Results 271 to 280 of about 80,027 (353)

Spinal Muscular Atrophy: Present State

, 2001
H. Schmalbruch, Georg Haase
openalex   +2 more sources

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment

Clinical Genetics, EarlyView.
Cerebrotendinous xanthomatosis is due to biallelic pathogenic variants in CYP27A1. We report a new patient and his good neurocognitive outcome on the chenodeoxycholic acid treatment despite therapy starting at the age of 34 years. This highlights the importance of recognizing treatable inherited metabolic diseases at any age.
Randa Sultan, Marta Villa‐Lopez, Clara Hung, Morganne McCabe, Oksana Suchowersky, Jordan Urlacher, Saadet Mercimek‐Andrews   +6 more
wiley   +1 more source

Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series. [PDF]

Adv Ther
Coskery S, Erdler M, Frey MR, Lopez MA.
europepmc   +1 more source

Exercise Delays Brain Ageing Through Muscle‐Brain Crosstalk

Cell Proliferation, EarlyView.
This graphical abstract illustrates the reciprocal crosstalk between the brain and peripheral organs, highlighting the profound impact of exercise on brain health through systemic interactions. It underscores how exercise influences the brain via signals from various organs and, conversely, how the brain modulates functions of peripheral organs.
Shirin Pourteymour, Rakesh Kumar Majhi, Frode A. Norheim, Christian A. Drevon   +3 more
wiley   +1 more source

Cytoskeleton dysfunction of motor neuron in spinal muscular atrophy. [PDF]

J Neurol
Shi T, Zhou Z, Xiang T, Suo Y, Shi X, Li Y, Zhang P, Dai J, Sheng L.   +8 more
europepmc   +1 more source

Intelligent Manufacturing for Osteoarthritis Organoids

Cell Proliferation, EarlyView.
Overall schematic of intelligent manufacturing in osteoarthritis organoids. Broad overview of the article's structure, outlining the progression from fundamental joint anatomy and OA pathogenesis to organoid construction and, ultimately, to intelligent manufacturing and future prospects.
Xukun Lyu, Jian Wang, Jiacan Su
wiley   +1 more source

Skeletal Muscle Mitochondrial and Autophagic Dysregulation Are Modifiable in Spinal Muscular Atrophy. [PDF]

J Cachexia Sarcopenia Muscle
Mikhail AI, Ng SY, Xhuti D, Lesinski MA, Chhor J, Deguise MO, De Repentigny Y, Nederveen JP, Kothary R, Tarnopolsky MA, Ljubicic V.   +10 more
europepmc   +1 more source

Parental perspectives on family‐centered care in pediatric neurology: An explanatory sequential mixed‐methods study

Developmental Medicine &Child Neurology, EarlyView.
The proposed conceptual framework highlighting parents' central role in their child's healthcare experience. Abstract Aim To explore parents' experiences of family‐centered care (FCC) in a pediatric neurology clinic. Method In this explanatory sequential mixed‐methods study, parents of children with neurological conditions completed the Measure of ...
Ege Sarikaya, Courtney B. Cook, Kathryn A. Selby, Ye Shen, GenCOUNSEL Study, Alison M. Elliott, Jehannine Austin, Bartha Knoppers, Larry D. Lynd, Alivia Dey, Shelin Adam, Nick Bansback, Patricia Birch, Lorne Clarke, Nick Dragojlovic, Jan Friedman, Debby Lambert, Daryl Pullman, Alice Virani, Wyeth Wasserman, Ma’n Zawati, Alison M. Elliott   +21 more
wiley   +1 more source

Correction: "…They were just treating her Symptom by Symptom": maternal experiences of having a child with spinal muscular atrophy in Ghana. [PDF]

BMC Palliat Care
Tawiah ED, Sarfo JO.
europepmc   +1 more source

Juvenile asymmetric segmental spinal muscular atrophy (Hirayama's disease) Three cases without evidence of “flexion myelopathy”

, 2001
Johann Willeit, Stefan Kiechl, Ursula Kiechl‐Kohlendorfer, S. Golaszewski, S. Peer, W. Poewe   +5 more
openalex   +1 more source