Artículos por temáticas

[Significance of whole exome sequencing in the diagnostics of rare neurological diseases - own experiences through a case presenting with ataxia].

Balicza P, Grosz Z, Bencsik R, Illés A, Gál A, Gézsi A, Molnár MJ.

Orv Hetil. 2018 Jul;159(28):1163-1169. doi: 10.1556/650.2018.31049. Hungarian.

Teaching Video NeuroImages: Upward gaze palsy is a sign of spinocerebellar ataxia type 3.

Nascimento FA, Marques Garcia BC, Teive HAG.

Neurology. 2018 Jul 31;91(5):e494. doi: 10.1212/WNL.0000000000005913. No abstract available.

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, Rodríguez de Rivera Garrido FJ, Schöls L, Giordano I, Bürk K, Pandolfo M, Schulz JB; EFACTS Study Group..

Neurology. 2018 Aug 10. pii: 10.1212/WNL.0000000000006121. doi: 10.1212/WNL.0000000000006121. [Epub ahead of print]

Use of optokinetic chart stimulation to restore mobility and reduce ataxia in a patient with pseudo-Cushing ataxia.

Chitambira B, McConaghy C.

BMJ Case Rep. 2018 Aug 23;2018. pii: bcr-2018-225346. doi: 10.1136/bcr-2018-225346.

Potential Benefits and Safety of T'ai Chi for Balance and Functional Independence in People with Cerebellar Ataxia.

Winser SJ, Kannan P, Pang M, Smith C, Tsang WW.

J Altern Complement Med. 2018 Jun 5. doi: 10.1089/acm.2017.0396. [Epub ahead of print] No abstract available.

Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil.

Fussiger H, Saraiva-Pereira ML, Leistner-Segal S, Jardim LB.

Cerebellum. 2018 Jun 25. doi: 10.1007/s12311-018-0958-x. [Epub ahead of print]

Far-infrared Radiation Improves Motor Dysfunction and Neuropathology in Spinocerebellar Ataxia Type 3 Mice.

Liu SW, Chang JC, Chuang SF, Liu KH, Cheng WL, Chang HJ, Chang HS, Lin TT, Hsieh CL, Lin WY, Hsieh M, Kuo SJ, Liu CS.

Cerebellum. 2018 May 3. doi: 10.1007/s12311-018-0936-3. [Epub ahead of print]

Dendritic potassium channel dysfunction may contribute to dendrite degeneration in spinocerebellar ataxia type 1.

Chopra R, Bushart DD, Shakkottai VG.

PLoS One. 2018 May 30;13(5):e0198040. doi: 10.1371/journal.pone.0198040. eCollection 2018.

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Parkinson MH, Bartmann AP, Clayton LMS, Nethisinghe S, Pfundt R, Chapple JP, Reilly MM, Manji H, Wood NJ, Bremner F, Giunti P.

Brain. 2018 Apr 1;141(4):989-999. doi: 10.1093/brain/awy028.

The Differential Diagnosis of Acute Onset Truncal Ataxia: The Importance of Dysgeusia in Miller Fisher Syndrome.

Ueno T, Kimura R, Kon T, Haga R, Nishijima H, Nunomura JI, Tomiyama M.

Intern Med. 2018 Feb 28. doi: 10.2169/internalmedicine.0313-17. [Epub ahead of print]

Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model of Friedreich's Ataxia.

Edenharter O, Schneuwly S, Navarro JA.

Front Mol Neurosci. 2018 Mar 6;11:38. doi: 10.3389/fnmol.2018.00038. eCollection 2018.

Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich's ataxia fibroblasts.

De Samber B, Meul E, Laforce B, De Paepe B, Smet J, De Bruyne M, De Rycke R, Bohic S, Cloetens P, Van Coster R, Vandenabeele P, Vanden Berghe T.

PLoS One. 2018 Jan 17;13(1):e0190495. doi: 10.1371/journal.pone.0190495. eCollection 2018.

Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8.

De Souza MT, Vera-Lozada G, Othman M, Marques-Salles TJ, Pinto LW, da Rocha MM, Rouxinol S, Liehr T, Ribeiro RC, Hassan R, Silva MLM.

Ann Lab Med. 2018 Jan;38(1):63-66. doi: 10.3343/alm.2018.38.1.63. No abstract available.

Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis.

Télot L, Rousseau E, Lesuisse E, Garcia C, Morlet B, Léger T, Camadro JM, Serre V.

Biochim Biophys Acta. 2018 Apr;1864(4 Pt A):997-1009. doi: 10.1016/j.bbadis.2018.01.010. Epub 2018 Jan 9.

Association Between Body Mass Index and Disease Severity in Chinese Spinocerebellar Ataxia Type 3 Patients.

Yang JS, Chen PP, Lin MT, Qian MZ, Lin HX, Chen XP, Shang XJ, Wang DN, Chen YC, Jiang B, Chen YJ, Wang N, Chen WJ, Gan SR.

Cerebellum. 2018 Feb 23. doi: 10.1007/s12311-018-0929-2. [Epub ahead of print]