Results 131 to 140 of about 19,684 (296)

Optimizing Research Operations and Resource Utilization in ALS Care: Insights From the Tofersen Antisense Oligonucleotide Expanded Access Protocol

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Tofersen is a gene‐targeted therapy for individuals with superoxide dismutase 1 (SOD1) (+) amyotrophic lateral sclerosis (ALS). Prior to U.S. Food and Drug Administration (FDA) approval, tofersen was made available through expanded access protocol.
Alison Wheeler, Kush Mehta, Danica Sanders, Cathy Chin, Hannah Zivalic, Judith Carey, Alexandra McCaffrey, Pravin Pant, Carl Lewenhaupt, Sarah Luppino, Gabriel Jacobs, Shea Golden, Ryan Gifford, Erica Scirocco, Mackenzie Keegan, Munaf Hatem, Taravat Yazdanian, Sanem P. Uysal, Natalie Susco, Shauna Schwartzman, Karen Branch, Kathryn E. Hall, Joanna Barnas, Jenny Lam, Jennifer Hagar, Carol Ann Hannan, Sabrina Paganoni, James D. Berry, Mark Garret, Jennifer Scalia, Suma Babu   +30 more
wiley   +1 more source

No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease

Movement Disorders, EarlyView.
Chia‐Ying Ko, Leon Schütz, Thomas Braun, Elena Buena‐Atienza, Nicolas Casadei, Danique Beijer, Ludger Schöls, Tobias B. Haack, Stephan Ossowski, Holger Hengel   +9 more
wiley   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Congenital muscular dystrophies: clinical review and proposed classification

, 1995
The clinical spectrum of the congenital muscular dystrophies is reviewed using as a sample population 10 Sicilian patients with various clinical subtypes.
Fiumara A, Falsaperla R, Parano E, Pavone L, Trifiletti RR, Dobyns WB   +5 more
core   +1 more source

Time‐Restricted Eating Promotes Weight Loss and Favorable Changes in Adipose in Obesity: The TREAD Randomized Control Trial

Obesity, EarlyView.
ABSTRACT Objective Examine time‐restricted eating (TRE) as a strategy to promote weight loss and cardiometabolic health in adults with obesity. Methods TRE in obesity and ADipose Tissue (TREAD) was a single‐center 12‐week RCT, involving 1:1 randomization to 10‐h TRE versus standard of care (SOC) in adults with obesity (BMI 30–50 kg/m2) without diabetes
Michael J. Wilkinson, Erika Padilla, Yuqi Wang, Sawye Raygani, Emily N. C. Manoogian, Kyla Laing, Khang Tong, Lin Liu, David Van, Justina Nguyen, Alan R. Saltiel, Shannon M. Reilly, Monica O'Neal, Satchidananda Panda, Amit R. Majithia, Pam R. Taub   +15 more
wiley   +1 more source

Etiology and Pathogenesis of the Muscular-dystrophies

, 1995
Despite intensive research efforts, the cause of the muscular dystrophies has remained elusive for many decades. In the late 1980s, major advances in molecular genetics have led to the discovery of the dystrophin gene and its protein product, dystrophin.
Vandenbergh, PYK., Tome, FMS., Fardeau, M.   +2 more
core  

Error Traps in Pediatric Neuromuscular Block

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Neuromuscular blocking agents are essential for safe pediatric anesthesia but remain a frequent source of preventable morbidity when misused, inadequately monitored, or incompletely reversed. Children, particularly neonates and infants, are especially vulnerable to residual neuromuscular block due to developmental pharmacological ...
Gabriel Soares de Sousa, Debra Faulk, Vinicius Caldeira Quintao, Niekoo Abbasian, Hans D. de Boer, Ricardo Vieira Carlos   +5 more
wiley   +1 more source

Molecular and Pathological Diagnosis of Muscular Dystrophies [PDF]

, 2006
The muscular dystrophies are a diverse group of inherited muscle disorders characterized by progressive muscle weakness and wasting with characteristic histologic abnormalities such as degeneration, necrosis, and regeneration of muscle fibers.
최영철
core  

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source