Results 91 to 100 of about 7,103 (220)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Unexpected gender differences in progressive supranuclear palsy reveal efficacy for davunetide in women

Translational Psychiatry, 2023
Progressive supranuclear palsy (PSP) is a pure tauopathy, implicating davunetide, enhancing Tau-microtubule interaction, as an ideal drug candidate. However, pooling patient data irrespective of sex concluded no efficacy.
Illana Gozes, Guy Shapira, Alexandra Lobyntseva, Noam Shomron   +3 more
doaj   +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

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia

Frontiers in Pediatrics
BackgroundBrown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3.
Amal Y. Kentab, Amal Y. Kentab, Yara Alsalloum, Mai Labani, Abrar Hudairi, Muddathir H. Hamad, Dima Z. Jamjoom, Ali H. Alwadei, Ali H. Alwadei, Reem M. Alhammad, Fahad A. Bashiri, Fahad A. Bashiri   +11 more
doaj   +1 more source

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

Late Presenting Central Pontine Myelinolysis Post- tonsillectomy in a Child: Case Report [PDF]

Pediatric Sciences Journal
Central pontine myelinolysis (CPM) is a notorious grave complication of rapid correction of hyponatremia. CPM is a noninflammatory demyelination. It presents clinically with variable degrees of loss of coordination, unconsciousness, blurred vision ...
Magd Ahmed Kotb, Menat-allah Mahmoud Elzabet, Walaa Elnaggar   +2 more
doaj   +1 more source

Dominantly Inherited Amyotrophic Lateral Sclerosis (Motor Neuron Disease) [PDF]

, 1977
The term amyotrophic lateral sclerosis was first introduced by Charcot to describe cases with mixed upper and lower motor neuron signs without sensory impairment. Later the syndromes of progressive bulbar palsy (PBP) and progressive muscular atrophy (PMA)
Myer, Edwin C., Nance, Walter E., Wilkins, Louise E., Winter, Robin M.   +3 more
core   +1 more source

Role of PET and SPECT in the study of Amyotrophic Lateral Sclerosis [PDF]

, 2014
Amyotrophic lateral sclerosis has been defined as a "heterogeneous group of neurodegenerative syndromes characterized by progressive muscle paralysis caused by the degeneration of motor neurons allocated in primary motor cortex, brainstem, and spinal ...
Cistaro, A, Cuccurullo, V, Mansi, L, Pagani, M, Quartuccio, N, Valentini, Mc   +5 more
core   +4 more sources

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

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, Volume 68, Issue 5, Page 696-705, May 2026.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source