Results 91 to 100 of about 92,711 (302)

Carrier testing for spinal muscular atrophy

, 2010
Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. There is as yet no effective treatment. Although a carrier test is available, currently there is disagreement among professional medical societies who proffer
Wang, Ching, Musci, Thomas, Howell, R. Rodney, Karla Gonye, Phyllis Frosst, Alan Fleischman, Watson, Michael, Thomas Prior, Lloyd-Puryear, Michele, Prior, Thomas, Valerie Cwik, Fischbeck, Kenneth, Alex MacKenzie, Keiles, Steven, Kenneth Hobby, Fleischman, Alan, Sharon F. Terry, Crawford, Thomas O, MacKenzie, Alex, Ching Wang, Terry, Sharon F, Gonye, Karla, Steven Keiles, Sugarman, Elaine A, Petra Kaufmann, Michael Watson, Yaron, Yuval, Urv, Tiina, Thomas Musci, Yuval Yaron, Frosst, Phyllis, Elaine A. Sugarman, Deborah Heine, Heine, Deborah, Thomas O. Crawford, Michele Lloyd-Puryear, Kaufmann, Petra, Jonathan M Gitlin, Tiina Urv, Hobby, Kenneth, Gitlin, Jonathan M, Cwik, Valerie, Kenneth Fischbeck, R. Rodney Howell   +43 more
core   +2 more sources

Proximal spinal muscular atrophy: current orthopedic perspective

, 2013
Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is ...
Fujak A, Haaker G
core  

Identifying epigenetic regulators of survival motor neuron protein to treat spinal muscular atrophy

, 2022
Spinal muscular atrophy (SMA) is a rare monogenic disease of mostly paediatric onset, affecting approximately 1:8,000 – 10,000 live births. If untreated, it leads to progressive muscle weakness and paralysis, due to degeneration of lower α-motor neurons ...
Kordala, Anna
core   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

Arthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, in collaboration with the Consensus Expert Panel (CEP) members, G. Alden Adkins, Brittany Adler, Hossein Ansari, Senada Arabelovic, Alan Baer, Denis Balaban, Shamik Bhattacharyya, Evelyn Bromet, Krishna Chaganti, Kamal Chemali, Melissa Cortez, Schartess Culpepper, Paul Dellaripa, Dana Direnzo, Daniel El Bogdadi, Robert Fearon, Mehrnez Fischbach, Judi Furlong, Christopher Gibbons, Rachael Gordon, Thomas Grader Beck, Syed Haider, Larry Hollenbeck, Chadwick R. Johr, Stuart S. Kassan, Brian King, Octavia Kincaid, Eugene Kissin, Vasileios Kyttaris, Lindsay Lally, Brandon M. Law, Janet Lewis, Scott M. Lieberman, Amanda Lusa, Joseph Lutt, Rashmi Maganti, Arthur M. Mandelin, Sara McCoy, Kerry Neall, Timothy Niewold, Anne Louise Oaklander, Ruben A. Peredo‐Wende, Lynn Petruzzi, Mark A. Porter, Guada Respicio Duque, Tania Reyna, Nathaniel M. Robbins, Elliot D. Rosenstein, Laura Rosow, Breanna Ruthrauff, Amit Sachdev, Nora Sandorfi, Sarah Schafer, Elena Schiopu, Chokkalingam Siva, Daniel Small, Sara M. Stern, Lauren Stiles, Susan Stoddard, Jinny Tavee, Donald Thomas, Edward L. Treadwell, Nagagopal Venna, Steven Vernino, Frederick B. Vivino, Brittany Weber, Sepideh Yadollahi, Huiying Yu, Scott Zashin   +88 more
wiley   +1 more source

The impact of neurological impairment and tone on hip joint development

Journal of Children's Orthopaedics
Purpose: The purpose of this study was to define how different force environments by neuromuscular diagnosis (hypertonic versus hypotonic) impact the growth and morphology of the proximal femoral and acetabular regions relative to typically developing ...
Sadettin Ciftci, Luiz Carlos Almeida da Silva, Jason J Howard, Michael Wade Shrader, Freeman Miller   +4 more
doaj   +1 more source

Rehabilitation in spinal muscular atrophy

The Journal of the International Society of Physical and Rehabilitation Medicine, 2019
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with symptoms of progressive skeletal muscular atrophy which requires multidisciplinary medical care.
Agus Iwan Foead, Wendy Wai Yeng Yeo, Thirupathirao Vishnumukkala, Michael Larvin   +3 more
doaj   +1 more source

Characteristics and Outcomes of Male Participants in a Multicenter Longitudinal Australian Study Cohort

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin, Dylan Hansen, Laura Ross, Gene‐Siew Ngian, Susanna Proudman, Gabor Major, Maryam Tabesh, Mandana Nikpour, Jennifer Walker, Lauren Host, Nava Ferdowsi, Alannah Quinlivan, Wendy Stevens, Joanne Sahhar, Diane Apostolopoulos   +14 more
wiley   +1 more source

Obesity Subtypes and Longitudinal Trajectories of Function Over Seven Years of Follow‐Up: Data From the Multicenter Osteoarthritis Study

Arthritis Care &Research, EarlyView.
Objective Obesity, defined by body mass index (BMI) ≥30 kg/m2, is a risk factor for functional limitations in people with knee osteoarthritis (OA). However, function varies among such individuals. Our objective was to evaluate the implications of obesity subtypes on longitudinal patterns of physical functioning in people with or at risk for knee OA ...
Kristine Godziuk, Sarah Tilley, Michael LaValley, Michael C. Nevitt, Cora E. Lewis, James C. Torner, Tuhina Neogi, for the Multicenter Osteoarthritis Study Group   +7 more
wiley   +1 more source

Casting Light on Mechanical Properties of Lower and Upper Extremity Muscles in Children with Spinal Muscular Atrophy and Healthy Peers

Archives of Health Science and Research
Objective: This study aimed to compare the mechanical properties of upper and lower extremities between children with spinal muscular atrophy types 1 and 2 and healthy peers.
Seval KUTLUTÜRK-YIKILMAZ, Tülay ÇEVİK-SALDIRAN, Özgül ÖZTÜRK, Sedat ÖKTEM   +3 more
doaj   +1 more source

Spinal Muscular Atrophy and Arthrogryposis

Pediatric Neurology Briefs, 1997
Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at ...
J Gordon Millichap
doaj   +1 more source