Results 121 to 130 of about 4,503 (204)

T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in male <i>FMR1</i> premutation carriers. [PDF]

Front Mol Neurosci
Elias-Mas A, Paracuellos-Ayala I, Wang JY, Kim K, Tassone F, Schneider A, Hessl D, Rivera SM, Hagerman RJ.   +8 more
europepmc   +1 more source

FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution. [PDF]

Hum Mol Genet
Devore MC, Lam C, Xiao E, Devore J, McCain KRC, Wiley G, Park CC, Lynch DR, Bidichandani SI.   +8 more
europepmc   +1 more source

Glymphatic dysfunction and neuroinflammation in FXTAS: evidence from DTI-ALPS and gene expression analysis. [PDF]

Front Mol Neurosci
Elias-Mas A, Moreno EG, Martí CP, Rubio-Roy M, Aguado-Gracia J, Muñoz-Moreno E, Hinojosa A, Herrero I, Alvarez-Mora MI, Hagerman R, Wang JY, Zaro I, Ortiz SG, Krupinski J, Rodriguez-Revenga L.   +14 more
europepmc   +1 more source

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS. [PDF]

Cerebellum
Berglund S, Hashim F, Laffita-Mesa J, Malmgren H, Anderlid BM, Granberg T, Sjöström H, Svenningsson P, Paucar M.   +8 more
europepmc   +1 more source

Intergenerational associations in inhibitory control in <i>FMR1</i> families. [PDF]

Front Psychiatry
Hunt EE, Arnold HP, Cortez KB, Roberts JE.   +3 more
europepmc   +1 more source

Progression of fragile X-associated tremor/ataxia syndrome revealed by subtype and stage inference. [PDF]

Brain Commun
Morrison DE, Ponzini MD, Santos ER, Biag HMB, Espinal G, Tassone F, Rivera SM, Hessl D, Schneider A, Bourgeois JA, Hagerman R, Kim K.   +11 more
europepmc   +1 more source

Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Guha S, Rajan-Babu IS, Kesari A, Garg S, Rose NC, Seifert BA, Reddi HV, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net.   +7 more
europepmc   +1 more source

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis. [PDF]

Brain Commun
van Vugt JJFA, Zwamborn RAJ, Dolzhenko E, Eberle MA, Weisburd B, Bekema E, Kooyman M, Wang BN, Project MinE ALS Sequencing Consortium , Kamsteeg EJ, Losekoot M, Baas F, Novy C, Høyer H, van Eijk RPA, van Es MA, van Rheenen W, Al-Chalabi A, van den Berg LH, Veldink JH.   +19 more
europepmc   +1 more source

Isolated β-Human Chorionic Gonadotropin Elevation-From Pregnancy to Fragile X-associated Premature Ovarian Insufficiency. [PDF]

AACE Endocrinol Diabetes
Sharma PP.
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