Results 251 to 260 of about 120,291 (395)

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Neuromuscular Disorders, 2017
E. Mercuri, R. Finkel, F. Muntoni, B. Wirth, J. Montes, M. Main, E. Mazzone, M. Vitale, B. Snyder, S. Quijano-roy, E. Bertini, Rebecca Hurst Davis, Oscar H. Meyer, A. Simonds, M. Schroth, R. Graham, J. Kirschner, S. Iannaccone, T. Crawford, S. Woods, Y. Qian, T. Sejersen, F. Tiziano, E. Tizzano, H. Topaloğlu, K. Swoboda, N. Laing, S. Kayoko, T. Prior, W. Chung, Shou‐Mei Wu, E. Mazzone, Caron Coleman, R. Gee, A. Glanzman, A. Kroksmark, K. Krosschell, Leslie Nelson, K. Rose, A. Stępień, C. Vuillerot, J. Dubousset, D. Farrington, Jack Flynn, M. Halanski, C. Hasler, L. Miladi, C. Reilly, B. Roye, P. Sponseller, M. Yazici, R. Hurst, Stacey Tarrant, S. Barja, S. Bertoli, T. Crawford, K. Foust, B. Kyle, Lance H Rodan, H. Roper, E. Seffrood, K. Swoboda, A. Szlagatys-Sidorkiewicz   +62 more
semanticscholar   +1 more source

Reply to “Neurophysiological Testing to Diagnose Stiff‐Person Spectrum Disorder”

Movement Disorders Clinical Practice, EarlyView.
João Moura, Lorenzo Rocchi, Michael Zandi, Bettina Balint, Kailash P. Bhatia, Anna Latorre   +5 more
wiley   +1 more source

Bone Health Following Lifestyle‐Induced Weight Loss in Individuals With Overweight/Obesity: A Narrative Review

Obesity, EarlyView.
ABSTRACT Although weight loss has many health benefits for people with overweight/obesity, its potential negative impact on bone health needs to be considered. This review provides a comprehensive overview of the effects of intentional weight loss achieved by lifestyle changes on bone health outcomes in adults with overweight/obesity and discusses ...
Mélanie A. Legrand, Julien Paccou, Jean‐Michel Lecerf, Thierry Thomas, Roland Chapurlat, Bernard Cortet, Emmanuel Biver, Maria Papageorgiou   +7 more
wiley   +1 more source

Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report. [PDF]

BMJ Neurol Open
Siriniwasa H, Stirling MJL, Kean S, Pamphlett R, Silsby M.   +4 more
europepmc   +1 more source

Effect of Zoledronic Acid on Skeletal Muscle After Bariatric Surgery: A Secondary Analysis From a Randomized Controlled Trial

Obesity, EarlyView.
ABSTRACT Objective This study aimed to investigate whether a single infusion of 5 mg zoledronic acid, given before bariatric surgery to prevent bone loss, could also hinder the loss of muscle mass, strength, and physical function. Methods In this double‐blinded study, patients referred for bariatric surgery were randomized 1:1 to either intervention ...
Søren Gam, Anne Pernille Hermann, Claus Bogh Juhl, Stinus Gadegaard Hansen, Bibi Gram   +4 more
wiley   +1 more source

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience. [PDF]

Int J Neonatal Screen
Groulx-Boivin E, Belzile A, Nguyen CÉ, Gauthier A, Chrestian N, Michaud-Gosselin C, Giguère Y, Berthier MT, Soucy JF, Laberge AM, Oskoui M.   +10 more
europepmc   +1 more source

A New Phenotype–Genotype Correlation for FIG4 and Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Iro Boura, Panayiotis Mitsias, Sofia Erimaki, Efrosini Papadaki, Cleanthe Spanaki   +4 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The American College of Obstetricians and Gynecologists (ACOG) recommends offering spinal muscular atrophy (SMA) carrier screening (CS) preconception or prenatally. This study aimed to determine provider knowledge of SMA and SMA CS practice patterns and to describe the relationship between knowledge and comfort while discussing ...
Melissa Riegel, Whitney Bender, Elizabeth Critchlow, Lorraine Dugoff   +3 more
wiley   +1 more source

Vertebral rotation as a predictor of residual deformity following scoliosis correction in spinal muscular atrophy: a retrospective analysis. [PDF]

J Pediatr Orthop B
Hung CY, Tu PY, Liang WC, Lu CC, Tien YC, Jong YJ, Chou SH, Chen LM, Shen PC.   +8 more
europepmc   +1 more source