Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Autor: Park J; Department of General Paediatrics, University of Münster, 48149, Münster, Germany. Julien.Park@ukmuenster.de., Bremova-Ertl T; Department of Neurology, University Hospital Bern (Inselspital), Bern, Switzerland., Brands M; Department of Paediatric Metabolic Disease, Amsterdam University Medical Center, Amsterdam, Netherlands., Foltan T; Department of Pediatric Neurology, National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovak Republic., Gautschi M; Division of Paediatric Endocrinology, Diabetology and Metabolism, Department of Paediatrics, and Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gissen P; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK., Hahn A; Department of Child Neurology, Justus Liebig University, Giessen, Germany., Jones S; Willink Unit, Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, Manchester, UK., Arash-Kaps L; SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim, Germany., Kolnikova M; Department of Pediatric Neurology, National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovak Republic., Patterson M; Departments of Neurology, Pediatrics and Clinical Genomics, Mayo Clinic Children's Center, Rochester, MN, USA., Perlman S; Department of Neurology, University of California, Los Angeles, CA, USA., Ramaswami U; Lysosomal Storage Disorder Unit, Royal Free London NHS Foundation Trust, London, UK., Reichmannová S; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Rohrbach M; Division of Metabolism, University Children's Hospital and Children's Research Centre, Zurich, Switzerland., Schneider SA; Department of Neurology, Ludwig Maximilians University, Munich, Germany., Shaikh A; Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, OH, USA., Sivananthan S; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK., Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany., Walterfarng M; Department of Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, VIC, Australia., Wibawa P; Department of Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, VIC, Australia., Martakis K; Department of Child Neurology, Justus Liebig University, Giessen, Germany.; Department of Pediatrics, Medical Faculty and University Hospital, University of Cologne, Cologne, Germany., Manto M; Unité Des Ataxies Cérébelleuses, Service de Neurologie, Médiathèque Jean Jacquy, CHU-Charleroi, 6000, Charleroi, Belgium.

Publikováno v: Journal of neurology [J Neurol] 2024 Oct; Vol. 271 (10), pp. 6888-6902. Date of Electronic Publication: 2024 Sep 03.

Trial of N -Acetyl-l-Leucine in Niemann-Pick Disease Type C.

Autor: Bremova-Ertl T; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Ramaswami U; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Brands M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Foltan T; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Gautschi M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Gissen P; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Gowing F; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Hahn A; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Jones S; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Kay R; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Kolnikova M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Arash-Kaps L; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Marquardt T; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Mengel E; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Park JH; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Reichmannová S; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Schneider SA; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Sivananthan S; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Walterfang M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Wibawa P; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Strupp M; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.)., Martakis K; From University Hospital Bern, Bern, Switzerland (T.B.-E., M.G.); Royal Free London NHS Foundation Trust (U.R., F.G.), University College London (U.R.), and Great Ormond Street Hospital, University College London (P.G., S.S.), London, Royal Manchester Children's Hospital, University of Manchester, Manchester (S.J.), and RK Statistics, Bakewell (R.K.) - all in the United Kingdom; Emma Children's Hospital-Amsterdam, University Medical Center, Amsterdam (M.B.); the National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovakia (T.F., M.K.); Justus Liebig University, Giessen (A.H., K.M.), SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim (L.A.-K., E.M.), University of Münster, Münster (T.M., J.H.P.), Ludwig Maximilian University, Munich (S.A.S., M.S.), and University of Cologne, Cologne (K.M.) - all in Germany; First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (S.R.); and the Royal Melbourne Hospital, Melbourne, VIC, Australia (M.W., P.W.).

Publikováno v: The New England journal of medicine [N Engl J Med] 2024 Feb 01; Vol. 390 (5), pp. 421-431.

PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology.

Autor: Rambani V; From the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia., Kolnikova M; From the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia., Cagalinec M; From the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia., Skopkova M; From the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia., Gasperikova D; From the Institute of Experimental Endocrinology (V.R., M.C., M.S., D.G.), Biomedical Reserach Center, Slovak Academy of Sciences; Medical Faculty of Comenius University and National Institute of Childern's Diseases (M.K.); Centre of Excellence for Advanced Material Application (M.C.), Slovak Academy of Sciences, Bratislava, Slovakia.

Publikováno v: Neurology. Genetics [Neurol Genet] 2023 Nov 14; Vol. 9 (6), pp. e200106. Date of Electronic Publication: 2023 Nov 14 (Print Publication: 2023).

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

Autor: Skopkova M; Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Bratislava, Slovakia., Stufkova H; Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Rambani V; Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Bratislava, Slovakia., Stranecky V; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Brennerova K; Department of Paediatrics, Medical Faculty of Comenius University, National Institute of Children's Diseases, Bratislava, Slovakia., Kolnikova M; Department of Paediatric Neurology, Medical Faculty of Comenius University, National Institute of Children's Diseases, Bratislava, Slovakia., Pietrzykova M; Department of Clinical Genetics, Institute of Medical Biology, Genetics and Clinical Genetics, Medical Faculty of Comenius University, University Hospital in Bratislava, Bratislava, Slovakia., Karhanek M; Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Bratislava, Slovakia., Noskova L; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Tesarova M; Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Hansikova H; Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Gasperikova D; Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Bratislava, Slovakia. daniela.gasperikova@savba.sk.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Apr 24; Vol. 18 (1), pp. 92. Date of Electronic Publication: 2023 Apr 24.

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