Results 191 to 200 of about 182,997 (357)

Muscular Dystrophy in Man and Animals [PDF]

, 1964
Geoffrey H. Bourne, Ma. Nelly Golatz
openalex   +1 more source

Heterogeneity of Cellular Senescence: Subtype‐Specific Mechanisms and the Emerging Role of Plasma Membrane Damage

Cancer Science, EarlyView.
Just as the term “cancer cell” encompasses a wide spectrum of cells, the term “senescent cell” should also be regarded as an umbrella term that includes cells with heterogeneous molecular profiles. In this review, we provide an updated overview of the molecular mechanisms underlying distinct senescent cell subtypes induced by various stimuli, including
Enaam Alghamdi, Keiko Kono
wiley   +1 more source

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +1 more source

Laevadosin in Muscular Dystrophy [PDF]

, 1965
J. N. Walton, S. S. Gubbay, P. Hudgson, D. J. Newell   +3 more
openalex   +1 more source

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Clinical Genetics, EarlyView.
We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová, Johana Kopčilová, Kamila Réblová, Magdaléna Soukup Vodičková, Martina Hujňáková, Jana Haberlová, Marie Rohlenová, Radim Mazanec, Jana Šoukalová, Renata Gaillyová, Emílie Vyhnálková, Miroslava Balaščaková, Pavlína Danhofer, Lenka Juříková, Dagmar Grečmalová, Andrea Gřegořová, Pavlína Plevová, Martina Langová, Tomáš Honzík, Martin Magner, Martina Klincová, Pavla Solařová, Mária Šenkeříková, Lenka Fajkusová   +26 more
wiley   +1 more source

Quantitative ultrasound assessment of Duchenne muscular dystrophy using edge detection analysis [PDF]

, 2016
Aarnink, Arai, Bhansing, Bickerstaffe, Boland, Bushby, Bushby, Canny, Chen, Emery, Gudmundsson, Hammoude, Hoffman, Hou, Jansen, Janssen, Mahmoud, Mazzone, Mazzone, McDonald, Peters, Pillen, Pillen, Rutkove, Schreiber, Shklyar, Torriani, Wu, Zaidman, Zaidman, Zwehl   +30 more
core   +2 more sources

Insights into the heterogeneity of oculopharyngeal muscular dystrophy. [PDF]

Neurogenetics
Kekou K, Papadopoulos C, Svingou M, Chrysanthou-Piterou M, Nitsa E, Veltra D, Marinakis N, Tilemis FN, Dimitrios P, Arnaoutoglou M, Moschou M, Xirou S, Bakirtzis C, Tsivgoulis G, Papadimas GK, Sofocleous C.   +15 more
europepmc   +1 more source

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

Clinical Genetics, EarlyView.
Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Reihaneh Khorasanian, Mariasavina Severino, Morteza Doustmohammadi, Francesca Madia, Siddharth Srivastava, Aisling Quinlan, Dario Paladini, Federico Zara, Marcello Scala   +11 more
wiley   +1 more source

P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis

Genetics in Medicine Open
Yinghong Pan, Fen Guo, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Ruby Liu, Kayla Quirin, Ann Martin, Madhuri Hegde   +7 more
doaj   +1 more source

Lysosomal damage is a therapeutic target in Duchenne muscular dystrophy. [PDF]

Sci Adv
Jaber A, Palmieri L, Bakour R, Bourg N, Hong AV, Lachiver E, Roudaut C, Poupiot J, Albini S, Stockholm D, Van Wittenberghe L, Miranda A, Tanniou G, Danièle N, Barthélémy I, Blot S, Bui MT, Das B, Malfatti E, Evangelista T, Richard I, Israeli D.   +21 more
europepmc   +1 more source