Ocular Deformations in Spaceflight-Associated Neuro-Ocular Syndrome and Idiopathic Intracranial Hypertension

por Sibony, Patrick A., Laurie, Steven S., Ferguson, Connor R., Pardon, Laura P., Young, Millennia, Rohlf, F. James, Macias, Brandon R.
Publicado 2023

Author Response: The Posterior Displacement of the Bruch's Membrane Opening: A Surprising Finding in Spaceflight-Associated Neuro-Ocular Syndrome

por Sibony, Patrick A., Laurie, Steven S., Ferguson, Connor R., Pardon, Laura P., Young, Millennia, Rohlf, F. James, Macias, Brandon R.
Publicado 2023

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females

por Maini, Ilenia, Caraffi, Stefano G., Peluso, Francesca, Valeri, Lara, Nicoli, Davide, Laurie, Steven, Baldo, Chiara, Zuffardi, Orsetta, Garavelli, Livia
Publicado 2021

Venous and Arterial Responses to Partial Gravity

por Lee, Stuart M. C., Martin, David S., Miller, Christopher A., Scott, Jessica M., Laurie, Steven S., Macias, Brandon R., Mercaldo, Nathaniel D., Ploutz-Snyder, Lori, Stenger, Michael B.
Publicado 2020

Effects of short‐term mild hypercapnia during head‐down tilt on intracranial pressure and ocular structures in healthy human subjects

por Laurie, Steven S., Vizzeri, Gianmarco, Taibbi, Giovanni, Ferguson, Connor R., Hu, Xiao, Lee, Stuart M. C., Ploutz‐Snyder, Robert, Smith, Scott M., Zwart, Sara R., Stenger, Michael B.
Publicado 2017

Optic disc edema and chorioretinal folds develop during strict 6° head‐down tilt bed rest with or without artificial gravity

por Laurie, Steven S., Greenwald, Scott H., Marshall‐Goebel, Karina, Pardon, Laura P., Gupta, Akash, Lee, Stuart M. C., Stern, Claudia, Sangi‐Haghpeykar, Haleh, Macias, Brandon R., Bershad, Eric M.
Publicado 2021

MRI-based quantification of posterior ocular globe flattening during 60 days of strict 6° head-down tilt bed rest with and without daily centrifugation

por Sater, Stuart H., Conley Natividad, Gabryel, Seiner, Akari J., Fu, Audrey Q., Shrestha, Dev, Bershad, Eric M., Marshall-Goebel, Karina, Laurie, Steven S., Macias, Brandon R., Martin, Bryn A.
Publicado 2022

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

por Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, *Aysenur, Horvath, Rita, Oktay, Yavuz
Publicado 2020

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

por Matalonga, Leslie, Laurie, Steven, Papakonstantinou, Anastasios, Piscia, Davide, Mereu, Elisabetta, Bullich, Gemma, Thompson, Rachel, Horvath, Rita, Pérez-Jurado, Luis, Riess, Olaf, Gut, Ivo, van Ommen, Gert-Jan, Lochmüller, Hanns, Beltran, Sergi
Publicado 2020

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

por Töpf, Ana, Oktay, Yavuz, Balaraju, Sunitha, Yilmaz, Elmasnur, Sonmezler, Ece, Yis, Uluc, Laurie, Steven, Thompson, Rachel, Roos, Andreas, MacArthur, Daniel G., Yaramis, Ahmet, Güngör, Serdal, Lochmüller, Hanns, Hiz, Semra, Horvath, Rita
Publicado 2019

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

por Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, van de Warrenburg, Bart, Schöls, Ludger, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis
Publicado 2021

Efficacy of Gradient Compression Garments in the Hours After Long-Duration Spaceflight

por Lee, Stuart M. C., Ribeiro, L. Christine, Laurie, Steven S., Feiveson, Alan H., Kitov, Vladimir V., Kofman, Igor S., Macias, Brandon R., Rosenberg, Marissa, Rukavishnikov, Ilya V., Tomilovskaya, Elena S., Bloomberg, Jacob J., Kozlovskaya, Inessa B., Reschke, Millard F., Stenger, Michael B.
Publicado 2020

