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Page 1
Nutritional Recovery Batwing Dystonia in Infantile Vitamin B12 Deficiency.
Kumar P, Nagarajan B, Vyas S, Bansal A, Verma S, Sankhyan N. Kumar P, et al. Mov Disord. 2022 Nov;37(11):2308-2310. doi: 10.1002/mds.29196. Epub 2022 Aug 17. Mov Disord. 2022. PMID: 35977076
When treated with injectable B12, the affected babies can develop a peculiar transient "batwing dystonia." This dystonia is possibly a nutritional recovery movement disorder due to basal ganglia dysfunction....
When treated with injectable B12, the affected babies can develop a peculiar transient "batwing dystonia." This dystonia
Involuntary movements due to vitamin B12 deficiency.
de Souza A, Moloi MW. de Souza A, et al. Neurol Res. 2014 Dec;36(12):1121-8. doi: 10.1179/1743132814Y.0000000396. Epub 2014 May 22. Neurol Res. 2014. PMID: 24852503 Review.
Deficiency of vitamin B12 produces protean effects on the nervous system, most commonly neuropathy, myelopathy, cognitive and behavioural symptoms, and optic atrophy. ...In this article, we elucidate the association of vitamin B12 deficiency with movem …
Deficiency of vitamin B12 produces protean effects on the nervous system, most commonly neuropathy, myelopathy, cognitive and …
Wilson disease and related copper disorders.
Lorincz MT. Lorincz MT. Handb Clin Neurol. 2018;147:279-292. doi: 10.1016/B978-0-444-63233-3.00018-X. Handb Clin Neurol. 2018. PMID: 29325617 Review.
Mutations in a second, closely related copper-transporting ATPase, ATP7A, cause a spectrum of copper deficiency disorders that include Menkes disease, occipital horn syndrome, and ATP7A-related distal motor neuropathy. Two important, nongenetic causes of copper deficiency …
Mutations in a second, closely related copper-transporting ATPase, ATP7A, cause a spectrum of copper deficiency disorders that includ …
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency.
Sacharow SJ, Picker JD, Levy HL. Sacharow SJ, et al. 2004 Jan 15 [updated 2017 May 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Jan 15 [updated 2017 May 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301697 Free Books & Documents. Review.
Other features that may occur include: seizures, psychiatric problems, extrapyramidal signs (e.g., dystonia), hypopigmentation of the skin and hair, malar flush, livedo reticularis, and pancreatitis. ...Prevention of primary manifestations: Individuals are treated to maint …
Other features that may occur include: seizures, psychiatric problems, extrapyramidal signs (e.g., dystonia), hypopigmentation of the …
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
Teive HAG, Camargo CHF, Pereira ER, Coutinho L, Munhoz RP. Teive HAG, et al. Neurogenetics. 2022 Jul;23(3):167-177. doi: 10.1007/s10048-022-00688-3. Epub 2022 Apr 9. Neurogenetics. 2022. PMID: 35397036 Review.
The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometabolic disorders that are potentially treatable. This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobala …
The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neu …
Serum vitamin B12 deficiency and hyperhomocystinemia: a reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia.
Shyambabu C, Sinha S, Taly AB, Vijayan J, Kovoor JM. Shyambabu C, et al. J Neurol Sci. 2008 Oct 15;273(1-2):152-4. doi: 10.1016/j.jns.2008.06.034. Epub 2008 Aug 3. J Neurol Sci. 2008. PMID: 18678379
Patients with vitamin B12 deficiency have protean neurological manifestations that are often insidious. ...There was no history of hypertension, diabetes or ischemic heart disease. He had low serum vitamin B12 and elevated serum homocystine levels. He …
Patients with vitamin B12 deficiency have protean neurological manifestations that are often insidious. ...There was no histor …
Homocysteine and serum markers of immune activation in primary dystonia.
Muller UJ, Frick B, Winkler C, Fuchs D, Wenning GK, Poewe W, Mueller J. Muller UJ, et al. Mov Disord. 2005 Dec;20(12):1663-7. doi: 10.1002/mds.20667. Mov Disord. 2005. PMID: 16108020
The cause of primary dystonia remains unknown. Several reports point to immune system disturbances in primary dystonia and a recent study demonstrated hyperhomocysteinemia in cervical dystonia. ...Total serum HCY, kynurenine, and tryptophan concentrations wer …
The cause of primary dystonia remains unknown. Several reports point to immune system disturbances in primary dystonia and a r …
Childhood movement disorders: Clinicoetiological pattern and long-term follow-up at tertiary care center from South India.
Parameshwarappa NN, Gowda VK, Shivappa SK. Parameshwarappa NN, et al. J Neurosci Rural Pract. 2023 Jan-Mar;14(1):21-27. doi: 10.25259/JNRP_17_2022. Epub 2022 Oct 22. J Neurosci Rural Pract. 2023. PMID: 36891113 Free PMC article.
The mean age at presentation was 3.15 years. The various movement disorders are dystonia-39(39%), choreoathetosis-29(29%), tremors-22(22%), gratification reaction-7(7%), and shuddering attacks-4(4%). ...Infantile tremor syndrome due to Vitamin B12 defi …
The mean age at presentation was 3.15 years. The various movement disorders are dystonia-39(39%), choreoathetosis-29(29%), tre …
20 results