Neurology, Mayo Building, 16th floor, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1212/WNL.0b013e31820a0d39DOI Listing
February 2011

Symbiotic bacteria induced necrotizing pancreatitis.

JOP 2010 Sep 6;11(5):474-6. Epub 2010 Sep 6.

Department of Internal Medicine, Michigan State University/KCMS, Kalamazoo, MI, USA.

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September 2010

Moxifloxacin induced fatal hepatotoxicity in a 72-year-old man: a case report.

Cases J 2009 Jul 20;2:8063. Epub 2009 Jul 20.

Department of Internal Medicine, Michigan State University/KCMS 1000 Oakland Dr, Kalamazoo, Michigan 49008 USA.

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http://link.springer.com/content/pdf/10.4076/1757-1626-2-806
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http://www.casesjournal.com/content/2/1/8063
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http://dx.doi.org/10.4076/1757-1626-2-8063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740221PMC
July 2009

Disseminated Mycobacterium avium-intracellulare infection presenting as multiple ring-enhancing lesions on brain MRI.

Mayo Clin Proc 2009 May;84(5):394

Department of Internal Medicine, Michigan State University/Kalamazoo Center for Medical Studies, Kalamazoo, MI, USA.

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http://dx.doi.org/10.4065/84.5.394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2676119PMC
May 2009

Serologic profiles aiding the diagnosis of autoimmune gastrointestinal dysmotility.

Clin Gastroenterol Hepatol 2008 Sep 2;6(9):988-92. Epub 2008 Jul 2.

Department of Immunology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1016/j.cgh.2008.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2741093PMC
September 2008

Diabetic ketoacidosis induced by aripiprazole in a 12-year-old boy.

Diabetes Care 2008 Jun;31(6):e50

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http://dx.doi.org/10.2337/dc08-0441DOI Listing
June 2008

Salmeterol vs. formoterol: a comparison of rapid bronchodilator effect in a randomized controlled trial.

Indian Pediatr 2008 Mar;45(3):225-8

Pediatric Pulmonology Division, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

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March 2008

QT prolongation with methadone.

Indian J Crit Care Med 2008 Jan;12(1):46-7

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http://dx.doi.org/10.4103/0972-5229.40954DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2760917PMC
January 2008