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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

1972 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

Differentiating episodic ataxia type 2 from migraine: a case report

Wu HJ, Lau WL, Chan TYC, Chen SPL, Ko CH.

Hong Kong Med J. 2020 Dec;26(6):526-527. doi: 10.12809/hkmj198306.

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Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood

Sahin T, Karaarslan FT, Yilmaz R, Tekgül Ş, Başak AN, Akbostanci MC.

Clin Neurol Neurosurg. 2020 Dec 8;201:106423. doi: 10.1016/j.clineuro.2020.106423. Online ahead of print.

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Acute immune sensory polyradiculopathy: a new variant of Guillain-Barré syndrome

Do Campo RV, Dyck PJB, Boon AJ, Tracy JA.

Muscle Nerve. 2020 Dec 21. doi: 10.1002/mus.27149. Online ahead of print.

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Effects of Fe(2+)/Fe(3+) Binding to Human Frataxin and Its D122Y Variant, as Revealed by Site-Directed Spin Labeling (SDSL) EPR Complemented by Fluorescence and Circular Dichroism Spectroscopies

Doni D, Passerini L, Audran G, Marque SRA, Schulz M, Santos J, Costantini P, Bortolus M, Carbonera D.

Int J Mol Sci. 2020 Dec 17;21(24):9619. doi: 10.3390/ijms21249619.

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ATM inhibition enhances cancer immunotherapy by promoting mtDNA leakage/cGAS-STING activation

Hu M, Zhou M, Bao X, Pan D, Jiao M, Liu X, Li F, Li CY.

J Clin Invest. 2020 Dec 8:139333. doi: 10.1172/JCI139333. Online ahead of print.

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Spinocerebellar Ataxia Type 6: A Disorder of Connectivity?

Teaford M.

J Neurosci. 2020 Dec 2;40(49):9344-9345. doi: 10.1523/JNEUROSCI.0822-20.2020.

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Investigating TBP CAG/CAA trinucleotide repeat expansions in a Taiwanese cohort with ALS

Jih KY, Lin KP, Tsai PC, Soong BW, Liao YC, Lee YC.

Amyotroph Lateral Scler Frontotemporal Degener. 2020 Dec 30:1-6. doi: 10.1080/21678421.2020.1867182. Online ahead of print.

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Common Variable Immunodeficiency Presenting as Anti-GAD Cerebellar Ataxia

Nguyen T, McCauley M, Zheng T, Rizvi SA.

R I Med J (2013). 2020 Dec 1;103(10):38-39.

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De Novo Variants in EEF2 Cause a Neurodevelopmental Disorder with Benign External Hydrocephalus

Nabais Sá MJ, Olson AN, Yoon G, Nimmo GAM, Gomez CM, Willemsen MA, Millan F, Schneider A, Pfundt R, de Brouwer APM, Dinman JD, de Vries BBA.

Hum Mol Genet. 2020 Dec 23:ddaa270. doi: 10.1093/hmg/ddaa270. Online ahead of print.

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Cluster analysis of impairment measures to inform an evidence-based classification structure in RaceRunning, a new World Para Athletics event for athletes with hypertonia, ataxia or athetosis

van der Linden ML, Corrigan O, Tennant N, Verheul MHG.

J Sports Sci. 2020 Dec 18:1-8. doi: 10.1080/02640414.2020.1860360. Online ahead of print.

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Diagnosis Clinical Criteria Of Sport Related Concussion: Toward An Operational Criteria Definition In France

Decq P, Brauge D, Calmat A, Cassoudesalle H, Dehail P, Deroche F, Frey A, Julia M, Van PL, Lecocq J, Mekies C, Monroche A, Pariente J, Rousseau R, Vesselle B, Einsargueix G.

Neurochirurgie. 2020 Dec 2:S0028-3770(20)30475-6. doi: 10.1016/j.neuchi.2020.11.010. Online ahead of print.

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Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function

Niss F, Zaidi W, Hallberg E, Ström AL.

Mol Cell Neurosci. 2020 Dec 16;110:103584. doi: 10.1016/j.mcn.2020.103584. Online ahead of print.

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West Nile Fever - Clinical and Epidemiological Characteristics. Review of the Literature and Contribution with Three Clinical Cases

Kotsev S, Christova I, Pishmisheva-Peleva M.

Folia Med (Plovdiv). 2020 Dec 31;62(4):843-850. doi: 10.3897/folmed.62.e51225.

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PUBMED

SIRT3, a metabolic target linked to ataxia-telangiectasia mutated (ATM) gene deficiency in diffuse large B-cell lymphoma

Bhalla K, Jaber S, Reagan K, Hamburg A, Underwood KF, Jhajharia A, Singh M, Bhandary B, Bhat S, Nanaji NM, Hisa R, McCracken C, Creasy HH, Lapidus RG, Kingsbury T, Mayer D, Polster B, Gartenhaus RB.

Sci Rep. 2020 Dec 3;10(1):21159. doi: 10.1038/s41598-020-78193-6.

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Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family

Morello G, Gentile G, Spataro R, Spampinato AG, Guarnaccia M, Salomone S, La Bella V, Conforti FL, Cavallaro S.

J Pers Med. 2020 Dec 2;10(4):262. doi: 10.3390/jpm10040262.

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