Results 241 to 250 of about 55,413 (307)

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT 2‐oxyglutarate dehydrogenase (OGDH) encodes an E1 component of α‐ketoglutarate dehydrogenase complex that plays a pivotal role in the Krebs cycle. Biallelic variants in OGDH have been reported to cause an early‐onset neurodevelopmental and mitochondrial disorder.
Liedewei Van de Vondel, Gyu S. Lee, Jonathan De Winter, Satoshi Matsuzaki, Abigail Sandoval, Juan Felipe Ramirez, Alice Monticelli, Sukyeong Lee, Rita Horvath, Jan de Bleecker, Stephan Züchner, Kenneth M. Humphries, Jonathan Baets, Wan Hee Yoon   +13 more
wiley   +1 more source

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. [PDF]

Mov Disord
Maroofian R, Spoto G, Moualek D, Zaki MS, Biswas A, D'Arco F, Biglari S, Nikuei P, Gleeson JG, Tazir M, Ali Pacha L, Houlden H.   +11 more
europepmc   +1 more source

Molecular Interplay of PARN and Telomerase: Tail Modifiers and Disease Implications

WIREs RNA, Volume 17, Issue 4, July/August 2026.
Schematic representation of the molecular interplay between PARN, telomerase‐associated, and the involvement of p53 in regulating telomere maintenance and genome stability. The top panel shows how normal PARN levels are involved in regulating p53 levels and balanced telomerase activity through their regulatory interaction with TERC and TERRA, thus ...
Sujitha Felicitus, Shalon Suzanne Pinto, Sai Samanvitha Madagundapalli Ramakrishna, Dechamma Pandyanada Nanjappa, Gunimala Chakraborty, Anirban Chakraborty   +5 more
wiley   +1 more source

Novel SQSTM1 (c.838G>T) Mutation Identified in Two Unrelated Cases of Cerebellar Ataxia and Gaze Palsy. [PDF]

Adv Biomed Res
Hosseini Moshkenani N, Momeni A, Bahreini A.   +2 more
europepmc   +1 more source

Rapid generation of prion disease models using AAV‐delivered PrP variants in knockout mice

Brain Pathology, Volume 36, Issue 4, July 2026.
We developed a rapid AAV‐based system to generate prion disease models in weeks rather than months. Following systemic AAV9P31 delivery of modified PrP to knockout mice, we achieved brain‐wide expression and successful propagation of both classical (RML) and atypical (GSS‐A117V) prion strains.
Maitena San‐Juan‐Ansoleaga, Eva Fernández‐Muñoz, Jorge M. Charco, Enric Vidal, Diego Herrero‐Martínez, Josu Galarza‐Ahumada, Cristina Sampedro‐Torres‐Quevedo, Samanta Giler, Mariví Geijo, Gloria González‐Aseguinolaza, Hasier Eraña, Joaquín Castilla   +11 more
wiley   +1 more source

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics. [PDF]

Eur J Neurol
Theuriet J, Paulet L, Acket B, Ory-Magne F, Belbachir H, Chanson JB, Bouhour F, Laurencin C, Froment Tilikete C, Lardeux P, Clement G, Hocquel A, Renaud M, Bonnet C, Marelli C, Weber S, Comet C, Azulay JP, Fluchère F, Coarelli G, Heinzmann A, Ewenczyk C, Verny C, Guillet-Pichon V, Guyant-Marechal L, Desjardins C, Riou A, Degos B, Mercier S, Goizet C, Degoutin M, Angelini C, Laurens B, Degardin A, Carrière N, Le Guyader G, Schneider V, Dupont G, Thomas Q, Merindol M, Besse-Pinot E, Méneret A, Roze E, Durr A, Thobois S, Anheim M, Wirth T, Pegat A.   +47 more
europepmc   +1 more source

The L108I polymorphism in mouse prion protein drives spontaneous disease and enhances transmission of atypical and classical prion strains

Brain Pathology, Volume 36, Issue 4, July 2026.
A single amino acid change (L108I) combined with PrP overexpression drives spontaneous atypical prion formation in mice, enabling also efficient propagation of diverse prion strains. This model allows studying how spontaneous prion diseases arise and provides powerful tools for investigating strain emergence, transmission barriers, and mechanisms ...
Hasier Eraña, Enric Vidal, Natalia Fernández‐Borges, Jorge M. Charco, Carlos M. Díaz‐Domínguez, Cristina Sampedro‐Torres‐Quevedo, Josu Galarza‐Ahumada, Eva Fernández‐Muñoz, Maitena San‐Juan‐Ansoleaga, Miguel Ángel Pérez‐Castro, Nuno Gonçalves‐Anjo, Patricia Piñeiro, Samanta Giler, Nora González‐Martín, Nuria L. Lorenzo, Africa Manero‐Azua, Guiomar Perez de Nanclares, Mariví Geijo, Manuel A. Sánchez‐Martín, Jesús R. Requena, Joaquín Castilla   +20 more
wiley   +1 more source

"Mini Molar Tooth" Sign in POLR3B-Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy. [PDF]

Mov Disord Clin Pract
Marsili L, Kauffman MA, Talavera de la Esperanza B, Yu Z, Gilbert DL, Espay AJ.   +5 more
europepmc   +1 more source

Cone beam computed tomographic myelography in horses with cervical vertebral compressive myelopathy

Equine Veterinary Journal, Volume 58, Issue 4, Page 1049-1060, July 2026.
Abstract Background While computed tomographic (CT) myelography is increasingly available and has been evaluated in alive horses, objective criteria for diagnosing cervical vertebral compressive myelopathy (CVCM) are lacking. Objectives To establish morphometric dimensions of the cervical vertebral canal and spinal cords from horses with CVCM and ...
Sonia González‐Medina, Myra F. Barrett, Tawfik A. Aboellail, Bradley B. Nelson, Yvette S. Nout‐Lomas   +4 more
wiley   +1 more source

Acupuncture for primary autoimmune cerebellar ataxia: A CARE-compliant case report with two-year follow-up. [PDF]

Medicine (Baltimore)
Xu Z, Xu F, Li G, Wu L, Guo H, Wang S.
europepmc   +1 more source