Results 191 to 200 of about 31,230 (296)

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross‐Border Surveillance in Germany, Austria, and Switzerland

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare urea cycle disorder characterized by progressive spastic paraplegia, developmental delay, epilepsy, and episodic hyperammonemia. Evidence on prevalence and clinical presentation is scarce. Therefore, epidemiology and the phenotypical spectrum were assessed in Germany, Austria, and Switzerland ...
Svenja Scharre, Annette L. Hess, Florian Gleich, Sven F. Garbade, Patrik Feyh, Daniela Karall, Anna Baghdasaryan, Martina Huemer, Julia B. Hennermann, Andreas Hahn, Martin Lindner, Gwendolyn Gramer, Thomas Luecke, Nils Kleinelanghorst, Johannes Haeberle, Amelie S. Lotz‐Havla, Georg F. Hoffmann, Juergen G. Okun, Ulrike Muetze, Stefan Kölker   +19 more
wiley   +1 more source

The Effect of Botulinum Neurotoxin-A (BoNT-A) on Muscle Strength in Adult-Onset Neurological Conditions with Focal Muscle Spasticity: A Systematic Review. [PDF]

Toxins (Basel)
Gill R, Banky M, Yang Z, Medina Mena P, Woo CCA, Bryant A, Olver J, Moore E, Williams G.   +8 more
europepmc   +1 more source

Delay in Diagnosis of Classical Homocystinuria

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake, Reena Sharma, Diane Green, John Bassett, Tarekegn Geberhiwot, Charlotte Dawson   +5 more
wiley   +1 more source

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT 2‐oxyglutarate dehydrogenase (OGDH) encodes an E1 component of α‐ketoglutarate dehydrogenase complex that plays a pivotal role in the Krebs cycle. Biallelic variants in OGDH have been reported to cause an early‐onset neurodevelopmental and mitochondrial disorder.
Liedewei Van de Vondel, Gyu S. Lee, Jonathan De Winter, Satoshi Matsuzaki, Abigail Sandoval, Juan Felipe Ramirez, Alice Monticelli, Sukyeong Lee, Rita Horvath, Jan de Bleecker, Stephan Züchner, Kenneth M. Humphries, Jonathan Baets, Wan Hee Yoon   +13 more
wiley   +1 more source

Ultrasound-Guided Botulinum Neurotoxin Injection for Alleviating Cricopharyngeus Muscle Spasticity: A Cadaveric Feasibility Study with Nerve Ending Analysis. [PDF]

Toxins (Basel)
Lee JH, Lee HJ, Kim BH.
europepmc   +1 more source

Core Stability Training for Post‐Stroke Recovery: A Multifaceted Approach to Enhance Postural Control and Motor Function

Physiotherapy Research International, Volume 31, Issue 3, July 2026.
ABSTRACT Stroke survivors commonly experience deficits in postural control and motor function, significantly impacting their independence and quality of life. Core Stability Training (CST) has emerged as a promising intervention to address these challenges.
Ying Huang, Jianfei Song
wiley   +1 more source

Cerebral palsy in Brazil: A multicentre, cross‐sectional, descriptive study

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page 983-989, July 2026.
Main clinical and perinatal characteristics of children and adolescents with cerebral palsy from a nationwide rehabilitation network in Brazil. This original article is commented on by Cuestas on pages 883‐884 of this issue. Portuguese translation of this Original Article is available in the online issue.
Eliana Valverde Magro Borigato, Bruno Leonardo Scofano Dias, Erica Ueno Imamura, Sandro Barbosa de Oliveira, Erika Carvalho Pires Arci, Alessandra Lemos de Carvalho, Acácia Pinheiro Álvares Fernandes da Silva, Fernanda Jordão Pinto Marques, Lucia Willadino Braga, SARAH Pediatric Rehabilitation Team, Liliane Baía Silva, Lorena Moraes e Macedo Tostes, Fernanda de Lourdes da Cunha Pinto, Danielle Bruno Jardim, Raquel Fernandes Moreira, Rafaela Christine Dutra, Marta Cristina da Silva Teixeira   +16 more
wiley   +1 more source

Epidemiology of cerebral palsy in Brazil through the lens of the International Classification of Functioning, Disability and Health framework

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page 990-1004, July 2026.
This original article is commented on by Cuestas on pages 883‐884 of this issue. Portuguese translation of this Original Article is available in the online issue. Abstract Aim To establish an overall description of people with cerebral palsy (CP) in Brazil, including the epidemiology, clinical features, functioning, and access to rehabilitation and ...
Hércules Ribeiro Leite, Luana Cristina da Silva, Elton Duarte Dantas Magalhães, Israt Jahan, Nadia Badawi, Gulam Khandaker, Maysa Ferreira Martins Ribeiro, Juliana de Alcântara Moreira Pereira, Luma Sthephanine Viana Roque da Silva, Maria de las Mercedes Ruiz Brunner, Paula Silva de Carvalho Chagas   +10 more
wiley   +1 more source

Management of an uncommon complication using botulinum toxin type A following prosthetic laryngoplasty

Equine Veterinary Education, Volume 38, Issue 7, Page e406-e411, July 2026.
Summary An uncommon complication following prosthetic laryngoplasty was reported in a 4‐year‐old Andalusian mare. The mare was presented with a previously diagnosed left‐sided recurrent laryngeal neuropathy, after initial evaluation the mare underwent ventriculocordectomy and prosthetic laryngoplasty.
J. L. Sanclemente, D. S. Larriva, C. A. Ragle   +2 more
wiley   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1236-1248, June 2026.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source