Results 201 to 210 of about 378,998 (299)

Nusinersen for spinal muscular atrophy

Therapeutic Advances in Neurological Disorders, 2018
Claudia D. Wurster, Albert C. Ludolph
doaj   +1 more source

Anesthetic Management for Cesarean Delivery in a Pregnant Patient With Spinal Muscular Atrophy Type 2: A Case Report. [PDF]

Case Rep Anesthesiol
Lopez Saenz JG, Bonilla Acosta C, Carvajal Villalobos J, Acuna Chinchilla S.   +3 more
europepmc   +1 more source

Characterization and Selection of Contractile Actuators for Soft Robotics Operating in the Quasistatic Regime

Advanced Intelligent Systems, EarlyView.
We developed methods to characterize soft contractile actuators using force–displacement measurements in the passive state and the total force in the active state and define the operational range of thermal, electrothermal, and pneumatic muscles. A graphical method enables the selection of an actuator based on the required mechanical force–displacement
Qiong Wang, Liuyang Cheng, Jeongmin Kim, Samuel Tsai, Devin Roach, Sameh Tawfick   +5 more
wiley   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy. [PDF]

Ann Neurol
D'Silva A, Herbert K, Balaji L, He JM, Kandula T, Sampaio HA, Teoh HL, Tantsis E, Sohn J, Briggs N, Ning N, Kiernan MC, Kariyawasam DS, Farrar MA.   +13 more
europepmc   +1 more source

AI‐Assisted IoT‐Enabled ECG Monitoring: Integrating Foundational and Generative AI Tools for Sustainable Smart Healthcare—Recent Trends

AI &Innovation, EarlyView.
ABSTRACT The rapid evolution of the Internet of Things (IoT) has significantly advanced the field of electrocardiogram (ECG) monitoring, enabling real‐time, remote, and patient‐centric cardiac care. This paper presents a comprehensive survey of AI assisted IoT‐based ECG monitoring systems, focusing on the integration of emerging technologies such as ...
Amrita Choudhury, Kandarpa Kumar Sarma, Lachit Dutta   +2 more
wiley   +1 more source

Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment. [PDF]

RNA Biol
Singh NN, Ottesen EW, Singh RN.
europepmc   +1 more source

Electromyographic analysis in spinal progressive muscular atrophy, juvenile unilateral muscular atrophy, neural progressive muscular atrophy and myeloradiculoneuritis.

Nagoya journal of medical science, 1966
IIDA, MITSUO, FUJIWARA, RYOSHIN, YAMAMURA, YASUHIRO   +2 more
openaire   +2 more sources

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Longitudinal multi-omics profiling of spinal muscular atrophy. [PDF]

Neurotherapeutics
Dabaj I, Nguyen THY, Lagrue E, Ducatez F, Allouche S, Ausseil J, Seferian A, Gomez-Garcia de la Banda M, Benezit A, Phelep A, Chouchane M, Vasseur S, Chapart M, Marret S, Quijano Roy S, Tebani A, Bekri S.   +16 more
europepmc   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source