Results 51 to 60 of about 654 (133)

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

Discovery of a CLN7 model of Batten disease in non-human primates

Neurobiology of Disease, 2018
We have identified a natural Japanese macaque model of the childhood neurodegenerative disorder neuronal ceroid lipofuscinosis, commonly known as Batten Disease, caused by a homozygous frameshift mutation in the CLN7 gene (CLN7−/−).
Jodi L. McBride, Martha Neuringer, Betsy Ferguson, Steven G. Kohama, Ian J. Tagge, Robert C. Zweig, Laurie M. Renner, Trevor J. McGill, Jonathan Stoddard, Samuel Peterson, Weiping Su, Larry S. Sherman, Jacqueline S. Domire, Rebecca M. Ducore, Lois M. Colgin, Anne D. Lewis   +15 more
doaj   +1 more source

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Clinical Genetics, Volume 107, Issue 1, Page 44-55, January 2025.
Mutations in ARSG are a very rare cause of Usher disease, assigned as “Usher type IV.” We identified 13 new subjects with mutations in ARSG, provide a clinical description of the subjects, and characterized the newly identified variants. Abstract Usher syndrome (USH) is the most common cause of deafblindness.
Miriam Bauwens, Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov, Sebastian Held, Sascha Vermeer, Elke Loos, Julie Jacob, Ingele Casteels, Julie Désir, Fanny Depasse, Stijn Van de Sompele, Mattias Van Heetvelde, Marieke De Bruyne, Camille Andrieu, Christel Condroyer, Aline Antonio, Robert B. Hufnagel, Ana Luísa Carvalho, João Pedro Marques, Christina Zeitz, Elfride De Baere, Markus Damme   +24 more
wiley   +1 more source

Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel

Molecular Genetics &Genomic Medicine, Volume 12, Issue 12, December 2024.
A gene panel, supplemented by deep intronic variant screening, genetically resolved 56% of South African inherited retinal disease patients, including 49% of indigenous Africans. This approach was successfully applied in a low‐resource setting, and contributes knowledge from the understudied, genetically diverse African population.
Nicole Midgley, George Rebello, Lara K. Holtes, Raj Ramesar, Lisa Roberts   +4 more
wiley   +1 more source

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

JIMD Reports, 2019
Background Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the CLN ...
Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews   +8 more
doaj   +1 more source

Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant

Molecular Genetics and Metabolism Reports, 2019
Two littermate German Shorthaired Pointers, a male and a female, were adopted as puppies from an animal shelter. Both puppies developed normally until approximately 11 months of age when the male began to exhibit neurological signs including ataxia ...
Juyuan Guo, Gary S. Johnson, James Cook, Olivia K. Harris, Tendai Mhlanga-Mutangadura, Robert D. Schnabel, Cheryl A. Jensen, Martin L. Katz   +7 more
doaj   +1 more source

Unlocking the Potential of Chemically Modified Nucleic Acid Therapeutics

Advanced Therapeutics, Volume 7, Issue 11, November 2024.
The advancements in nucleic acid therapeutics are highlighted, focusing on chemical modifications and bioconjugation techniques that enhance stability, binding affinity, and targeted delivery. Recent literature and clinical applications emphasize the role of backbone, ribose, base modifications, and bioconjugation strategies like N‐acetylgalactosamine (
Jingjing Gao, Bhingaradiya Nutan, Dorra Gargouri, Nishkal D. Pisal, Vy Do, Muhammad Zubair, Hommam Alanzi, Hiqui Wang, Dongtak Lee, Nitin Joshi, Aman Ullah   +10 more
wiley   +1 more source

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.

PLoS ONE, 2018
Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence.
Johannes Birtel, Martin Gliem, Elisabeth Mangold, Philipp L Müller, Frank G Holz, Christine Neuhaus, Steffen Lenzner, Diana Zahnleiter, Christian Betz, Tobias Eisenberger, Hanno J Bolz, Peter Charbel Issa   +11 more
doaj   +1 more source

A proteomic atlas of glypican‐3 interacting partners: Identification of alpha‐fetoprotein and other extracellular proteins as potential immunotherapy targets in liver cancer

Proteoglycan Research, Volume 2, Issue 4, October-December 2024.
Abstract Antibody and cell‐based therapeutics targeting cell surface receptors have emerged as a major class of immune therapeutics for treating cancer. However, the number of cell surface targets for cancer immunotherapy remains limited. Glypican‐3 (GPC3) is a cell surface proteoglycan and an oncofetal antigen.
Yi‐Fan Zhang, Shaoli Lin, Zhen Xiao, Mitchell Ho   +3 more
wiley   +1 more source

Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity

Clinical Genetics, Volume 106, Issue 4, Page 505-511, October 2024.
We describe three patients with biallelic SUMF1 variants, reduced sulfatase enzyme activity, and retinal dystrophy. Phenotypes range from mild systemic manifestations to isolated ocular involvement, representing the mildest documented phenotypes associated with multiple sulfatase deficiency.
Siying Lin, Anthony G. Robson, Dorothy A. Thompson, Karolina M. Stepien, Robin Lachmann, Emma Footitt, Ola Czyz, Shwetha Chandrasekhar, Elena Schiff, Christos Iosifidis, Graeme C. Black, Michel Michaelides, Omar A. Mahroo, Gavin Arno, Andrew R. Webster   +14 more
wiley   +1 more source