Results 81 to 90 of about 27,985,166 (210)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Integrated multi‐layer transcriptomics reveals a gamma‐aminobutyric acid‐centred molecular state in Tourette syndrome

Clinical and Translational Discovery, Volume 6, Issue 5, October 2026.
Abstract Aims Gamma‐aminobutyric acid (GABA)ergic dysfunction is central to Tourette syndrome (TS), yet evidence linking peripheral signals, upstream regulation, pharmacologic response and striatal cellular context remains fragmented. We investigated whether a GABA‐defined peripheral molecular state in TS could be linked to candidate regulatory signals,
Qingsong Zhao, Fathallah Yasmine, Yanan Peng, Le Liu, Juan Wang, Qian Wang, Jing Tan, Ran Hua, De Wu   +8 more
wiley   +1 more source

The Chiari-I malformation.

, 1991
We have described the important clinical features and aspects of the Chiari-I malformations, with particular emphasis on Chiari-I malformation. Previously thought to be a rare finding with only minor significance, Chiari-I malformation is an important ...
Hendrix, R A, Sclafani, A P, DeDio, Robert M, MD   +2 more
core   +1 more source

Chiari type I and II malformations

South African Journal of Radiology, 2002
No abstract available.
S. Andronikou, C. Welman, E. Kader
openaire   +3 more sources

Autonomic failure in a case of Chiari malformation type I

, 1987
A case of Chiari malformation type I with orthostatic hypotension and sleep apnea leading to convulsive attacks is ...
Lugaresi A., Storza E., Gerardi R., Cortelli P., Zucconi M., Contin M., Cirignotta F.   +6 more
core  

Prenatal findings and postnatal outcomes in cases of closed spinal dysraphism: 10‐year two‐center cohort study

Ultrasound in Obstetrics &Gynecology, Volume 68, Issue 4, Page 518-526, October 2026.
ABSTRACT ObjectiveTo characterize prenatal ultrasound findings in fetuses with prenatally diagnosed closed spinal dysraphism (CSD) and report their postnatal management and functional outcomes at 18 and 36 months. MethodsThis retrospective cohort study included all fetuses with a prenatal diagnosis of CSD assessed between January 2014 and December 2024
Y. Athiel, E. Van den Eede, T. de Saint Denis, E. Blondiaux, F. Dhombres, P. Maurice, A. Dugas, H. Simonnet, L. Guilbaud, C. Garel, H. van der Merwe, M. Aertsen, P. Devloo, R. Devlieger, J. Deprest, J.‐M. Jouannic   +15 more
wiley   +1 more source

Visual, vestibular, and ocular motor changes during nitroglycerin‐triggered vestibular migraine

Headache: The Journal of Head and Face Pain, Volume 66, Issue 9, Page 1991-2005, October 2026.
Plain Language Summary Vestibular migraine (VM) is a common cause of intermittent dizziness, but there have been no studies with provoked (induced) VM used to characterize how the vestibular and ocular (vision) systems interact. We injected 20 patients with VM with nitroglycerin to provoke an attack and used a specialized camera to record their eye ...
Maria Dolores Villar‐Martinez, Francesca Puledda, Caroline Domingos‐Belo, Adolfo M. Bronstein, Peter J. Goadsby   +4 more
wiley   +1 more source

Surgical Management of Chiari Malformation Type I in the Pediatric Patients with Syringomyelia and Related to Klippel-Feil Syndrome: A Case Series and Literature Review

Acta Medica Bulgarica
Chiari type I malformation (CM-1) is a birth defect where the back part of the skull does not develop properly, leading to the formation of a small and shallow space at the back of the head.
Encarnacion-Santos D. A., Chmutin G., Anvardzhonovich I. B., Chmutin E., Arstanbekov B., Kurbonov Sh., Bodanova S., Chaurasia B.   +7 more
doaj   +1 more source

Headache and Chiari-I Malformation

, 1997
The clinical features and pathogenesis of headache associated with Chiari-I malformation and syringomyelia are reviewed from the Katholieke Universiteit Leuven ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

Acute Brainstem Symptoms with Chiari Type 1 Malformation [PDF]

, 2008
Two children who presented with rapidly worsening neurological symptoms attributable to a previously undiagnosed Chiari malformation Type 1 are reported from Children's Hospital, Birmingham ...
J Gordon Millichap
core   +1 more source