Výsledky vyhľadávania - "Brainstem"

A clinical and genotype-phenotype analysis of MACF1 variants

Autori: Dekker, Jordy Schot, Rachel Aldinger, Kimberly A a ďalší

Prispievatelia: Dekker, Jordy Schot, Rachel Aldinger, Kimberly A a ďalší

Zdroj: The American Journal of Human Genetics. 112:2363-2380

Predmety: microtubules, MACF1, ACF7, axonal pathfinding, brainstem hypoplasia, lissencephaly

Prístupová URL adresa: https://hdl.handle.net/11588/1010575
https://resolver.sub.uni-goettingen.de/purl?gro-2/151824
https://hdl.handle.net/11588/1010575
https://doi.org/10.1016/j.ajhg.2025.08.010

Intraoperative Assessment of Cochlear Nerve Function During Cochlear Implantation Using the Auditory Nerve Test Stimulator

Autori: Hallin, Karin, MSc PhD Schart-Moren, Nadine

Zdroj: Audiology Research. 15(2)

Predmety: cochlear implant, electrical auditory brainstem responses, auditory nerve test stimulator, long-term deafness

Popis súboru: electronic

Prístupová URL adresa: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-555998
https://doi.org/10.3390/audiolres15020036

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

Prispievatelia: Adeline Vanderver, MD, Program Director, Leukodystrophy Center

Zdroj: LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Costello DJ, Eichler AF, Eichler FS. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009 Nov;15(6):319-28. doi: 10.1097/NRL.0b013e3181b287c8.
Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. The burden of inherited leukodystrophies in children. Neurology. 2010 Aug 24;75(8):718-25. doi: 10.1212/WNL.0b013e3181eee46b. Epub 2010 Jul 21.
Vanderver A, Hussey H, Schmidt JL, Pastor W, Hoffman HJ. Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders. Semin Pediatr Neurol. 2012 Dec;19(4):219-23. doi: 10.1016/j.spen.2012.10.001.
Richards J, Korgenski EK, Srivastava R, Bonkowsky JL. Costs of the diagnostic odyssey in children with inherited leukodystrophies. Neurology. 2015 Sep 29;85(13):1167-70. doi: 10.1212/WNL.0000000000001974. Epub 2015 Aug 28.
Richards J, Korgenski EK, Taft RJ, Vanderver A, Bonkowsky JL. Targeted leukodystrophy diagnosis based on charges and yields for testing. Am J Med Genet A. 2015 Nov;167A(11):2541-3. doi: 10.1002/ajmg.a.37215. Epub 2015 Jul 16.
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011 Sep 27;12(11):745-55. doi: 10.1038/nrg3031.
Srivastava S, Cohen JS, Vernon H, Baranano K, McClellan R, Jamal L, Naidu S, Fatemi A. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30.
Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL; Leukodystrophy Study Group; Schiffmann R, van der Knaap MS, Taft RJ. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016 Jun;79(6):1031-1037. doi: 10.1002/ana.24650. Epub 2016 May 9.
Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 2009 Feb 24;72(8):750-9. doi: 10.1212/01.wnl.0000343049.00540.c8.
Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ; LeukoSEQ Workgroup. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 Aug;88(2):264-273. doi: 10.1002/ana.25757. Epub 2020 Jun 9.

The Myelin Disorders Biorepository Project (MDBP)

Autori: National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) National Center for Advancing Translational Sciences (NCATS) a ďalší

Prispievatelia: National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) National Center for Advancing Translational Sciences (NCATS) a ďalší

Zdroj: The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gartner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20.

