Results 61 to 70 of about 16,752 (185)

Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease

Clinical Genetics, EarlyView.
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth, Andrea Maier, Larissa Mattern, Carol Saunders, Helen McCullagh, Katrin Õunap, Saskia B. Wortmann, Andre Reis, Lei Zhang, Claes M. Gustafsson, Robert McFarland, Robert W. Taylor   +20 more
wiley   +1 more source

Dystonia and Ataxia Associated with Brain Iron Accumulation: Expanding the Phenotype of NPTX1‐Spinocerebellar Ataxia 50

Movement Disorders, EarlyView.
Gianmarco Dalla Zanna, Alessandra Tessa, Salvatore Rossi, Antonio Funcis, Francesca Brambati, Anna Modoni, Rosellina Russo, Paolo Calabresi, Filippo Maria Santorelli, Gabriella Silvestri   +9 more
wiley   +1 more source

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

Clinical Genetics, EarlyView.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel, Rikhil Makwana, Elaine Marchi, Ziyi Fan, Erin Falsey, Beatriz Menendez, Philip Giampietro, Ingrid M. Wentzensen, Tzung‐Chien Hsieh, Shu‐ou Shan, Gholson J. Lyon   +10 more
wiley   +1 more source

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

Clinical Genetics, EarlyView.
Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Reihaneh Khorasanian, Mariasavina Severino, Morteza Doustmohammadi, Francesca Madia, Siddharth Srivastava, Aisling Quinlan, Dario Paladini, Federico Zara, Marcello Scala   +11 more
wiley   +1 more source

Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice

Epilepsia, EarlyView.
Abstract Familial adult myoclonus epilepsy (FAME) is a genetic neurological disorder characterized by cortical myoclonus and epileptic seizures with clinical features that overlap with other movement disorders and epileptic syndromes, particularly essential tremor (ET), progressive myoclonic epilepsy (PME), and juvenile myoclonic epilepsy (JME).
Yitao Lu, Yi Ge, Ruyi Wang, Yang Zheng, Jiping Zhou, Zhongjin Wang, Chunhong Shen, Shan Wang, Lingli Hu, Bo Wang, Zhidong Cen, Wei Luo, Meiping Ding, Shuang Wang, Yao Ding   +14 more
wiley   +1 more source

Fatal spinal cord compression in a horse with chronic actinobacterial cranial nuchal bursitis

Equine Veterinary Education, EarlyView.
Summary A 14‐year‐old warmblood gelding was managed for waxing and waning cranial nuchal bursitis for 2 years. Intensive medical and surgical management was not curative, and the patient was subjected to euthanasia after becoming acutely recumbent. Ante‐mortem and post‐mortem next generation sequencing of bursal tissue and post‐mortem conventional PCR ...
H. Mesch, C. Frank, J. B. Daniels, E. Acutt, E. Contino   +4 more
wiley   +1 more source

The prevalence of strabismus types in strabismic Iranian patients

Clinical Optometry, 2018
Masoud Khorrami-Nejad,1 Mohamad Reza Akbari,2 Bahram Khosravi1 1Department of Optometry, Faculty of Rehabilitation, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Eye Research Center, Farabi Eye Hospital, Tehran University of Medical ...
Khorrami-Nejad M, Akbari MR, Khosravi B
doaj  

Borna disease virus infection: Retrospective case series of five horses and two donkeys in Switzerland

Equine Veterinary Education, EarlyView.
Summary Borna disease is an acute to subacute, rarely chronic non‐purulent meningoencephaylomyelitis affecting mainly horses and sheep. This case series describes the clinical signs, diagnosis, treatment, outcome and post‐mortem findings of five horses and two donkeys with this condition. The equids affected were geldings or mares of various breeds and
I. L. Piotrowski, M. Hilbe, H. K. Junge
wiley   +1 more source

Pregabalin contributes to increased recovery time from isoflurane anaesthesia for magnetic resonance imaging in horses

Equine Veterinary Journal, EarlyView.
Abstract Background Pregabalin reduces excitatory neurotransmitter release and is used for anxiolysis in humans, cats, and horses. The effects of pregabalin on equine recovery following isoflurane anaesthesia are unknown. Objectives To determine if pre‐anaesthetic oral pregabalin influences recovery time and/or quality from isoflurane anaesthesia in ...
Abigail Blanton, Kati G. Glass, Jeanette Bayer, Courtney Baetge, Ryota Watanabe, Sarah N. Sampson, Mauricio Lépiz, Kara Moreno, Keila K. Ida   +8 more
wiley   +1 more source

Evaluating the outcomes of pluripotent stem‐cell‐derived photoreceptor transplantation in retinal repair

The FEBS Journal, EarlyView.
Transplantation of stem cell‐derived photoreceptors in retinal repair. We summarize methods for differentiating stem cells and describe surgical techniques for transplanting photoreceptor precursors to restore visual function (A). The effectiveness of these techniques is assessed with behavioral (B) and in vitro assays (C) using mouse models that mimic
Darin Zerti, Birthe Dorgau, Evelyne Sernagor, Lyle Armstrong, Majlinda Lako, Gerrit Hilgen   +5 more
wiley   +1 more source