Results 221 to 230 of about 53,170 (302)

Sex-Dependent Effects of CSF1R-Mediated Myeloid Cell Depletion in a Mouse Model of Multiple System Atrophy. [PDF]

Eur J Neurosci
Battis K, Mante M, Naumann I, Andert M, Kim HY, Xiang W, Rissman RA, Winkler J, Hoffmann A.   +8 more
europepmc   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Beyond <i>SGCE</i>: expanding the clinical and molecular spectrum of <i>KCTD17</i>- and <i>KCNN2</i>-related myoclonus-dystonia. [PDF]

Front Neurol
Krygier M, Sitek EJ, Chylińska M, Ziętkiewicz S, Zawadzka M, Dulski J, Schinwelski M, Kostrzewa G, Wierzba J, Płoski R, Zech M, Mazurkiewicz-Bełdzińska M.   +11 more
europepmc   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

A unique case of C2 osteochondroma mimicking cervical dystonia. [PDF]

Surg Neurol Int
Musali SR, Kandukuri S, Chandra M, Kola S, Nandury EC, Prabakaran A, Mridula RK, Borgohain R, Vijayasaradhi M, Alugolu R.   +9 more
europepmc   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

An 18-fluorodeoxyglucose-PET study in <i>SGCE</i> positive and negative myoclonus-dystonia. [PDF]

Brain Commun
Timmers ER, Dijkhuis HCJ, Marapin RS, de Jong BM, Peretti DE, Dalenberg JR, Tijssen MAJ.   +6 more
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Cesarean Delivery in a Patient With Segawa Syndrome (Dopamine-Responsive Dystonia) Under Epidural Anesthesia: A Case Report. [PDF]

Cureus
Choi E, Yi H, Min J, Lee D.
europepmc   +1 more source

Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry. Method This was a mixed‐methods study consisting of a systematic literature search, a survey, and a real‐time Delphi procedure to achieve consensus on domains and ...
Larissa R. Heideman, Nicole I. Wolf, Moritz Thiel, Jolanda H. Schieving, Chris De Kruiff, Suzanne van den Bos, Eva Van Heeringen‐Broekhuizen, J. Jasper Deuring, Annemieke I. Buizer, Laura A. Van De Pol   +9 more
wiley   +1 more source