Results 301 to 310 of about 80,027 (353)

Real-world analysis of the efficacy and safety of nusinersen in pediatric patients with spinal muscular atrophy. [PDF]

Orphanet J Rare Dis
Li W, Zhang Q, Miao H, Xu J.
europepmc   +1 more source

Embracing the future: Neonatal screening for epileptic syndromes

Epilepsia, EarlyView.
Rima Nabbout, Mathieu Kuchenbuch
wiley   +1 more source

MRI‐based surrogates of brain clearance in narcolepsy type 1

Journal of Sleep Research, EarlyView.
Summary Brain clearance involves the drainage of waste molecules from the brain, a process that is suggested to be amplified during sleep. Recently proposed MRI‐based methods attempt to approximate human brain clearance with surrogate measures. The current study aimed to explore whether two brain clearance surrogates are altered in narcolepsy.
Eva M. van Heese, Jari K. Gool, Gert Jan Lammers, Ysbrand D. van der Werf, Matthias J. P. van Osch, Rolf Fronczek, Lydiane Hirschler   +6 more
wiley   +1 more source

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community. [PDF]

Int J Neonatal Screen
Berzal-Serrano A, García-Bohórquez B, Aller E, Jaijo T, Pitarch-Castellano I, Rausell D, García-García G, Millán JM.   +7 more
europepmc   +1 more source

The lumbar multifidus : from anatomy to rehabilitation [PDF]

, 2010
Cagnie, Barbara, Danneels, Lieven, Dickx, Nele   +2 more
core   +1 more source

Enteric neuropathy and the vagus nerve: Therapeutic implications

Neurogastroenterology &Motility, EarlyView.
Abstract Enteric neuropathies are characterized by abnormalities of gut innervation, which includes the enteric nervous system, inducing severe gut dysmotility among other dysfunctions. Most of the gastrointestinal tract is innervated by the vagus nerve, the efferent branches of which have close interconnections with the enteric nervous system and ...
Bruno Bonaz
wiley   +1 more source

Safety and Efficacy of Nusinersen Focusing on Renal and Hematological Parameters in Spinal Muscular Atrophy. [PDF]

Brain Behav
Bahadır Şenol H, Yıldız G, Polat Aİ, Aydın A, Hız AS, Soylu A, Yiş U.   +6 more
europepmc   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, EarlyView.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

Sensory Nerve Action Potential Analysis in a Cohort of Patients With Spinal Muscular Atrophy Aged 12 Years and Older. [PDF]

Muscle Nerve
Ros LAA, Sleutjes BTHM, Goedee HS, Asselman FL, Cuppen I, van Eijk RPA, van der Pol WL, Wadman RI.   +7 more
europepmc   +1 more source