Dhamija R - Search Results

1

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Marini C, et al. Among authors: dhamija r. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.

2

Diagnostic NGS for Severe Neuromuscular Disorders.

Dhamija R, Chambers C. Dhamija R, et al. Pediatr Neurol Briefs. 2015 Nov;29(11):82. doi: 10.15844/pedneurbriefs-29-11-1. Pediatr Neurol Briefs. 2015. PMID: 26933539 Free PMC article.

3

Clinical and Molecular Characterization of ALG1-CDG.

Dhamija R, Chambers C. Dhamija R, et al. Pediatr Neurol Briefs. 2016 Feb;30(2):14. doi: 10.15844/pedneurbriefs-30-2-5. Pediatr Neurol Briefs. 2016. PMID: 27053910 Free PMC article.

4

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

Kumar M, Chambers C, Dhamija R. Kumar M, et al. Among authors: dhamija r. Pediatr Neurol. 2017 Jan;66:113-114. doi: 10.1016/j.pediatrneurol.2016.08.020. Epub 2016 Sep 9. Pediatr Neurol. 2017. PMID: 27697311 No abstract available.

5

Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus.

Barrett MJ, Williams ES, Chambers C, Dhamija R. Barrett MJ, et al. Among authors: dhamija r. Neurol Genet. 2017 Sep 25;3(5):193. doi: 10.1212/NXG.0000000000000193. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28971144 Free PMC article. No abstract available.

6

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

Dhamija R, Goodkin HP, Bailey R, Chambers C, Brenton JN. Dhamija R, et al. J Child Neurol. 2017 Dec;32(14):1123-1124. doi: 10.1177/0883073817736702. J Child Neurol. 2017. PMID: 29129156

7

Review of Commercially Available Epilepsy Genetic Panels.

Chambers C, Jansen LA, Dhamija R. Chambers C, et al. Among authors: dhamija r. J Genet Couns. 2016 Apr;25(2):213-7. doi: 10.1007/s10897-015-9906-9. Epub 2015 Nov 5. J Genet Couns. 2016. PMID: 26536886

8

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

Abu Libdeh A, Talman L, Chambers C, Dhamija R. Abu Libdeh A, et al. Among authors: dhamija r. Neurology. 2017 Mar 28;88(13):e116-e121. doi: 10.1212/WNL.0000000000003768. Neurology. 2017. PMID: 28348125 No abstract available.

9

Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN.

Williams ES, Barrett MJ, Dhamija R, Toran L, Chambers C, Mahadevan MS, Golden WL. Williams ES, et al. Among authors: dhamija r. Mol Genet Genomic Med. 2018 May;6(3):457-462. doi: 10.1002/mgg3.386. Epub 2018 Mar 25. Mol Genet Genomic Med. 2018. PMID: 29577677 Free PMC article.

10

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

Dhamija R, Breningstall G, Wong-Kisiel L, Dolan M, Hirsch B, Wirrell E. Dhamija R, et al. Pediatr Neurol. 2011 Jul;45(1):60-2. doi: 10.1016/j.pediatrneurol.2011.02.002. Pediatr Neurol. 2011. PMID: 21723464

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