Results 191 to 200 of about 2,481 (285)

Diagnostic Journey of Korean Patients with Spinal Muscular Atrophy. [PDF]

Yonsei Med J
Kim SH, Lee CS, Lee SR, Choi YC, Kim SW, Shin HY, Park HJ.   +6 more
europepmc   +1 more source

Enhancing Rare Disease Awareness and Education Among Medical Professionals and Students in Türkiye

Journal of Evaluation in Clinical Practice, Volume 31, Issue 5, August 2025.
ABSTRACT Purpose Rare diseases (RDs), which are often chronic, degenerative, and life‐threatening conditions, pose significant challenges due to their complexity and limited awareness among healthcare professionals. This study assessed the knowledge, awareness, and educational needs related to RDs among 5th‐ and 6th‐year medical students at Atatürk ...
Öznur Karagöz, Buşranur Tırtır, Dilek Güneş, Özge Özgen, Mustafa Özçetin, Gülbin Gökçay, Gülden F. Gökçay, Abdolrahman S. Nateri, Fatmahan Atalar   +8 more
wiley   +1 more source

Respiratory outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy: national real-world cohort study. [PDF]

Eur J Pediatr
Lavie M, Rochman M, Armoni Domany K, Golan Tripto I, Be'er M, Besor O, Sagi L, Aharoni S, Ginsberg M, Noyman I, Levine H.   +10 more
europepmc   +1 more source

Botulinum Neurotoxins: History, Mechanism, and Applications. A Narrative Review

Journal of Neurochemistry, Volume 169, Issue 8, August 2025.
Botulinum neurotoxins (BoNTs), produced by Clostridium botulinum, bind irreversibly to presynaptic cholinergic nerve terminals and exploit a zinc‐dependent mechanism to cleave SNARE proteins, blocking acetylcholine release and causing flaccid paralysis.
Arik Monash, Joseph Tam, Osnat Rosen, Hermona Soreq   +3 more
wiley   +1 more source

Pediatric non-Hodgkin lymphoma as a rare cause of spinal cord injury: When lymphoma hides in the canal. [PDF]

Clin Case Rep
Zama D, Candela E, Pagano G, Venturelli F, Melchionda F, Toni F, Zucchelli M, Pession A.   +7 more
europepmc   +1 more source

Transitioning From Nusinersen to Risdiplam for Spinal Muscular Atrophy in Clinical Practice: A Single-Center Experience. [PDF]

Muscle Nerve
Bekircan-Kurt CE, Subramanian S, Chagat S, Mackenzie SJ, Iammarino M, Reash N, Richardson C, Tsao CY, Noritz G, Gushue C, Kotha K, Paul G, Shell R, Alfano LN, Lowes LP, Connolly AM, Waldrop MA.   +16 more
europepmc   +1 more source

Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study. [PDF]

BMJ Open
Abbott L, Main M, Wolfe A, Rohwer A, Baranello G, Munot P, Manzur A, Muntoni F, Scoto M, SMA-REACH UK Network Physiotherapists.   +9 more
europepmc   +1 more source

Spinal adhesive arachnoiditis in an adult patient with spinal muscular atrophy type 3 treated with intrathecal therapy. [PDF]

BMC Neurol
Ubysz J, Koszewicz M, Bladowska J, Budrewicz S.   +3 more
europepmc   +1 more source

Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level. [PDF]

Acta Myol
Hedberg-Oldfors C, Jennions E, Visuttijai K, Oldfors A.   +3 more
europepmc   +1 more source

Progressive muscular dystrophies: illustrated by two cases [PDF]

, 1899
Caine, Nathaniel
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