Results 111 to 120 of about 71,528 (269)

Rapid Response to Trametinib Combined With Chemotherapy for Infant BRAF‐Fused Chiasmatic Glioma

Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.
ABSTRACT Infants, less than 1 year, with chiasmatic gliomas (ICG) present a major therapeutic challenge due to large tumor size, decreased vision, rapid progression, and poor response to vincristine/carboplatin chemotherapy. The majority have a BRAF fusion, which may respond to downstream MEK inhibitors but response time is slow. There are no safety or
Helen Toledano, Alexander Yelak, Walid Kaadan, Shlomo Caduri, Rivka Friedland, Orli Michaeli, Gad Dotan, Osnat Konen   +7 more
wiley   +1 more source

Effects of prolonged caloric stimulation upon oculomotor, vestibulospinal, and segmental spinal activity [PDF]

Prolonged hot or cold stimulation effects on eye movements, vestibulospinal, and segmental spinal activities in ...
Ades, H. W., Gernandt, B. E., Igarashi, M.   +2 more
core   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1261-1266, June 2026.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Stratification of patients with Menière’s disease based on eye movement videos recorded from the beginning of vertigo attacks and contrast-enhanced MRI findings

Frontiers in Neurology
PurposeDiagnosis of Menière’s disease (MD) relies on subjective factors and the patients diagnosed with MD may have heterogeneous pathophysiologies. This study aims to stratify MD patients using two objective data, nystagmus videos and contrast-enhanced ...
Yuya Ueno, Takao Imai, Kayoko Higashi-Shingai, Yumi Ohta, Takashi Sato, Takefumi Kamakura, Yoshiyuki Ozono, Hidenori Inohara   +7 more
doaj   +1 more source

Vestibular reactions in patients during occlusion form of chorioependymitis [PDF]

A change in intracranial pressure during chorioependymitis is discussed. The inflammatory process in the choroid plexi and walls of the cerebral ventricles is described.
Arifdzhanov, B. K., Ladyzhenskaya, E. A.
core   +1 more source

Biallelic Nonsense Variants in NEFL May Cause a Non‐Length‐Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies

Journal of the Peripheral Nervous System, Volume 31, Issue 2, June 2026.
ABSTRACT Background and Aims Pathogenic variants in NEFL, the gene that encodes the light polypeptide subunit of neurofilaments, are an uncommon cause of autosomal recessive Charcot‐Marie‐Tooth (CMT) disease. In this study, we describe the clinical and electrophysiological features of two families with early‐onset CMT carrying nonsense variants in the ...
Marcus Vinícius Vieira da Silva Gomes, Pedro José Tomaselli, Wilson Marques Jr   +2 more
wiley   +1 more source

Otitis in pet guinea pigs: Causes, clinical signs, treatment and outcomes

Veterinary Record, Volume 198, Issue 9, Page e385-e395, 2/9 May 2026.
Abstract Background Otitis is a major disease impacting both pet guinea pigs and laboratory guinea pigs that are used as models in human otological studies. Methods Medical records from two veterinary clinics were retrospectively reviewed to identify guinea pigs diagnosed with computed tomography (CT)‐confirmed otitis between 2014 and 2023.
Patricia Muffat‐es‐Jacques, Mathilde Charrasse, Paul Raymond, Minh Huynh, Thomas Coutant, Charly Pignon   +5 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Influence of labyrinth orientation relative to gravity on responses elicited by stimulation of the horizontal semicircular canals [PDF]

Gravity labyrinth orientation influence on responses from stimulation of horizontal semicircular ...
Correia, M. J., Guedry, F. E., Jr.
core   +1 more source

UNERTAN SYNDROME: A CASE SERIES DEMONSTRATING HUMAN DEVOLUTION [PDF]

, 2007
A large family with six individuals exhibiting the Unertan syndrome (UTS)was identified residing in southern Turkey. All of the individuals had mental impairments and walked on all four extremities.
Karaca, Dr. Sibel, Tan, Dr. Meliha, Tan, Prof. Dr. Uner   +2 more
core