Results 91 to 100 of about 9,800 (213)

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11 [PDF]

, 2016
Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects ...
Ashworth, M, Baksi, AJ, Barton, PJR, Buchan, RJ, Cook, SA, Daubeney, P, Homfray, T, John, S, McKee, S, Murday, V, Prasad, S, Rea, G, Roses-Noguer, F, Stewart, FJ, Taylor, RW, Till, J, Walsh, R, Ware, JS, Wilk, A, Wilkinson, S   +19 more
core   +1 more source

Utility of Far‐Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy

Muscle &Nerve, Volume 73, Issue 6, Page 1089-1095, June 2026.
ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluated the utility of ulnar nerve FFP as a robust research biomarker of lower motor neuron degeneration in spinal muscular atrophy (SMA).
Aicee Dawn Calma, Nathan Pavey, Cláudia Santos Silva, Yukiko Tsuji, Amirul Ab Ghapar, Katrina Morris, Matthew C. Kiernan, Michelle A. Farrar, Parvathi Menon, Steve Vucic   +9 more
wiley   +1 more source

Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease [PDF]

, 2010
Objective To report the rare but distinct clinical and neuropathological phenotype of non-familial, rapidly progressive parkinsonism and dementia associated with frontotemporal lobar degeneration with motor neuron disease (FTLD-MND).
de Courten-Myers, Gabrielle M., Espay, Alberto J., Ghetti, Bernardino, Houghton, David J., Litvan, Irene, Murrell, Jill R., Spina, Salvatore   +6 more
core   +1 more source

Heat Stress and Placental Abruption: A Space–Time Stratified Case‐Crossover Study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 7, Page 1405-1413, June 2026.
ABSTRACT Objective To examine whether heat stress, measured by wet bulb globe temperature (WBGT), a comprehensive heat stress index is associated with placental abruption within 7 days. Design A space–time‐stratified case‐crossover design. Setting All 11 regions in Japan during the warm season (June–September) from 2011 to 2020.
Shuhei Terada, Hisaaki Nishimura, Naoyuki Miyasaka, Takeo Fujiwara   +3 more
wiley   +1 more source

Paralisia bulbar progressiva juvenil doença de Fazio-Londe: relato de caso Progressive bulbar palsy (Fazio-Londe disease): case report

Arquivos de Neuro-Psiquiatria, 2002
A paralisia bulbar progressiva, também denominada doença de Fazio-Londe, caracteriza-se pelo acometimento degenerativo progressivo de nervos cranianos bulbares em crianças.
Bianca Helena Brum Batista, Andrea Garcia de Almeida, Magda Lahorgue Nunes, Paulo Márcio Condessa Pitrez, João Arthur Ehlers   +4 more
doaj   +1 more source

Safety and feasibility of Lin- cells administration to ALS patients : a novel view on humoral factors and miRNA profiles [PDF]

, 2018
Therapeutic options for amyotrophic lateral sclerosis (ALS) are still limited. Great hopes, however, are placed in growth factors that show neuroprotective abilities (e.g., nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), and vascular
Baumert, Bartłomiej, Dulak, Józef, Gołąb-Janowska, Monika, Gródecka-Szwajkiewicz, Dorota, Kawa, Miłosz P., Kotowski, Maciej, Litwińska, Zofia, Machaliński, Bogusław, Nowacki, Przemysław, Peregud-Pogorzelski, Jarosław, Pius-Sadowska, Ewa, Sobuś, Anna, Stępniewski, Jacek   +12 more
core   +2 more sources

Guillain–Barré Syndrome After Malaria: A Case Report of a 7‐Year‐Old Child With Asymmetric Onset of Acute Motor Axonal Neuropathy

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT This case highlights that acute motor axonal neuropathy can present with asymmetric, relapsing weakness in children. In malaria‐endemic and resource‐limited settings, clinicians should consider atypical Guillain–Barré variants early, as timely recognition and treatment can significantly improve outcomes despite diagnostic and systemic ...
Muath Ibrahim Mohammed Abusaada, Mustafa Mohamed Ibrahim Ali, Muotaman Mohammed Abdalla Adam, Mohammed Hishameldeen Omer Ali, Mohamed Abdallah Mohamed Baraka, Amjad Ali Mohamedelhassan Bakheit, Khabab Abbasher Hussien Mohamed Ahmed, Isameldin Yousif Khidir Mohmed   +7 more
wiley   +1 more source

IgLON5-Associated Encephalitis With Atypical Brain Magnetic Resonance Imaging and Cerebrospinal Fluid Changes

Frontiers in Neurology, 2018
IgLON5-associated encephalitis is a syndrome with different clinical presentations consisting of sleep dysfunction, bulbar dysfunction, chorea, and progressive supranuclear palsy-like symptoms whereas dysautonomy and cognitive decline usually appear in ...
Massimiliano Montagna, Massimiliano Montagna, Rizvana Amir, Ilse De Volder, Ilse De Volder, Martin Lammens, Jef Huyskens, Barbara Willekens, Barbara Willekens   +8 more
doaj   +1 more source

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Acute Bilateral Ophthalmoplegias [PDF]

, 1977
Bilateral ophthalmoplegia is that condition of weakness or paralysis involving one or more ocular muscles in each eye. Its sudden appearance due to an acute ocular myopathy is indeed unusual. Swash reported a single patient with acute necrotizing orbital
Selhorst, John B.
core   +1 more source