Endovascular treatment of a craniocervical junction dural arteriovenous fistula associated with lateral medullary syndrome: A case report

Autori: Masaaki Kubota Yosuke Tajima Yoshinori Higuchi

Zdroj: Radiol Case Rep
Radiology Case Reports, Vol 20, Iss 8, Pp 4112-4117 (2025)

Predmety: Medical physics. Medical radiology. Nuclear medicine, Brainstem infarction, R895-920, Lateral medullary syndrome, Endovascular treatment, Case Report, Craniocervical junction, Dural arteriovenous fistula

Prístupová URL adresa: https://doaj.org/article/f36b29fcebd244f89f9f3c5781c3c8ff

Bloomy rind sign in meningeal metastasis of lung adenocarcinoma: A case report

Autori: Sanae El hasnaoui Sahar Boulehoual Kaouthar Benyarou a ďalší

Zdroj: Radiol Case Rep
Radiology Case Reports, Vol 20, Iss 8, Pp 3639-3644 (2025)

Predmety: Lung adenocarcinoma, Medical physics. Medical radiology. Nuclear medicine, R895-920, Bloomy rind sign, Case Report, Brainstem, Meningeal metastasis

Prístupová URL adresa: https://doaj.org/article/0f5f4813386742febfda6642f6265241

Independent effects of sex and ear-canal size on auditory brainstem response amplitudes in young adults

Autori: Hannah Guest Christopher J. Plack Kevin J. Munro a ďalší

Zdroj: Guest, H, Plack, C, Munro, K, Couth, S & Prendergast, G 2025, 'Independent effects of sex and ear-canal size on auditory brainstem response amplitudes in young adults', International Journal of Audiology.

Predmety: Ear-canal volume, Sex differences, Ear-canal diameter, Auditory brainstem response, Auditory evoked potentials

Prístupová URL adresa: https://research.manchester.ac.uk/en/publications/acbe3601-5799-4c0b-b5fc-314dceea0a44

Nine Syndrome in Acute Pontine Ischemic Stroke: A Rare Case Report and Literature Review

Autori: Robert Shen Steffi Wulansari Linda Suryakusuma

Zdroj: Caspian Journal of Neurological Sciences, Vol 11, Iss 3, Pp 256-261 (2025)

Predmety: ophthalmoplegia, internuclear ophthalmoplegia, Neurosciences. Biological psychiatry. Neuropsychiatry, Neurology. Diseases of the nervous system, pontine stroke, brainstem stroke, RC346-429, one and a half syndrome, nine syndrome, RC321-571

Prístupová URL adresa: https://doaj.org/article/541ce2337329422581d66f7f27794baf

The periaqueductal gray in chronic low back pain: dysregulated neurotransmitters and function

Autori: Sirucek, Laura De Schoenmacker, Iara Gorrell, Lindsay Mary a ďalší

Prispievatelia: Sirucek, Laura De Schoenmacker, Iara Gorrell, Lindsay Mary a ďalší

Zdroj: Pain
Sirucek, L, De Schoenmacker, I, Gorrell, L M, Lütolf, R, Langenfeld, A, Baechler, M, Wirth, B, Hubli, M, Zölch, N & Schweinhardt, P 2025, 'The periaqueductal gray in chronic low back pain : dysregulated neurotransmitters and function', Pain, vol. 166, no. 7, pp. 1690-1705. https://doi.org/10.1097/j.pain.0000000000003617
Pain, 166 (7)

Predmety: Pressure pain threshold, Descending pain control system, 11558 Neuroscience Center Zurich, 340 Law, Descending pain modulation, 610 Medicine & health, Periaqueductal gray, Chronic pain, Keywords: Brainstem, 10218 Institute of Legal Medicine, neurotransmitters, GABA, Pain sensitivity, 10054 Clinic for Psychiatry, Psychotherapy, and Psychosomatics, Brainstem, Excitatory/inhibitory balance, Glutamate, Magnetic resonance spectroscopy, Chronic low back pain, 10046 Balgrist University Hospital, Swiss Spinal Cord Injury Center, Conditioned pain modulation, descending pain modulation, Research Paper

