Results 61 to 70 of about 566,882 (313)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Tribocorrosion of total hip replacements [PDF]

, 2012
The performance of metal-on-metal total hip replacements is largely determined by their propensity to degrade in vivo. Degradation occurs through the complex interactions between wear and corrosion (termed tribocorrosion) and leads to the production of ...
Hesketh, James Edward Tilston
core  

Recurrence Of Cam Lesions: A Two-year Follow-up

Orthopaedic Journal of Sports Medicine, 2014
Objectives: Early skepticism of surgery for femoroacetabular impingement arose in part from suspicion that the cam lesion on the femoral head-neck junction would recur after initial resection.
Asheesh Gupta MD, MPH, John M. Redmond MD, Kevin F. Dunne BS, Nathan Finch MA, Christine E. Stake MA, Benjamin G. Domb MD   +5 more
doaj   +1 more source

Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu, Xiaoning Ren, Cuihua Fan, Chun Li, Lijie Zhang, Zaiqiang Zhang, Shaowu Li, Zhongmeng Lai, Bin Cai, Ying Fu, Yi Lin, Zhibao Zhu   +11 more
wiley   +1 more source

Total Hip Arthroplasty for Arthrodesed Hips [PDF]

Journal of Orthopaedic Surgery, 2002
The benefits of converting an ankylosed or arthrodesed hip to total hip arthroplasty have been reported in the literature as have the technical difficulties associated with this procedure. 1,2,4 This review, however, outlines the experience of a single surgeon (WJMB) at a single institution ...
M.B. Howard, W.J.M. Bruce, W. Walsh, J.A. Goldberg   +3 more
openaire   +3 more sources

A study of gender issues within hip hop dance in contemporary society [PDF]

, 2013
The principle aim of this dissertation is to examine how members of a British all-female hip hop dance group have become professional hip hop dancers despite the gender issues attached to hip hop dance and its originally underground nature.
D'Andrea, Cristina
core  

Hip fractures and area level socioeconomic conditions: a population-based study

, 2009
Icks A, Haastert B, Wildner M, et al. Hip fractures and area level socioeconomic conditions: a population-based study. BMC Public Health. 2009;9(1):114.Background: Only a limited number of studies have analyzed the association between hip fracture ...
Becker Clemens, Icks, Andrea, Wildner, Manfred, Wildner Manfred, Rosenbauer, Joachim, Joachim Rosenbauer, Burkhard Haastert, Nico Dragano, Becker, Clemens, Andrea Icks, Clemens Becker, Meyer, Gabriele, Haastert Burkhard, Dragano Nico, Meyer Gabriele, Manfred Wildner, Haastert, Burkhard, Rosenbauer Joachim, Gabriele Meyer, Kilian Rapp, Dragano, Nico, Rapp, Kilian, Icks Andrea, Rapp Kilian   +23 more
core   +1 more source

Contemporary risk of hip fracture in type 1 and type 2 diabetes:a national registry study from Scotland [PDF]

, 2014
The purpose of this study was to compare contemporary risk of hip fracture in type 1 and type 2 diabetes with the nondiabetic population. Using a national diabetes database, we identified those with type 1 and type 2 diabetes who were aged 20 to 84 years
McKnight, John, Looker, Helen C., Leese, Graham P., Livingstone, Shona J., Wild, Sarah H., Ahmed, S. Faisal, Philip, Sam, Wild, Sarah H.; id_orcid, Hothersall, Eleanor J., Cleland, Steve, Lindsay, Robert S., Cleland, Steve., Pearson, Donald, Colhoun, Helen M.   +13 more
core   +1 more source

Intraoperative Discovery of an Abnormal Tensor Fasciae Latae Insertion During Direct Anterior Approach Total Hip Arthroplasty: A Case Report

Case Reports in Orthopedics
We report the case of a 53-year-old female with end-stage osteoarthritis who underwent total hip arthroplasty via lateral decubitus direct anterior approach (DAA).
Run Liu, Zhiming Yu, Qi Sun, Changcheng Liu, Xinyu Nan   +4 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source