Suchergebnisse - Surampalli, Abhilasha

A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome von Kimonis, Virginia, Surampalli, Abhilasha, Wencel, Marie, Gold, June-Anne, Cowen, Neil M.

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Prader-Willi syndrome due to an unbalanced de novo translocation [t(15;19)(q12;p13.3)] von Dang, Vy, Surampalli, Abhilasha, Manzardo, Ann M, Youn, Stephanie, Butler, Merlin G, Gold, June-Anne, Kimonis, Virginia

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A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene von Plewa, Jake, Surampalli, Abhilasha, Wencel, Marie, Milad, Merit, Donkervoort, Sandra, Caiozzo, Vincent J., Goyal, Namita, Mozaffar, Tahseen, Kimonis, Virginia

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Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy von Al-Obeidi, Ebaa, Al-Tahan, Sejad, Surampalli, Abhilasha, Goyal, Namita, Wang, Annabel, Hermann, Andreas, Omizo, Molly, Smith, Charles, Mozaffar, Tahseen, Kimonis, Virginia

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Impact of genetic subtypes of Prader–Willi syndrome with growth hormone therapy on intelligence and body mass index von Butler, Merlin G., Matthews, Naomi A., Patel, Nidhi, Surampalli, Abhilasha, Gold, June-Anne, Khare, Manaswitha, Thompson, Travis, Cassidy, Suzanne B., Kimonis, Virginia E.

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A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation von Surampalli, Abhilasha, Gold, Brian T., Smith, Charles, Castellani, Rudy J., Khare, Manaswitha, Yu, Hon, Nguyen, Celeste, Lan, Mary, Wencel, Marie, Wigal, Sharon, Caiozzo, Vince, Kimonis, Virginia

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Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia von Surampalli, Abhilasha, Khare, Manaswitha, Kubrussi, Georgette, Wencel, Marie, Tanaja, Jasmin, Donkervoort, Sandra, Osann, Kathryn, Simon, Mariella, Wallace, Douglas, Smith, Charles, McInerney-Leo, Aideen, Kimonis, Virginia

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Early Diagnosis in Prader–Willi Syndrome Reduces Obesity and Associated Co-Morbidities von Kimonis, Virginia E., Tamura, Roy, Gold, June-Anne, Patel, Nidhi, Surampalli, Abhilasha, Manazir, Javeria, Miller, Jennifer L., Roof, Elizabeth, Dykens, Elisabeth, Butler, Merlin G., Driscoll, Daniel J.

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