Results 271 to 280 of about 121,621 (353)

Spastic Paraplegia 82 in Two Asian Indian Siblings With PCYT2 Mutations. [PDF]

J Mov Disord
Dash A, Mustafa F, Garg D, Samineni S, Agarwal A, Garg A, Srivastava AK.   +6 more
europepmc   +1 more source

MBOAT7 encephalopathy: Characterizing the neurology and epileptology

Epilepsia, EarlyView.
Abstract Objective Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention‐deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.
Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin‐Tobias Jauss, Tobias Bartolomaeus, Maria Escolar, Geneviève Bernard, Ralitza Gavrilova, Rebecca Ahrens‐Nicklas, Gabrielle Lemire, Kym M. Boycott, Saadet Mercimek‐Andrews, Paolo Prontera, Cinzia Costa, Bojana Rakic, Cornelius F. Boerkoel, Stephanie Huynh, Linda Huh, Elliott Sherr, Emanuela Argilli, Juan Darío Ortigoza‐Escobar, Didac Casas‐Alba, Tania Nunes, David A. Koolen, Konrad Platzer, Marianne S. Khinchi, Elena Gardella, Christina D. Fenger, Rikke S. Møller, Allan Bayat   +28 more
wiley   +1 more source

The Effect of Peripheral Magnetic Stimulation on Functional Mobility and Morphology in Cerebral Palsy with Spastic Diplegia: A Randomized Controlled Trial. [PDF]

Life (Basel)
Klarod K, Sukkho O, Kiatkulanusorn S, Werasirirat P, Wutthithanaphokhin C, Satkunskienė D, Lueang-On S, Muanjai P, Luangpon N.   +8 more
europepmc   +1 more source

Spastic Esophageal Disorders—How Much Muscle Should We Cut?

Digestive Endoscopy, EarlyView.
Siew‐Fung Hau, Hon Chi Yip
wiley   +1 more source

Motor pathway evaluation by transcranial magnetic stimulation in Swedish horses with acquired equine polyneuropathy

Equine Veterinary Journal, EarlyView.
Abstract Background Acquired equine polyneuropathy in Nordic horses (AEP) is the most prevalent equine polyneuropathy in Norway, Sweden, and Finland and is characterised by pelvic limb knuckling due to metatarsophalangeal extension dysfunction.
Anna May, Siv Hanche‐Olsen, Lutz S. Goehring, Kaspar Matiasek, Karin Hultin Jäderlund, Yury Zablotski, Gittan Gröndahl   +6 more
wiley   +1 more source

Findings from transcriptomics and immunohistochemistry indicate an autoimmune disease targeting brainstem inhibitory interneurons in bovine spastic paresis. [PDF]

PLoS One
Krull F, Hosseini S, Bleyer M, Brenig B.
europepmc   +1 more source

Molecular mechanisms of hotspot variants in cytoskeletal β‐actin associated with Baraitser–Winter syndrome

The FEBS Journal, EarlyView.
Variants at position R196 in cytoskeletal β‐actin are the most common variants associated with Baraitser–Winter cerebrofrontofacial syndrome and result in craniofacial anomalies and neurodevelopmental disorders, most likely due to neuronal migration defects. This study explores the molecular mechanisms of p.R196 variants using purified proteins.
Johannes N. Greve, Dietmar J. Manstein
wiley   +1 more source

Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle. [PDF]

Sci Rep
Jacinto JGP, Letko A, Häfliger IM, Akyürek EE, Sacchetto R, Gentile A, Drögemüller C.   +6 more
europepmc   +1 more source