Results 151 to 160 of about 2,807 (196)

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers. [PDF]

Cerebellum
Pretegiani E, Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Kuzmiak M, Milovanovic A, Traschütz A, Tarnutzer AA.   +16 more
europepmc   +1 more source

Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). [PDF]

Int J Mol Sci
Kul E, Santos M, Stork O.
europepmc   +1 more source

Tyrosine Peptides Alleviates Multifaceted Toxicity Linked to Expanded CGG Repeats in Fragile X‑Associated Tremor/Ataxia Syndrome. [PDF]

ACS Pharmacol Transl Sci
Singh K, Shukla S, Ghosh T, Das AK, Kumar A.   +4 more
europepmc   +1 more source

Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons. [PDF]

J Neurodev Disord
Hourani SM, Utami KH, Oh SL, Castrén ML, Pouladi MA.   +4 more
europepmc   +1 more source

Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations. [PDF]

Int J Mol Sci
Roche-Martínez A, Ramírez-Mallafré A, Joga-Elvira L, Manso-Bazus C, Rubio-Roy M, Baena-Diez N.   +5 more
europepmc   +1 more source

Semantic and Syntactic Language Differences Associated with the <i>FMR1</i> Premutation Genotype. [PDF]

J Neurolinguistics
Friedman L, Matchin W, Berry-Kravis E, Klusek J.   +3 more
europepmc   +1 more source

Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier. [PDF]

Mol Genet Genomic Med
Loesch DZ, Chafota F, Bui MQ, Storey E, Atkinson A, Martin NG, Gordon SD, Rentería ME, Hagerman RJ, Tassone F.   +9 more
europepmc   +1 more source

The molecular basis of FXTAS

, 2008
openaire   +1 more source

Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS

Genes, Brain and Behavior, 2012
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene.
Flora Tassone, Claudia M Greco
exaly   +2 more sources

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The variable phenotype of FXTAS

Neurology, 2005
Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is caused by an expansion of a CGG trinucleotide repeat in the 5′ untranslated region of the fragile X mental retardation gene, the FMR1 gene, on the X chromosome to more than 200 repeats (full mutation).
Christoph Kamm, Thomas Gasser
openaire   +1 more source