Results 121 to 130 of about 5,489 (166)

Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing. [PDF]

Neurol Genet, 2021
Reyes CJ, Laabs BH, Schaake S, Lüth T, Ardicoglu R, Rakovic A, Grütz K, Alvarez-Fischer D, Jamora RD, Rosales RL, Weyers I, König IR, Brüggemann N, Klein C, Dobricic V, Westenberger A, Trinh J.   +16 more
europepmc   +1 more source

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing. [PDF]

Genes (Basel), 2022
Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J.   +17 more
europepmc   +1 more source

Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in X-Linked Dystonia Parkinsonism. [PDF]

eNeuro, 2022
D'Ignazio L, Jacomini RS, Qamar B, Benjamin KJM, Arora R, Sawada T, Evans TA, Diffenderfer KE, Pankonin AR, Hendriks WT, Hyde TM, Kleinman JE, Weinberger DR, Bragg DC, Paquola ACM, Erwin JA.   +15 more
europepmc   +1 more source

Mitochondrial toxins cause widespread downregulation of pathways in X-linked dystonia-parkinsonism patient-derived neurons. [PDF]

Stem Cell Reports
Grütz K, Künstner A, Krause C, Santinelli L, Franzenburg S, Ghelfi J, Grünewald A, Rosales RL, Brüggemann N, Busch H, Klein C, Seibler P.   +11 more
europepmc   +1 more source

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism. [PDF]

Am J Hum Genet
Mejia Maza A, Hincher M, Correia K, Gillis T, Nishiyama A, Penney EB, Domingo A, Yadav R, Murcar MG, Villafria Mercado PD, Han JS, Norenberg EP, Fernandez-Cerado C, Legarda GP, Sy M, Muñoz EL, Ang MC, Diesta CCE, Go C, Sharma N, Bragg DC, Talkowski ME, MacDonald ME, Lee JM, Ozelius LJ, Wheeler VC.   +25 more
europepmc   +1 more source

X-Linked Dystonia-Parkinsonism in a Manifesting Female: First Case Report of Deep Brain Stimulation. [PDF]

Mov Disord Clin Pract
Bautista AND, Rosales RL, Diesta CCE, Oropilla JQ, Westenberger A, Brüggemann N, Klein C.   +6 more
europepmc   +1 more source

Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism. [PDF]

J Neural Transm (Vienna), 2021
Fernandez-Cerado C, Legarda GP, Velasco-Andrada MS, Aguil A, Ganza-Bautista NG, Lagarde JBB, Soria J, Jamora RDG, Acuña PJ, Vanderburg C, Sapp E, DiFiglia M, Murcar MG, Campion L, Ozelius LJ, Alessi AK, Singh-Bains MK, Waldvogel HJ, Faull RLM, Macalintal-Canlas R, Muñoz EL, Penney EB, Ang MA, Diesta CCE, Bragg DC, Acuña-Sunshine G.   +25 more
europepmc   +1 more source

Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao. [PDF]

Mov Disord Clin Pract
Doquenia MLM, Dy Closas AMF, Algodon SM, Suarez-Uy R, Ng A, Laabs BH, Westenberger A, Brüggemann N, Rosales RL, Jamora RD, Klein C.   +10 more
europepmc   +1 more source

Clinical Outcomes with Prospective Brain Sensing Data Following Bilateral Globus Pallidus Deep Brain Stimulation in X-Linked Dystonia Parkinsonism. [PDF]

Mov Disord Clin Pract
Donlon E, O'Keeffe C, Horan J, Ruggieri F, Fitzpatrick J, O'Neill M, Alexander M, Fearon C, Moran C, Walsh RA.   +9 more
europepmc   +1 more source

Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia Parkinsonism. [PDF]

Mov Disord Clin Pract, 2020
Stephen CD, Go CL, Acuna P, Sharma N.
europepmc   +1 more source