Artículos por temáticas

Laquinimod Treatment Improves Myelination Deficits at the Transcriptional and Ultrastructural Levels in the YAC128 Mouse Model of Huntington Disease.

Garcia-Miralles M, Yusof NABM, Tan JY, Radulescu CI, Sidik H, Tan LJ, Belinson H, Zach N, Hayden MR, Pouladi MA.

Mol Neurobiol. 2019 Jun;56(6):4464-4478. doi: 10.1007/s12035-018-1393-1. Epub 2018 Oct 17.

Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience.

Peluzzo TM, Bonadia LC, Donatti A, Molck MC, Jardim LB, Marques W Jr, Lopes-Cendes IT, França MC Jr.

Cerebellum. 2019 Jun 26. doi: 10.1007/s12311-019-01055-z. [Epub ahead of print]

Ataxic phenotype with altered Ca(V)3.1 channel property in a mouse model for spinocerebellar ataxia 42.

Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M,

Neurobiol Dis. 2019 Jun 20:104516. doi: 10.1016/j.nbd.2019.104516. [Epub ahead of print]

Spinocerebellar Ataxia Type 2 - Neuronopathy or Neuropathy?

Pelosi L, Iodice R, Antenora A, Kilfoyle D, Mulroy E, Rodrigues M, Roxburgh R, Iovino A, Filla A, Manganelli F, Santoro L.

Muscle Nerve. 2019 Jun 22. doi: 10.1002/mus.26613. [Epub ahead of print]

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.

Zimmern V, Riant F, Roze E, Ranza E, Lehmann-Horn F, Bellescize J, Ville D, Lesca G, Korff CM.

Neuropediatrics. 2019 Jun 21. doi: 10.1055/s-0039-1688410. [Epub ahead of print]

Long Term Follow up of Cerebellar Ataxia CA) and MRI Lesions Which Responded to Copper (Cu) Supplementation (P12-055-19).

Rothkopf M, Venkatraman G.

Curr Dev Nutr. 2019 Jun 13;3(Suppl 1). pii: nzz035.P12-055-19. doi: 10.1093/cdn/nzz035.P12-055-19. eCollection 2019 Jun.

Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey.

Sayan S, Kotan D, Gündoğdu-Eken A, Şahbaz I, Koçoğlu C, Başak AN.

Noro Psikiyatr Ars. 2018 Jul 11;56(2):106-109. doi: 10.5152/npa.2017.20525. eCollection 2019 Jun.

Sensory ataxia rating scale (SEARS): development and validation of a functional scale for patients with sensory neuronopathies.

Martinez ARM, Martins MP, Martins CR Jr, Faber I, de Rezende TJR, Nucci A, França MC Jr.

J Peripher Nerv Syst. 2019 Jun 20. doi: 10.1111/jns.12330. [Epub ahead of print]

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.

Diallo A, Jacobi H, Cook A, Giunti P, Parkinson MH, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Castaldo A, Rakowicz M, Rola R, Sulek A, Schmitz-Hübsch T, Schöls

Mov Disord. 2019 Jun 18. doi: 10.1002/mds.27739. [Epub ahead of print]

Open label Pilot Study of Oral Methylprednisolone for the Treatment of Patients with Friedreich Ataxia.

Patel M, Schadt K, McCormick A, Isaacs C, Dong YN, Lynch DR.

Muscle Nerve. 2019 Jun 17. doi: 10.1002/mus.26610. [Epub ahead of print]

Development of an Immunohistochemical Assay to Detect the Ataxia-Telangiectasia Mutated (ATM) Protein in Gastric Carcinoma

Miller RM, Nworu C, McKee L, Balcerzak D, Pham L, Pugh J, Liu YZ, Gustafson H, Marwah E, Lamb T, Clements J.

Appl Immunohistochem Mol Morphol. 2020 Apr;28(4):303-310. doi: 10.1097/PAI.0000000000000786.

Restoring brain cholesterol turnover improves autophagy and has therapeutic potential in mouse models of spinocerebellar ataxia.

Nóbrega C, Mendonça L, Marcelo A, Lamazière A, Tomé S, Despres G, Matos CA, Mechmet F, Langui D, den Dunnen W, de Almeida LP, Cartier N, Alves S.

Acta Neuropathol. 2019 Jun 14. doi: 10.1007/s00401-019-02019-7. [Epub ahead of print]

Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia.

Marty B, Naeije G, Bourguignon M, Wens V, Jousmäki V, Lynch DR, Gaetz W, Goldman S, Hari R, Pandolfo M, De Tiège X.

Neurology. 2019 Jun 13. pii: 10.1212/WNL.0000000000007750. doi: 10.1212/WNL.0000000000007750. [Epub ahead of print]

Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12.

Rossi J, Cavallieri F, Giovannini G, Budriesi C, Gessani A, Carecchio M, Di Bella D, Sarto E, Mandrioli J, Contardi S, Meletti S.

Neurogenetics. 2019 Jun 13. doi: 10.1007/s10048-019-00580-7. [Epub ahead of print]

Spinocerebellar ataxia with axonal neuropathy type 1 revisited.

Scott P, Al Kindi A, Al Fahdi A, Al Yarubi N, Bruwer Z, Al Adawi S, Nandhagopal R.

J Clin Neurosci. 2019 Jun 7. pii: S0967-5868(19)30238-3. doi: 10.1016/j.jocn.2019.05.060. [Epub ahead of print]