Results 121 to 130 of about 1,729 (232)

Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study. [PDF]

Eur J Neurol
Bjelica B, Wohnrade C, Osmanovic A, Schreiber-Katz O, Koerner S, Kollewe K, Haeckl S, Freigang M, Cordts I, Becker B, Vogt C, Muhandes MT, Günther R, Deschauer M, Koch JC, Tuerk M, Regensburger M, Neuwirth C, Petri S.   +18 more
europepmc   +1 more source

Population Physiologically‐Based Pharmacokinetic Modeling to Determine Ontogeny: A Quantitative Clinical Pharmacology Example in Pediatric Rare Disease

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 2, February 2026.
ABSTRACT Pediatric physiologically‐based pharmacokinetic (PBPK) modelling plays an increasing role in selecting doses in children and addressing clinical pharmacology questions. Ethical concerns often limit clinical pharmacology studies that have no direct therapeutic benefit in children, highlighting the value of PBPK model predictions.
Yumi Cleary, Bhagwat Prasad, Kayode Ogungbenro, Michael Gertz, Aleksandra Galetin   +4 more
wiley   +1 more source

Real-world evidence of Nusinersen treatment for patients with spinal muscular atrophy in the Kingdom of Saudi Arabia: Initial insights from the Saudi national spinal muscular atrophy program. [PDF]

Saudi Med J
Al-Jedai AH, Almudaiheem HY, Alaama TY, Alsaman ASS, Abdo Bashiri F, Almuhaizae MA, Alghamdi FA, Alsakran AA, Matter EAY, Ibrahim FZ.   +9 more
europepmc   +1 more source

Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 12, Issue 1, Page 1-24, February 2026.
ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association; Society of Audiology and Vestibular Medicine, China International Exchange and Promotive Association for Medical and Health Care, Hong‐Yang Wang, Guo‐Hui Nie, Xiao‐Nan Wu, Ding‐Jun Zha, Tao Shi, Hai‐Bo Shi, Yong Feng, Wen‐Yan Li, Hai‐Hong Liu, Qing Zhang, Xiao‐Wei Chen, Xia Gao, Yong‐Xin Li, Lu Ma, Jin Li, Dan‐Yang Li, Xiao‐Long Zhang, Meng‐Tao Song, Xin Zhou, Lan Lan, Lan Yu, Meng‐Qian Zhang, Wei Shi, Fen Xiong, Lin‐Yi Xie, Guo‐Hui Chen, Kai‐Li Wu, Xiao‐Qian Ren, Qiu‐Jing Zhang, Ming‐Hui Zhao, Zi‐Yi Chen, Fei Ji, Jiao Zhang, Jing Guan, Da‐Yong Wang, Ren‐Jie Chai, Xin Jin, Hua‐Wei Li, Shi‐Ming Yang, Shan‐Kai Yin, Qiu‐Ju Wang   +43 more
wiley   +1 more source

Comorbidities in spinal muscular atrophy and their impact on the course of the underlying disease: a real-life observational study. [PDF]

BMC Musculoskelet Disord
Błauciak M, Ubysz J, Wieczorek M, Koszewicz M.   +3 more
europepmc   +1 more source

Efficacy of physiotherapy and aquatherapy in children with spinal muscular atrophy: a literature review [PDF]

La atrofia muscular espinal (AME) se caracteriza por ser una enfermedad autosómica recesiva que ocasiona que en la médula espinal se degeneren las neuronas motoras alfa; lo cual, conlleva a debilidad muscular proximal progresiva.
Sotelo Rospigliosi, Milagros Cristina
core  

Profound Cognitive Impairment as a Salient Feature of Multiple Sclerosis: A Case Report

Clinical and Experimental Neuroimmunology, Volume 17, Issue 1, February 2026.
ABSTRACT Background Cognitive impairment affects up to two‐thirds of patients with multiple sclerosis (MS); however, profound global deficits, defined as a full‐scale IQ below 70, are uncommon and rarely constitute the primary symptom. Case Presentation We describe a 27‐year‐old woman with severe multidomain cognitive impairment due to MS ...
Shota Ito, Madoka Iida, Yuki Fukami, Masahisa Katsuno   +3 more
wiley   +1 more source

Course of joint range of motion in children with spinal muscular atrophy receiving disease-modifying treatment. [PDF]

Orphanet J Rare Dis
Oude Lansink ILB, Gorter JW, van der Pol WL, Vd Woude DR, Scheiberlich PJ, van Eijk RPA, Bartels B, Beelen A.   +7 more
europepmc   +1 more source

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +1 more source

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies. [PDF]

Genes (Basel)
Škarica M, Acsadi G, Živković SA.
europepmc   +1 more source