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Bibliografía Científica

Artículos por temáticas

En este apartado encontrará la selección de artículos sobre Trastornos del Movimiento clasificados según los 11 tipos establecidos por International Parkinson & Movement Disorder Society.

Ataxia

7060 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

Teaching Video NeuroImage: New STUB1 Variant Causes Chorea, Tremor, Dystonia, Myoclonus, Ataxia, Depression, Cognitive Impairment, Epilepsy, and Superficial Siderosis

Saft C, Skodda S, Nguyen HP, Park J, Haack TB.

Neurology. 2021 Oct 26;97(17):e1749-e1750. doi: 10.1212/WNL.0000000000012264. Epub 2021 May 26.

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Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family

Wang Z, Lin Z, Wang H.

Indian J Dermatol Venereol Leprol. 2021 Oct 15:1-3. doi: 10.25259/IJDVL_488_20. Online ahead of print.

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Radiosensitizing the Vasculature of Primary Brainstem Gliomas Fails to Improve Tumor Response to Radiotherapy

Deland K, Mercer JS, Crabtree DM, Garcia MEG, Reinsvold M, Campos LDS, Williams NT, Luo L, Ma Y, Reitman ZJ, Becher OJ, Kirsch DG.

Int J Radiat Oncol Biol Phys. 2021 Oct 4:S0360-3016(21)02865-0. doi: 10.1016/j.ijrobp.2021.09.047. Online ahead of print.

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Upstream open reading frame with NOTCH2NLC GGC expansion generates polyglycine aggregates and disrupts nucleocytoplasmic transport: implications for polyglycine diseases

Zhong S, Lian Y, Luo W, Luo R, Wu X, Ji J, Ji Y, Ding J, Wang X.

Acta Neuropathol. 2021 Oct 25. doi: 10.1007/s00401-021-02375-3. Online ahead of print.

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An alpha II spectrin mutant peptide with unstable scaffold structure and increased sensitivity to calpain cleavage

Skrzymowska J, Zalas M, Goszczyński TM, Miazek A.

Biochem Biophys Res Commun. 2021 Oct 8;581:68-73. doi: 10.1016/j.bbrc.2021.10.021. Online ahead of print.

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Miller Fisher Syndrome in Patients With Severe Acute Respiratory Syndrome Coronavirus 2 Infection: A Systematic Review

Martins-Filho PR, Pereira de Andrade AL, Pereira de Andrade AJ, Moura da Silva MD, de Souza Araújo AA, Nunes PS, Santos VS, Ferreira LC, de Aquino Neves EL, Quintans-Júnior LJ.

J Clin Neurol. 2021 Oct;17(4):541-545. doi: 10.3988/jcn.2021.17.4.541.

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Brain hypometabolic changes in 14 adolescent-adult patients with Niemann-Pick disease type C assessed by 18F-fluorodeoxyglucose positron emission tomography

Lau TY, Kao YH, Toh HB, Sivaratnam D, Lichtenstein M, Velakoulis D, Walterfang M.

J Neurol. 2021 Oct;268(10):3878-3885. doi: 10.1007/s00415-021-10535-4. Epub 2021 Apr 8.

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A pleiotropic ATM variant (rs1800057 C>G) is associated with risk of multiple cancers

Qian D, Liu H, Zhao L, Luo S, Walsh KM, Huang J, Li CY, Wei Q.

Carcinogenesis. 2021 Oct 13:bgab092. doi: 10.1093/carcin/bgab092. Online ahead of print.

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Correction to: Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort

Bogdanova-Mihaylova P, Chen H, Plapp HM, Gorman C, Alexander MD, McHugh JC, Moran S, Early A, Cassidy L, Lynch T, Murphy SM, Walsh RA.

J Neurol. 2021 Oct;268(10):3908. doi: 10.1007/s00415-021-10593-8.

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Novel mutation in a patient with Charlevoix-Saguenay ataxia-a very rare disease with classical symptoms

Klimkowicz-Mrowiec A, Dziubek A, Sado M, Karpiński M.

Neurol Sci. 2021 Oct 24. doi: 10.1007/s10072-021-05687-0. Online ahead of print.

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[Central control malfunction in Wolfram syndrome: Report of one case of difficult weaning]

Gauvrit M, Jaffré S, Morin J, Hervé C, Alami H, Blanc FX.

Rev Mal Respir. 2021 Oct 23:S0761-8425(21)00370-3. doi: 10.1016/j.rmr.2021.09.007. Online ahead of print.

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Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse

Maletzko A, Key J, Wittig I, Gispert S, Koepf G, Canet-Pons J, Torres-Odio S, West AP, Auburger G.

Neurogenetics. 2021 Oct;22(4):297-312. doi: 10.1007/s10048-021-00657-2. Epub 2021 Aug 3.

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Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant

Kubota T, Nabatame S, Sato R, Hama M, Nishiike U, Mochizuki H, Takahashi MP, Takeshima T.

Brain Dev. 2021 Oct;43(9):952-957. doi: 10.1016/j.braindev.2021.05.011. Epub 2021 Jun 3.

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Genome instability independent of type I interferon signaling drives neuropathology caused by impaired ribonucleotide excision repair

Aditi, Downing SM, Schreiner PA, Kwak YD, Li Y, Shaw TI, Russell HR, McKinnon PJ.

Neuron. 2021 Oct 8:S0896-6273(21)00713-3. doi: 10.1016/j.neuron.2021.09.040. Online ahead of print.

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Flow cytometry allows rapid detection of protein aggregates in cellular and zebrafish models of spinocerebellar ataxia 3

Robinson KJ, Tym MC, Hogan A, Watchon M, Yuan KC, Plenderleith SK, Don EK, Laird AS.

Dis Model Mech. 2021 Oct 1;14(10):dmm049023. doi: 10.1242/dmm.049023. Epub 2021 Oct 11.

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