Abnormally accumulated GM2 ganglioside contributes to skeletal deformity in Tay-Sachs mice.

Autor: Demir SA; Izmir Institute of Technology, IYTEDEHAM, Urla, Izmir, Turkey., Seyrantepe V; Izmir Institute of Technology, IYTEDEHAM, Urla, Izmir, Turkey. volkanseyrantepe@iyte.edu.tr.; Department of Molecular Biology and Genetics, Izmir Institute of Technology, Urla, Izmir, Turkey. volkanseyrantepe@iyte.edu.tr.

Publikováno v: Journal of molecular medicine (Berlin, Germany) [J Mol Med (Berl)] 2024 Dec; Vol. 102 (12), pp. 1517-1526. Date of Electronic Publication: 2024 Nov 08.

Real-time ultrasound-guided segmental bronchoscopic insufflation in a Tay-Sachs patient with atelectasis.

Autor: Šapina M; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia.; Faculty of Dental Medicine and Health Osijek, Osijek, Croatia., Olujic B; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Nađ T; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Vinkovic H; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Dupan ZK; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Hamidović N; University Hospital Center Osijek, Osijek, Croatia., Damašek M; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Milas K; University Hospital Center Osijek, Osijek, Croatia., Zubčić Ž; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Erić I; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia.

Publikováno v: Pediatric pulmonology [Pediatr Pulmonol] 2024 Jun; Vol. 59 (6), pp. 1786-1788. Date of Electronic Publication: 2024 Mar 07.

Carpe DM.

Autor: SALAZAR, DAVID (AUTHOR)

Publikováno v: Fast Company. Spring2024, Issue 262, p48-50. 3p. 1 Cartoon or Caricature.

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.

Autor: Májovská J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Nestrašil I; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Ahmed A; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Bondy MT; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Klempíř J; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Jahnová H; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Schneider SA; Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany., Horáková D; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Krásenský J; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Ješina P; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Vaneckova M; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Nascene DR; Department of Neuroradiology, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Whitley CB; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Gene Therapy and Diagnostic Laboratory, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Department of Experimental and Clinical Pharmacology, University of Minnesota, College of Pharmacy, Minneapolis, Minnesota, USA., Jarnes JR; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Department of Experimental and Clinical Pharmacology, University of Minnesota, College of Pharmacy, Minneapolis, Minnesota, USA., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Dušek P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 327-339. Date of Electronic Publication: 2023 Dec 19.

Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.

Autor: Fullam S; Department of Neurology, Tallaght University Hospital, Dublin, Ireland., Togher Z; Department of Neurology, Tallaght University Hospital, Dublin, Ireland., Power A; Department of Neurology, Cork University Hospital, Cork, Ireland., Kennelly L; Department of Neurology, St Vincent's University Hospital, Dublin, Ireland., McHugh JC; Department of Clinical Neurophysiology, Tallaght University Hospital, Dublin, Ireland., O'Dowd S; Department of Neurology, Tallaght University Hospital, Dublin, Ireland.; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland., Tubridy N; Department of Neurology, St Vincent's University Hospital, Dublin, Ireland., Hardiman O; Department of Neurology, Beaumont Hospital, Dublin, Ireland., Costigan D; Department of Clinical Neurophysiology, Mater Misericordiae University Hospital, Dublin, Ireland., Ryan A; Department of Neurology, Cork University Hospital, Cork, Ireland., Lefter S; Department of Neurology, Beaumont Hospital, Dublin, Ireland., Connolly S; Department of Clinical Neurophysiology, St Vincent's University Hospital, Dublin, Ireland., Murphy SM; Department of Neurology, Tallaght University Hospital, Dublin, Ireland.; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.

Publikováno v: European journal of neurology [Eur J Neurol] 2024 Jan; Vol. 31 (1), pp. e16069. Date of Electronic Publication: 2023 Sep 27.