Popis súboru: application/pdf; application/application/pdf; Zoelch2025_periaqueductal_gray_in_chronic_low_back_pain.pdf - application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/40372313
http://hdl.handle.net/20.500.11850/741717
https://www.zora.uzh.ch/id/eprint/277879/
https://doi.org/10.5167/uzh-277879

Bilateral vestibulopathy in Alexander disease type II– a case report

Autori: Jan Bernhard Hofmann Matthias Gautschi Anja Vossenkaul a ďalší

Zdroj: European Archives of Oto-Rhino-Laryngology. 282:3807-3811

Predmety: Alexander disease, Vestibulo-ocular reflex, Brainstem atrophy, Bilateral vestibulopathy, 4-aminopyridine

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/40329038

Development of the concept of brain death: international data review

Autori: S. K. Sergienko

Zdroj: Вестник анестезиологии и реаниматологии, Vol 22, Iss 2, Pp 11-25 (2025)

Predmety: RC86-88.9, death by neurologic criteria, brain death, brainstem death, Medical emergencies. Critical care. Intensive care. First aid

Prístupová URL adresa: https://doaj.org/article/c90f91543a12460382a9e70e4955bd2b

Extended Technical and Clinical Validation of Deep Learning‐Based Brainstem Segmentation for Application in Neurodegenerative Diseases

Autori: Gesierich, Benno Sander, Laura Pirpamer, Lukas a ďalší

Zdroj: Human Brain Mapping. 46(3)

Predmety: Biomedical and Clinical Sciences, Clinical Sciences, Machine Learning and Artificial Intelligence, Bioengineering, Health Disparities and Racial or Ethnic Minority Health Research, Rare Diseases, Autoimmune Disease, Neurodegenerative, Clinical Research, Networking and Information Technology R&D (NITRD), Multiple Sclerosis, Brain Disorders, Neurosciences, Health Disparities, Minority Health, Biomedical Imaging, Neurological, Humans, Deep Learning, Brain Stem, Magnetic Resonance Imaging, Male, Female, Middle Aged, Reproducibility of Results, Neurodegenerative Diseases, Neuroimaging, Adult, Aged, Cerebral Small Vessel Diseases, Multiple System Atrophy, Image Interpretation, Computer-Assisted, atrophy, brainstem, deep learning, neurodegeneration, segmentation, MarkVCID Consortium, PROMESA Study Group, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology

Popis súboru: application/pdf

Prístupová URL adresa: https://escholarship.org/uc/item/7dv7h423
https://escholarship.org/content/qt7dv7h423/qt7dv7h423.pdf

Audiometric Outcomes of Auditory Brainstem Implantation during Vestibular Schwannoma Resection in NF2 Patients.

Autori: de Cos, Víctor Gibson, Madeline Li, Vivienne a ďalší

Zdroj: Journal of Neurological Surgery Part B: Skull Base. 86(1)

Predmety: NF2, audiometric outcomes, auditory brainstem implant, neurofibramatosis 2, vestibular schwannoma

Popis súboru: application/pdf

Prístupová URL adresa: https://escholarship.org/uc/item/8xp8234t
https://escholarship.org/content/qt8xp8234t/qt8xp8234t.pdf

A Systematic Review: State of the Science on Diagnostics of Hidden Hearing Loss

Autori: Shenoy, Sunil Bhatt, Khushi Yazdani, Yalda a ďalší

Zdroj: Diagnostics. 15(6)

Predmety: Biomedical and Clinical Sciences, Clinical Sciences, Hearing Loss, Clinical Research, Neurosciences, 4.2 Evaluation of markers and technologies, Ear, hidden hearing loss, synaptopathy, auditory brainstem response, middle ear muscle reflex, electrocochleography, frequency-following response, Clinical sciences

Popis súboru: application/pdf

Prístupová URL adresa: https://escholarship.org/uc/item/233847xg
https://escholarship.org/content/qt233847xg/qt233847xg.pdf

