Publications by Medical Specialty - Neurology
These publications were authored or co-authored by Quest Diagnostics staff.
- Adult Medicine
- Cardiology
- Clinical and Lab healthcare professionals
- COVID-19
- Dermatology
- Endocrinology, Diabetes & Metabolism
- Family Medicine
- Family medicine practitioners
- FQHC
- Gastroenterology
- General Health and Wellness
- Genetics
- Geriatrics/Age Management
- HCP
- Health Information Technology
- Hematology/Hemostasis/Thrombosis
- Infectious Disease
- Internal Medicine
- IVF
- Laboratory
- Lipidology
- Nephrology
- Neurology
- Nurse practitioners
- Oncology
- Other
- Pathology
- Pathology, Anatomic
- Pathology, Laboratory Medicine
- PCPs
- Pediatrics
- Physician assistants
- Prescription Drug Monitoring
- Primary Care
- Psychiatrists
- Pulmonology
- Rheumatology/Immunology/Allergy
- Sports Medicine
- Toxicology/Pain Management
- Transplant
- Urology
- Women's Health/OB/GYN
Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS
Authors: Mazzola L, Oliver KL, Labalme A, Baykan B, Muona M, Joensuu TH, Courage C, Chatron N, Borsani G, Alix E, Ramond F, Touraine R, Bahlo M, Bebek N, Berkovic SF, Lehesjoki AE, Lesca G.
Ann Neurol. 2020 Oct 21. doi: 10.1002/ana.25941. Online ahead of print.
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.
X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant
Authors: Kraatari M, Tuominen H, Tuupanen S, Haapaniemi T, Moilanen J, Rahikkala E.
Eur J Med Genet. 2020 Nov;63(11):104040. doi: 10.1016/j.ejmg.2020.104040. Epub 2020 Aug 14.
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.
Effects of 4% Ethanol Sclerosing Injection on Morton's Neuroma: A histological study
Authors: Patrick A DeHeer, Rickinder Bains, Faye-Rose Grebenyuk, Shrunjay Patel Tea Nguyen
J Am Podiatr Med Assoc. 2020 Jul 15. doi: 10.7547/17-094. Online ahead of print.
Specialties: Neurology
Disclaimer: One or more of the authors of this publication were employed at the time by AmeriPath, a subsidiary of Quest Diagnostics.
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
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
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.]
Donnai-Barrow Syndrome.
Authors: Longoni M, Kantarci S, Donnai D, Pober BR.
GeneReviews® [Internet] [updated 2018 Nov 21] Initial Posting: August 28, 2008
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.
