Results 1 to 10 of about 58,003 (251)

Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies [PDF]

Journal of Cachexia, Sarcopenia and Muscle, 2018
Background Analysis of muscle biopsies allowed to characterize the pathophysiological changes of Duchenne and Becker muscular dystrophies (D/BMD) leading to the clinical phenotype.
Pietro Spitali, Kristina Hettne, Roula Tsonaka, Mohammed Charrout, Janneke van denBergen, Zaïda Koeks, Hermien E. Kan, Melissa T. Hooijmans, Andreas Roos, Volker Straub, Francesco Muntoni, Cristina Al‐Khalili‐Szigyarto, Marleen J.A. Koel‐Simmelink, Charlotte E. Teunissen, Hanns Lochmüller, Erik H. Niks, Annemieke Aartsma‐Rus   +16 more
doaj   +8 more sources

Serum titin/creatinine ratio as a biomarker for discriminating disease severity in Duchenne and Becker muscular dystrophies

Frontiers in Neurology
IntroductionDuchenne/Becker muscular dystrophies (DMD/BMD) are inherited muscle diseases, collectively referred to as dystrophinopathy, which are characterized by progressive degeneration or loss.
Yoshinori Nambu, Kayo Osawa, Taku Shirakawa, Aiko Sunami, Shoko Sonehara, Ryosuke Bo, Kandai Nozu, Masafumi Matsuo, Hiroyuki Awano   +8 more
doaj   +5 more sources

Becker congenital myotonia in black African with molecular findings

Egyptian Journal of Medical Human Genetics, 2022
Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin, Diane Adovoekpe, Marius Adjagba, Jules Alao, Gratien Sagbo, Constant Adjien, Anatole Laleye   +6 more
doaj   +2 more sources

Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Journal of Methods and Measurement in the Social Sciences, 2010
Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric.
Melinda F. Davis, Katalin H. Scherer, Timothy M. Miller, F. John Meaney   +3 more
doaj   +3 more sources

Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry [PDF]

Journal of Personalized Medicine, 2020
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder generally caused by out-of-frame mutations in the DMD gene. In contrast, in-frame mutations usually give rise to the milder Becker muscular dystrophy (BMD). However, this reading frame rule does not always hold true. Therefore, an understanding of the relationships between genotype and
Toshifumi Yokota, Kenji Rowel Q Lim, Quynh Nguyen   +2 more
exaly   +3 more sources

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

Frontiers in Pediatrics, 2023
IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe ...
Aydan Kansu, Zarife Kuloglu, Gökhan Tümgör, Didem Gülcü Taşkın, Buket Dalgıç, Gönül Çaltepe, Kaan Demirören, Güzide Doğan, Ceyda Tuna Kırsaçlıoğlu, Duran Arslan, İshak Abdurrahman Işık, Hülya Demir, Özlem Bekem, Yasin Şahin, Nevzat Aykut Bayrak, Mukadder Ayşe Selimoğlu, Sibel Yavuz, İbrahim Ethem Taşkaya, Derya Altay, the VICTORIA Study Group, Didem Gülcü Taşkın, Ayşegül Bükülmez, Arzu Meltem Demir, Yavuz Tokgöz, Aydan Kansu, Zarife Kuloğlu, Ceyda Tuna Kırsaçlıoğlu, Hasret Ayyıldız, Günsel Kutluk, Meryem Keçeli Başaran, Oya Balcı Sezer, Tanju Başarır Özkan, Taner Özgür, Gonca Handan Üstündağ, Eda Somuncu, Gökhan Tümgör, Sibel Yavuz, Ali İşlek, Ferda Özbay Hoşnut, Gülseren Evirgen Şahin, Duran Arslan, Derya Altay, Yaşar Doğan, Uğur Deveci, Buket Dalgıç, Kamercan Ceylan, Ahmet Baştürk, Necati Balamtekin, Melike Arslan, Hülya Demir, Hayriye Hızarcıoğlu Gülşen, Güzide Doğan, Atakan Comba, Mukadder Ayşe Selimoğlu, İlknur Varol, Sebahat Çam, Eylem Sevinç, Erkan Doğan, Murat Çakır, Burcu Güven, Suna Selbuz, Hacer Fulya Gülerman, Zeynep Arslan, Ayşen Uncuoğlu, Neslihan Gürcan Kaya, Deniz Ertem, Engin Tutar, Burcu Volkan, Yasin Şahin, Yusuf Usta, Asuman Nur Karhan, Gönül Çaltepe, İbrahim Ethem Taşkaya, Halil Kocamaz, Tuğba Gürsoy Koca, Fatih Ünal, Birol Öztürk, Cansu Altuntaş, Halil Haldun Emiroğlu, Meltem Gümüş, Mustafa Akçam, Yeliz Çağan Appak, Betül Aksoy, Elif Sağ, İshak Abdurrahman Işık, Ulaş Emre Akbulut, Özlem Bekem, Cahit Barış Erdur, Nafiye Urgancı, Ayşe Merve Usta, Coşkun Çeltik, Nelgin Gerenli, Nevzat Aykut Bayrak, Kaan Demirören   +93 more
doaj   +3 more sources

Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Journal of Methods and Measurement in the Social Sciences, 2011
Reports an error in Davis et al. (2010).  The functional motor scale used in Davis et al. (2010) was the EK (Egen Klassifikation) Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum Stambler ...
Melinda F. Davis, Katalin H. Scherer, Timothy M. Miller, F. John Meaney   +3 more
doaj   +4 more sources

Givinostat for Becker muscular dystrophy: A randomized, placebo-controlled, double-blind study

Frontiers in Neurology, 2023
ObjectiveNo treatments are approved for Becker muscular dystrophy (BMD). This study investigated the efficacy and safety of givinostat, a histone deacetylase pan-inhibitor, in adults with BMD.MethodsMales aged 18–65 years with a diagnosis of BMD ...
Giacomo P. Comi, Giacomo P. Comi, Erik H. Niks, Erik H. Niks, Krista Vandenborne, Claudia M. Cinnante, Hermien E. Kan, Hermien E. Kan, Rebecca J. Willcocks, Daniele Velardo, Francesca Magri, Michela Ripolone, Jules J. van Benthem, Nienke M. van de Velde, Nienke M. van de Velde, Simone Nava, Laura Ambrosoli, Sara Cazzaniga, Paolo U. Bettica   +18 more
doaj   +3 more sources

Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies

Biomolecules & Biomedicine, 2015
Mutations of the dystrophin DMD gene, essentially deletions of one or several exons, are the cause of two devastating and to date incurable diseases, Duchenne (DMD) and Becker (BMD) muscular dystrophies.
Elisabeth Le Rumeur
doaj   +4 more sources

Molecular Diagnosis of Duchenne/Becker muscular dystrophy in a family with no pathological antecedents of the disease

Medisur, 2018
Foundation: Duchenne and  Becker muscular dystrophies are progressive neuromuscular diseases with a pattern of recessive inherited link to chromosome X and caused by mutations in the gene which codifies for dystrophin.
Ivonne Martín Hernández, Alejandro Ariosa Olea, Mariesky Zayas Guillot, Tatiana Zaldívar Vaillant, Celia Rosa Soto Pérez-Stable   +4 more
doaj   +1 more source