Sleep stage can be selectively modulated through targeted deep brain stimulation of brainstem circuits

Autori: Alceste Deli Benoit Duchet Shenghong He a ďalší

Zdroj: Brain Stimulation, Vol 18, Iss 6, Pp 1931-1934 (2025)

Predmety: Surgical neuromodulation, Sleep disorders, Arousal dysregulation, Brainstem nuclei, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

Popis súboru: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1935861X2500347X; https://doaj.org/toc/1935-861X

Prístupová URL adresa: https://doaj.org/article/129bbd93ffda498ead39e37e14e674b4

Power−efficient ramped stimulation in a fully implantable cochlear implant

Autori: Mert Doğan Ozlem Topcu Hasan Ulusan a ďalší

Zdroj: Scientific Reports, Vol 15, Iss 1, Pp 1-11 (2025)

Predmety: Cochlear implant, Ramped stimulation, Energy-efficient neurostimulation, Electrode-tissue interface, Auditory brainstem response (eABR), Medicine, Science

Popis súboru: electronic resource

Relation: https://doaj.org/toc/2045-2322

Prístupová URL adresa: https://doaj.org/article/fa3c37b9209a408e8dde33007576b6e9

Tau pathology in the brainstem monoaminergic neurons reflect resilience to Alzheimer’s disease pathology in the Nun study cases

Autori: Maryam Kherad Pezhouh Gang Chen Joyce Meints a ďalší

Zdroj: Acta Neuropathologica Communications, Vol 13, Iss 1, Pp 1-11 (2025)

Predmety: Cognitive reserve, Brain reserve, Locus coeruleus, Raphe, Brainstem, Alzheimer’s disease, Neurology. Diseases of the nervous system, RC346-429

Popis súboru: electronic resource

Relation: https://doaj.org/toc/2051-5960

Prístupová URL adresa: https://doaj.org/article/35861f2f402c46189ee61d7622eb4783

Sex-specific and age-related progression of auditory neurophysiological deficits in the Cln3 mouse model of Batten disease

Autori: Yanya Ding Jingyu Feng Viollandi Prifti a ďalší

Zdroj: Journal of Neurodevelopmental Disorders, Vol 17, Iss 1, Pp 1-20 (2025)

Predmety: EEG, Auditory evoked potential (AEP), Duration mismatch negativity (MMN), Auditory brainstem response (ABR), Translational biomarker, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

Popis súboru: electronic resource

Relation: https://doaj.org/toc/1866-1955

Prístupová URL adresa: https://doaj.org/article/78be4c88d190424981d746f2a0deca0e

Role of advanced MRI in diagnosing and evolutive follow-up to treatment in a case of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS)

Autori: Daniela Grasso, MD Carmela Borreggine, MD Gianluca Prencipe, MD

Zdroj: Radiology Case Reports, Vol 20, Iss 11, Pp 5458-5465 (2025)

Predmety: CLIPPERS, Brainstem, Inflammatory diseases, MR imaging, Perfusion weighted imaging, Susceptibility weighted imaging, Medical physics. Medical radiology. Nuclear medicine, R895-920

Popis súboru: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S193004332500682X; https://doaj.org/toc/1930-0433

Prístupová URL adresa: https://doaj.org/article/748e10bd7a7b4c1eacf2b481fb31973d

The auditory nerve implant—concept and device description of a novel electrical auditory prosthesis

Autori: Thomas Lenarz Florian Solzbacher Loren Rieth a ďalší

Zdroj: Bioelectronic Medicine, Vol 11, Iss 1, Pp 1-13 (2025)

Predmety: Neural prosthesis, Microelectrode array, Electrode-neural interface, Auditory nerve, Cochlear implant, Auditory brainstem implant, Medical technology, R855-855.5

Popis súboru: electronic resource

Relation: https://doaj.org/toc/2332-8886

Prístupová URL adresa: https://doaj.org/article/f55ca788684746a7910d09856dda2849