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

por Oktay, Yavuz, Güngör, Serdal, Zeltner, Lena, Wiethoff, Sarah, Schöls, Ludger, Sonmezler, Ece, Yilmaz, Elmasnur, Munro, Benjamin, Bender, Benjamin, Kernstock, Christoph, Kaemereit, Sofie, Liepelt, Inga, Töpf, Ana, Yis, Uluc, Laurie, Steven, Yaramis, Ahmet, Zuchner, Stephan, Hiz, Semra, Lochmüller, Hanns, Schüle, Rebecca, Horvath, Rita
Publicado 2020

Assessment of Jugular Venous Blood Flow Stasis and Thrombosis During Spaceflight

por Marshall-Goebel, Karina, Laurie, Steven S., Alferova, Irina V., Arbeille, Philippe, Auñón-Chancellor, Serena M., Ebert, Douglas J., Lee, Stuart M. C., Macias, Brandon R., Martin, David S., Pattarini, James M., Ploutz-Snyder, Robert, Ribeiro, L. Christine, Tarver, William J., Dulchavsky, Scott A., Hargens, Alan R., Stenger, Michael B.
Publicado 2019

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

por Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A., Deshpande, Charu, Taylor, Robert W., Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Nalini, Atchayaram, Lochmüller, Hanns
Publicado 2019

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

por Matalonga, Leslie, Hernández-Ferrer, Carles, Piscia, Davide, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, Vissers, Lisenka E. L. M., de Voer, Richarda, Tonda, Raul, Laurie, Steven, Fernandez-Callejo, Marcos, Picó, Daniel, Garcia-Linares, Carles, Papakonstantinou, Anastasios, Corvó, Alberto, Joshi, Ricky, Diez, Hector, Gut, Ivo, Hoischen, Alexander, Graessner, Holm, Beltran, Sergi
Publicado 2021

Physiological and Functional Alterations after Spaceflight and Bed Rest

por MULAVARA, AJITKUMAR P., PETERS, BRIAN T., MILLER, CHRIS A., KOFMAN, IGOR S., RESCHKE, MILLARD F., TAYLOR, LAURA C., LAWRENCE, EMILY L., WOOD, SCOTT J., LAURIE, STEVEN S., LEE, STUART M. C., BUXTON, ROXANNE E., MAY-PHILLIPS, TIFFANY R., STENGER, MICHAEL B., PLOUTZ-SNYDER, LORI L., RYDER, JEFFREY W., FEIVESON, ALAN H., BLOOMBERG, JACOB J.
Publicado 2018

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

por Gungor, Serdal, Oktay, Yavuz, Hiz, Semra, Aranguren-Ibáñez, Álvaro, Kalafatcilar, Ipek, Yaramis, Ahmet, Karaca, Ezgi, Yis, Uluc, Sonmezler, Ece, Ekinci, Burcu, Aslan, Mahmut, Yilmaz, Elmasnur, Özgör, Bilge, Balaraju, Sunitha, Szabo, Nora, Laurie, Steven, Beltran, Sergi, MacArthur, Daniel G., Hathazi, Denisa, Töpf, Ana, Roos, Andreas, Lochmuller, Hanns, Vernos, Isabelle, Horvath, Rita
Publicado 2020

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

por Corvò, Alberto, Matalonga, Leslie, Spalding, Dylan, Senf, Alexander, Laurie, Steven, Picó-Amador, Daniel, Fernandez-Callejo, Marcos, Paramonov, Ida, Romero, Anna Foix, Garcia-Rios, Emilio, Ciges, Jorge Izquierdo, Mohan, Anand, Thomas, Coline, Silva Valencia, Andres Felipe, Halmagyi, Csaba, Freeberg, Mallory Ann, Töpf, Ana, Horvath, Rita, Saunders, Gary, Gut, Ivo, Keane, Thomas, Piscia, Davide, Beltran, Sergi
Publicado 2023

AltitudeOmics: The Integrative Physiology of Human Acclimatization to Hypobaric Hypoxia and Its Retention upon Reascent

por Subudhi, Andrew W., Bourdillon, Nicolas, Bucher, Jenna, Davis, Christopher, Elliott, Jonathan E., Eutermoster, Morgan, Evero, Oghenero, Fan, Jui-Lin, Houten, Sonja Jameson-Van, Julian, Colleen G., Kark, Jonathan, Kark, Sherri, Kayser, Bengt, Kern, Julia P., Kim, See Eun, Lathan, Corinna, Laurie, Steven S., Lovering, Andrew T., Paterson, Ryan, Polaner, David M., Ryan, Benjamin J., Spira, James L., Tsao, Jack W., Wachsmuth, Nadine B., Roach, Robert C.
Publicado 2014