Clinical Education Center

Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy

Authors: Spagnoli C, Soliani L, Caraffi SG, Baga M, Rizzi S, Salerno GG, Frattini D, Garavelli L, Koskenvuo J, Pisani F, Fusco C.
Parkinsonism Relat Disord. 2020 Jul;76:54-55. doi: 10.1016/j.parkreldis.2020.05.031. Epub 2020 Jun 1.

Specialties: Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Dementia assessment and management in primary care settings: a survey of current provider practices in the United States.

Authors: Bernstein A, Rogers KM, Possin KL, Steele NZR, Ritchie CS, Kramer JH, Geschwind M, Higgins JJ, Wohlgemuth J, Pesano R, Miller BL, Rankin KP
BMC Health Serv Res. 2019 Nov 29;19(1):919.

Specialties: Neurology

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High-Throughput Mass Spectrometry Assay for Quantifying β-Amyloid 40 and 42 in Cerebrospinal Fluid.

Authors: Weber DM, Tran D, Goldman SM, Taylor SW, Ginns EI, Lagier RJ, Rissman RA, Brewer JB, Clarke NJ
Clin Chem. 2019 Oct 18. doi: 10.1373/clinchem.2018.300947. [Epub ahead of print]

Specialties: Neurology

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Therapeutic plasma exchange for neuromyelitis optica spectrum disorder: A multicenter retrospective study by the ASFA neurologic diseases subcommittee.

Authors: Ipe TS, Raval JS, Fernando LP, Gokhale A, Jacquot C, Johnson AD, Kim HC, Monis GF, Mo YD, Morgan SM, Pagano MB, Pham HP, Sanford K, Schmidt AE, Schwartz J, Waldman A, Webb J, Winters JL, Wu Y, Yamada C, Wong ECC.
J Clin Apher. 2019 Nov 9. doi: 10.1002/jca.21754. [Epub ahead of print]

Specialties: Neurology

Laboratory validation of a clinical metagenomic sequencing assay for pathogen detection in cerebrospinal fluid.

Authors: Miller S, Naccache SN, Samayoa E, Messacar K, Arevalo S, Federman S, Stryke D, Pham E, Fung B, Bolosky WJ, Ingebrigtsen D, Lorizio W, Paff SM, Leake JA, Pesano R, DeBiasi R, Dominguez S, Chiu CY
Genomer Res. 2019 May;29:831-842. [Epub 2019 Apr 16.]

Specialties: Genetics, Neurology

Donnai-Barrow Syndrome.

Authors: Longoni M, Kantarci S, Donnai D, Pober BR.
GeneReviews® [Internet] [updated 2018 Nov 21] Initial Posting: August 28, 2008

Specialties: Genetics, Neurology

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.

Authors: Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC.
Hum Mutat. 2018 Nov;39(11):1476-1484.

Specialties: Genetics, Neurology

Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn Screen.

Authors: Regelmann MO, Kamboj MK, Miller BS, Nakamoto JM, Sarafoglou K, Shah S, Stanley TL, Marino R
J Clin Endocrinol Metab. 2018 Nov 1;103(11):4324-4331.

Specialties: Endocrinology, Diabetes & Metabolism, Neurology, Pediatrics

Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts

Authors: Rabinowitz NZ, Yokoyama JS, Bright AR, Lee SE, Fong JC, Karydas A, Bonham LW, Karbassi ID, Pribadi M, Meservey MA, Gallen M, Ramos EM, Liaquat K, Hoffman C, Krasner M, Dodge W, Rosen HJ, Boxer AL, Geschwind MD, Rankin KP, Coppola G, Miller BL, Higgins JJ
Adv Genomics Genet. 2018 Oct 25 vol 8:23–33

Specialties: Genetics, Geriatrics/Age Management, Neurology

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The role of the laboratory in the expanding field of neuroimmunology: Autoantibodies to neural targets.

Authors: Naides SJ.
J Immunol Methods. 2018 Oct 6 [Epub ahead of print]

Specialties: Neurology