Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Joakim Klar"'
Publikováno v:
eLife, Vol 12 (2024)
Dravet syndrome (DS) is a devastating early-onset refractory epilepsy syndrome caused by variants in the SCN1A gene. A disturbed GABAergic interneuron function is implicated in the progression to DS but the underlying developmental and pathophysiolog
Externí odkaz:
https://doaj.org/article/cbb8b1e8805a498a9c745ad830a93b20
Autor:
Daniel Eriksson, MD, PhD, David Gyll, MD, Marie Virtanen, MD, Niklas Dahl, MD, PhD, Joakim Klar, PhD, Eva-Lena Stattin, MD, PhD
Publikováno v:
JAAD Case Reports, Vol 31, Iss , Pp 133-136 (2023)
Externí odkaz:
https://doaj.org/article/0a02f400cc9e4b329a3103676566ad64
Autor:
Jens Schuster, Joakim Klar, Ayda Khalfallah, Loora Laan, Jan Hoeber, Ambrin Fatima, Velin Marita Sequeira, Zhe Jin, Sergiy V. Korol, Mikael Huss, Ann Nordgren, Britt Marie Anderlid, Caroline Gallant, Bryndis Birnir, Niklas Dahl
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Mowat-Wilson syndrome (MWS) is a severe neurodevelopmental disorder caused by heterozygous variants in the gene encoding transcription factor ZEB2. Affected individuals present with structural brain abnormalities, speech delay and epilepsy. In mice,
Externí odkaz:
https://doaj.org/article/3367a1ecb0fa455a9d3e6d6550ba3e2c
Autor:
Mats Borjesson, Bodil Svennblad, Emil Hagström, Joakim Klar, Niklas Dahl, Anneli Strömsöe, Eva-Lena Stattin, Angelica Maria Delgado-Vega, Aase Wisten
Publikováno v:
BMJ Open, Vol 12, Iss 5 (2022)
Purpose The rationale behind the SUDden cardiac Death in the Young (SUDDY) cohort was to provide a complete nationwide, high-quality platform with integrated multisource data, for clinical and genetic research on sudden cardiac death (SCD) in the you
Externí odkaz:
https://doaj.org/article/2ba7e4f411264eb7b89dcdaf21455529
Autor:
Serena Fineschi, Joakim Klar, Kristin Ayoola Gustafsson, Kent Jonsson, Bo Karlsson, Niklas Dahl
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Fibromyalgia (FM) is an idiopathic chronic disease characterized by widespread musculoskeletal pain, hyperalgesia and allodynia, often accompanied by fatigue, cognitive dysfunction and other symptoms. Autoimmunity and neuroinflammatory mechanisms hav
Externí odkaz:
https://doaj.org/article/a01fcdb3673c4cae8a9037fb7fce97d1
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102712- (2022)
Dravet syndrome is an early onset devastating epilepsy syndrome usually caused by heterozygous mutations in SCN1A. We generated a human iPSC line (UUIGPi015-A) from dermal fibroblasts of a patient with Dravet syndrome carrying a deletion on chromosom
Externí odkaz:
https://doaj.org/article/e9981e7ae5aa47d592570ad604563ccd
Autor:
Joakim Klar, Helene Engstrand-Lilja, Khurram Maqbool, Jonas Mattisson, Lars Feuk, Niklas Dahl
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-7 (2020)
Abstract Background Oesophageal atresia (OA) is a life-threatening developmental defect characterized by a lost continuity between the upper and lower oesophagus. The most common form is a distal connection between the trachea and the oesophagus, i.e
Externí odkaz:
https://doaj.org/article/1f33fd56f6cd48e2ad8bd96f55b9fafb
Autor:
Jens Schuster, Loora Laan, Joakim Klar, Zhe Jin, Mikael Huss, Sergiy Korol, Feria Hikmet Noraddin, Maria Sobol, Bryndis Birnir, Niklas Dahl
Publikováno v:
Neurobiology of Disease, Vol 132, Iss , Pp - (2019)
Dravet syndrome (DS) is an early onset refractory epilepsy typically caused by de novo heterozygous variants in SCN1A encoding the α-subunit of the neuronal sodium channel Nav1.1. The syndrome is characterized by age-related progression of seizures,
Externí odkaz:
https://doaj.org/article/e1025a1b1221479ead021722ed01dc8d
Autor:
Zafar Ali, Shumaila Zulfiqar, Joakim Klar, Johan Wikström, Farid Ullah, Ayaz Khan, Uzma Abdullah, Shahid Baig, Niklas Dahl
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-6 (2017)
Abstract Background Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutatio
Externí odkaz:
https://doaj.org/article/a8977bb723f9486e8d6e49022b6578a1
Autor:
Eva-Lena Stattin, Petra Henning, Joakim Klar, Emma McDermott, Christina Stecksen-Blicks, Per-Erik Sandström, Therese G. Kellgren, Patrik Rydén, Göran Hallmans, Torsten Lönnerholm, Adam Ameur, Miep H. Helfrich, Fraser P. Coxon, Niklas Dahl, Johan Wikström, Ulf H. Lerner
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)
Abstract Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results in increased bone density. We have studied nine individuals with an intermediate form of ARO, from t
Externí odkaz:
https://doaj.org/article/2ead0ecdd282451bb5f766d6ae982d05