Results 71 to 80 of about 3,309 (191)

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind. [PDF]

, 2020
The brain is the physical organ of the mind but efforts to understand mental illness within a neurobiological context have hitherto been unavailing. Mental disorders (anxiety, depression, bipolar disorder, and schizophrenia) affect about one fifth of the
Cox, Timothy M
core   +1 more source

Neuroradiological findings in GM2 gangliosidosis variant B1

Journal of Pediatric Neurosciences, 2011
GM2 gangliosidosis variant B1 is a very rare lysosomal disorder. As per our knowledge, to date, only one article depicting the magnetic resonance imaging (MRI) findings of GM2 gangliosidosis variant B1 is available in the literature. We are the first to describe the neuroradiological findings in an Indian patient diagnosed with GM2 gangliosidosis ...
Bano, Shahina, Prasad, Akhila, Yadav, Sachchida Nand, Chaudhary, Vikas, Garga, Umesh Chandra   +4 more
openaire   +2 more sources

Language impairment is associated with faster progression in progressive supranuclear palsy‐Richardson syndrome

Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.
Abstract INTRODUCTION Cognitive impairment is common but often overlooked due to motor symptoms in progressive supranuclear palsy‐Richardson syndrome (PSP‐RS). This study investigates whether cognitive deficits predict disease progression in PSP‐RS. METHODS A total of 146 PSP‐RS from the Tilavonemab trial were evaluated at baseline and over 52 weeks ...
Indira Garcia‐Cordero, Juan Camilo Vargas‐Gonzalez, Mohsen Hadian, Ece Bayram, Federico Rodriguez‐Porcel, Blas Couto, Jay Iyer, Lawrence I. Golbe, Christopher D. Stephen, Alexander Pantelyat, Marian L. Dale, Nikolaus McFarland, Tao Xie, Matthew Swan, Kyurim Kang, Douglas Gunzler, Anne‐Marie Wills, Adam Boxer, Irene Litvan, Anthony Lang, Maria Carmela Tartaglia   +20 more
wiley   +1 more source

Transgenic animals - review paper [PDF]

, 2006
Developments in the biological sciences in the last years have changed mankind's ability to manipulate the genetics, cell biology and physiology of biological organisms. These techniques, collectively termed biotechnology, create the opportunity for
Blundell, Renald
core  

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts

Journal of Lipid Research, 1998
The degradation of blood group glycolipid A-6-2 (GalNAc(α1→3)[Fucα1→2]Gal(β1→4)GlcNAc(β1→3)Gal (β1→4)Glc(β1→1′)Cer, IV2-α-fucosyl-IV3-α-N-acetylgalactosaminylneolactotetraosylceramide), tritium-labeled in its ceramide moiety, was studied in situ, in skin
Befekadu Asfaw, Detlev Schindler, Jana Ledvinová, Bohuslav Černý, František Šmíd, Ernst Conzelmann   +5 more
doaj   +1 more source

Late Onset Tay-Sachs Disease Presenting as a Brief Psychotic Disorder with Catatonia: A Case Report and Review of the Literature [PDF]

, 2012
This is a case report of late onset Tay-Sachs Disease diagnosed in a 14-year-old male non-Jewish adolescent who presented in a psychotic and catatonic state. The objective is to emphasize that Tay-Sachs disease can present with psychiatric symptoms, with
Saleh, Osama, M.D.
core   +1 more source

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series) [PDF]

, 2014
How to Cite This Article: Karimzadeh P, Jafari N, Nejad Biglari H, Jabbeh Dari S, Ahmad Abadi F, Alaee MR, Nemati H, Saket S,Tonekaboni SH, Taghdiri MM, Ghofrani M. GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (
AHMAD ABADI, Farzad, ALAEE, Mohammad-Reza, GHOFRANI, Mohammad, JABBEH DARI, Sayena, JAFARI, Narjes, KARIMZADEH, Parvaneh, NEJAD BIGLARI, Habibeh, NEMATI, Hamid, SAKET, Sasan, TAGHDIRI, Mohammad-Mahdi, TONEKABONI, Seyed Hassan   +10 more
core   +2 more sources

The cerebellum in epilepsy

Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder, Rebecca Kerestes, Puneet Opal, Maria Marchese, Orrin Devinsky   +4 more
wiley   +1 more source