Results 51 to 60 of about 9,962,231 (339)

Lessons for future clinical trials in adults with Becker muscular dystrophy: Disease progression detected by muscle magnetic resonance imaging, clinical and patient‐reported outcome measures

European Journal of Neurology
Because Becker muscular dystrophy (BMD) is a heterogeneous disease and only few studies have evaluated adult patients, it is currently still unclear which outcome measures should be used in future clinical trials.
Bram De Wel, Louise Iterbeke, L. Huysmans, Ronald Peeters, V. Goosens, Nicolas Dubuisson, Peter van den Bergh, V. Van Parijs, G. Remiche, L. De Waele, Frederik Maes, Patrick Dupont, K. Claeys   +12 more
semanticscholar   +1 more source

An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy

Journal of Neuromuscular Diseases, 2022
Background: Glucocorticoid steroids are standard of care in Duchenne Muscular Dystrophy (DMD) to slow disease course. Use of glucocorticoids in other muscular dystrophies, including Becker (BMD) and Limb Girdle (LGMD), has been less explored.
Aaron S. Zelikovich, Benjamin C. Joslin, Patricia Casey, E. McNally, S. Ajroud-Driss   +4 more
semanticscholar   +1 more source

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   +1 more source

Vertebrate Hosts as Islands: Dynamics of Selection, Immigration, Loss, Persistence, and Potential Function of Bacteria on Salamander Skin. [PDF]

, 2016
Skin bacterial communities can protect amphibians from a fungal pathogen; however, little is known about how these communities are maintained. We used a neutral model of community ecology to identify bacteria that are maintained on salamanders by ...
Harris, Reid N, Knight, Rob, Loudon, Andrew H, McKenzie, Valerie J, Parfrey, Laura Wegener, Schmidt, Thomas M, Van Treuren, William, Venkataraman, Arvind, Woodhams, Douglas C   +8 more
core   +2 more sources

A Rare Case of Metastatic Hepatocellular Carcinoma Masquerading as a Forehead Hematoma

Case Reports in Gastrointestinal Medicine, 2020
Hepatocellular carcinoma (HCC) is the most common primary liver cancer and can arise from any form of chronic liver disease or cirrhosis. With increasing rates of metabolic syndrome and obesity, it is not surprising that NASH is quickly becoming a ...
Kimberly Sanders, Ashley Thomas, Carmen Isache, Anwer Siddiqi   +3 more
doaj   +1 more source

Ecologically‐Valid Emotion Signatures Enhance Mood Disorder Diagnostics

Advanced Science, EarlyView.
This study identifies ecologically‐valid Divergent Emotional Functional Networks (DEFN), derived from dynamic functional connectivity during naturalistic movie watching. The DEFN reliably enhances diagnostic accuracy for mood disorders, including major depressive and bipolar disorders, demonstrating strong reproducibility across demographic factors and
Shuyue Xu, Linling Li, Ting Luo, Gan Huang, Li Zhang, Benjamin Becker, Zhen Liang   +6 more
wiley   +1 more source

Muscular dystrophies: key elements for everyday diagnosis and management

Cardiogenetics, 2013
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life.
Alberto Palladino, Gerardo Nigro, Luisa Politano   +2 more
doaj   +1 more source

Utrophin modulator drugs as potential therapies for Duchenne and Becker muscular dystrophies

Neuropathology and Applied Neurobiology, 2021
Utrophin is an autosomal paralogue of dystrophin, a protein whose deficit causes Duchenne and Becker muscular dystrophies (DMD/BMD). Utrophin is naturally overexpressed at the sarcolemma of mature dystrophin‐deficient fibres in DMD and BMD patients as ...
Patricia Soblechero-Martín, A. López-Martínez, Laura de la Puente-Ovejero, A. Vallejo-Illarramendi, V. Arechavala-Gomeza   +4 more
semanticscholar   +1 more source

Mammalian Proteome Profiling Reveals Readers and Antireaders of Strand‐Symmetric and ‐Asymmetric 5‐Hydroxymethylcytosine‐Modifications in DNA

Advanced Science, EarlyView.
We investigate by proteomics studies how strand‐symmetric and ‐asymmetric cytosine 5‐modifications in DNA are selectively recognized by the nuclear proteome. Using promoter probes with defined modification patterns, we identify tissue‐specific reader proteinsincluding MYC, MAX, and RFX5that discriminate 5‐hydroxymethylcytosine symmetry and sequence ...
Lena Engelhard, Zeyneb Vildan Cakil, Marlon S. Zambrano‐Mila, Simone Eppmann, Tye Gonzalez, Rasmus Linser, Petra Janning, Sidney Becker, Daniel Summerer   +8 more
wiley   +1 more source

Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene

Molecular Therapy: Nucleic Acids, 2012
Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy.
Sue Fletcher, Carl F. Adkin, Penny Meloni, Brenda Wong, Francesco Muntoni, Ryszard Kole, Clayton Fragall, Kane Greer, Russell Johnsen, Steve D. Wilton   +9 more
doaj   +1 more source