Results 161 to 170 of about 51,591 (290)

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

The Use of the Four Square Step Test and the 10‐m Walk/Run Test to Determine Fall Risk in Children With Duchenne Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims The identification of the risk of falling in Duchenne muscular dystrophy (DMD) is essential for the implementation of timely preventive approaches. This study aimed to examine the ability of the four square step test (FSST) and the 10‐m walk/run test (10MWRT) to discriminate between fallers and non‐fallers in children with ...
Numan Bulut, Esra Aldırmaz, İpek Alemdaroğlu‐Gürbüz, Öznur Tunca   +3 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

Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa. [PDF]

Hum Mol Genet, 2017
Conley SM, Stuck MW, Watson JN, Naash MI.   +3 more
europepmc   +1 more source

Low‐contrast visual acuity versus low‐luminance visual acuity in choroideremia

Clinical and Experimental Optometry, EarlyView., 2020
Clinical relevance Choroideremia is a progressive X‐linked inherited rod‐cone dystrophy. Patients present with nyctalopia and progressive visual field loss, but visual acuity remains well preserved early on. This study showed that low‐luminance visual acuity may be a useful clinical outcome measure during earlier disease stages.
Laura J Wood, Jasleen K Jolly, Colm D Andrews, Iain R Wilson, Doron Hickey, Jasmina Cehajic‐Kapetanovic, Robert E MacLaren   +6 more
wiley   +1 more source

A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration. [PDF]

Hum Mol Genet
Cavanaugh BL, Milstein ML, Boucher RC, Tan SX, Hanna MW, Seidel A, Frederiksen R, Saunders TL, Sampath AP, Mitton KP, Zhang DQ, Goldberg AFX.   +11 more
europepmc   +1 more source

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

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