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Quoted phrase not found in phrase index: "Disorder of manganese transport"
Page 1
Wilson disease.
Aggarwal A, Bhatt M. Aggarwal A, et al. Curr Opin Neurol. 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. Curr Opin Neurol. 2020. PMID: 32657896 Review.
PURPOSE OF REVIEW: The aim of this article is to review recent developments in the areas of the disease features and treatment of Wilson disease, and survey disorders that share its pathophysiology or clinical symptoms. ...A disease phenotype with domi …
PURPOSE OF REVIEW: The aim of this article is to review recent developments in the areas of the disease features and treatment of Wil …
Genetic Disorders of Manganese Metabolism.
Anagianni S, Tuschl K. Anagianni S, et al. Curr Neurol Neurosci Rep. 2019 May 14;19(6):33. doi: 10.1007/s11910-019-0942-y. Curr Neurol Neurosci Rep. 2019. PMID: 31089831 Free PMC article. Review.
Bi-allelic mutations in any of these transporter proteins disrupt the manganese equilibrium and lead to neurological disease: Hypermanganesaemia with dystonia 1 (SLC30A10 deficiency) and hypermanganesaemia with dystonia 2 (SLC39A14 deficiency) are char …
Bi-allelic mutations in any of these transporter proteins disrupt the manganese equilibrium and lead to neurological …
Disorders of heavy metals.
Woimant F, Trocello JM. Woimant F, et al. Handb Clin Neurol. 2014;120:851-64. doi: 10.1016/B978-0-7020-4087-0.00057-7. Handb Clin Neurol. 2014. PMID: 24365357 Review.
Heavy metals and trace elements play an important role in relation to the physiology and pathology of the nervous system. Neurologic diseases related to disorders of metabolism of copper and iron are reviewed. Copper disorders are divided into two classes: ATP7A- or …
Heavy metals and trace elements play an important role in relation to the physiology and pathology of the nervous system. Neurologic disease …
Parkinsonism in diseases predominantly presenting with dystonia.
Di Fonzo A, Franco G, Barone P, Erro R. Di Fonzo A, et al. Int Rev Neurobiol. 2019;149:307-326. doi: 10.1016/bs.irn.2019.10.007. Epub 2019 Nov 21. Int Rev Neurobiol. 2019. PMID: 31779818 Review.
If the presence of dystonia is a well-recognized phenomenon in disorders predominantly presenting with parkinsonism, including sporadic Parkinson Disease, the term dystonia-parkinsonism usually refers to rare conditions, often genetic, in which the severity of dysto …
If the presence of dystonia is a well-recognized phenomenon in disorders predominantly presenting with parkinsonism, including sporad …
Manganese-induced turnover of TMEM165.
Potelle S, Dulary E, Climer L, Duvet S, Morelle W, Vicogne D, Lebredonchel E, Houdou M, Spriet C, Krzewinski-Recchi MA, Peanne R, Klein A, de Bettignies G, Morsomme P, Matthijs G, Marquardt T, Lupashin V, Foulquier F. Potelle S, et al. Biochem J. 2017 Apr 19;474(9):1481-1493. doi: 10.1042/BCJ20160910. Biochem J. 2017. PMID: 28270545 Free PMC article.
TMEM165 deficiencies lead to one of the congenital disorders of glycosylation (CDG), a group of inherited diseases where the glycosylation process is altered. ...Remarkably, while the variant R126H was sensitive upon manganese exposure, the variant E108G, recently i …
TMEM165 deficiencies lead to one of the congenital disorders of glycosylation (CDG), a group of inherited diseases where the glycosyl …
Applications of Manganese-Enhanced Magnetic Resonance Imaging in Ophthalmology and Visual Neuroscience.
Deng W, Faiq MA, Liu C, Adi V, Chan KC. Deng W, et al. Front Neural Circuits. 2019 May 14;13:35. doi: 10.3389/fncir.2019.00035. eCollection 2019. Front Neural Circuits. 2019. PMID: 31156399 Free PMC article. Review.
Understanding the mechanisms of vision in health and disease requires knowledge of the anatomy and physiology of the eye and the neural pathways relevant to visual perception. ...Depending on the routes of administration, accumulation of manganese ions in the eye an …
Understanding the mechanisms of vision in health and disease requires knowledge of the anatomy and physiology of the eye and the neur …
Molecular imaging of β-cells: diabetes and beyond.
Wei W, Ehlerding EB, Lan X, Luo QY, Cai W. Wei W, et al. Adv Drug Deliv Rev. 2019 Jan 15;139:16-31. doi: 10.1016/j.addr.2018.06.022. Epub 2018 Jul 3. Adv Drug Deliv Rev. 2019. PMID: 31378283 Free PMC article. Review.
Since diabetes is becoming a global epidemic, there is a great need to develop early beta-cell specific diagnostic techniques for this disorder. There are two types of diabetes (i.e., type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM)). ...
Since diabetes is becoming a global epidemic, there is a great need to develop early beta-cell specific diagnostic techniques for this di …
Systematic and state-of the science review of the role of environmental factors in Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig's Disease.
Newell ME, Adhikari S, Halden RU. Newell ME, et al. Sci Total Environ. 2022 Apr 15;817:152504. doi: 10.1016/j.scitotenv.2021.152504. Epub 2021 Dec 28. Sci Total Environ. 2022. PMID: 34971691 Review.
We evaluate environmental factors suspected to be associated with ALS for their potential linkage to disease causality and to model geographic distributions of susceptible populations and expected cases worldwide. ...Two orthogonal methods employed implicate BMAA, formalde …
We evaluate environmental factors suspected to be associated with ALS for their potential linkage to disease causality and to model g …
Neuroimaging in hepatic encephalopathy.
Stewart CA, Reivich M, Lucey MR, Gores GJ. Stewart CA, et al. Clin Gastroenterol Hepatol. 2005 Mar;3(3):197-207. doi: 10.1016/s1542-3565(04)00531-2. Clin Gastroenterol Hepatol. 2005. PMID: 15765437 Review.
Hepatic encephalopathy (HE) is a poorly defined, complex neuropsychological disorder that often accompanies portal hypertension. Although the mechanisms underlining HE and the characterization of HE are still under investigation, the information derived from functional neu …
Hepatic encephalopathy (HE) is a poorly defined, complex neuropsychological disorder that often accompanies portal hypertension. Alth …
Copper, Iron, and Manganese Toxicity in Neuropsychiatric Conditions.
Tarnacka B, Jopowicz A, Maślińska M. Tarnacka B, et al. Int J Mol Sci. 2021 Jul 22;22(15):7820. doi: 10.3390/ijms22157820. Int J Mol Sci. 2021. PMID: 34360586 Free PMC article. Review.
In the present review, the authors focus on neurological disorders with psychiatric signs associated with copper, iron, and manganese excess and the diagnosis and potential treatment of such disorders. In our review, we described diseases related to these met …
In the present review, the authors focus on neurological disorders with psychiatric signs associated with copper, iron, and mangan …
98 results