Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.

Autor: Misko AL; Department of Neurology and Center for Genomic Medicine (A.L.M., M.D., R.O., Y.G., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston, MA; George W. Woodruff School of Mechanical Engineering (L.B.W.), Wallace H. Coulter Department of Biomedical Engineering, and Parker H. Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA; The Institute for Rare Diseases (A.R.-R.), The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler Faculty of Medicine (A.R.-R.), Tel Aviv University, Tel Aviv, Israel., Wood LB; Department of Neurology and Center for Genomic Medicine (A.L.M., M.D., R.O., Y.G., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston, MA; George W. Woodruff School of Mechanical Engineering (L.B.W.), Wallace H. Coulter Department of Biomedical Engineering, and Parker H. Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA; The Institute for Rare Diseases (A.R.-R.), The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler Faculty of Medicine (A.R.-R.), Tel Aviv University, Tel Aviv, Israel., DeBono M; Department of Neurology and Center for Genomic Medicine (A.L.M., M.D., R.O., Y.G., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston, MA; George W. Woodruff School of Mechanical Engineering (L.B.W.), Wallace H. Coulter Department of Biomedical Engineering, and Parker H. Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA; The Institute for Rare Diseases (A.R.-R.), The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler Faculty of Medicine (A.R.-R.), Tel Aviv University, Tel Aviv, Israel., Oberman R; Department of Neurology and Center for Genomic Medicine (A.L.M., M.D., R.O., Y.G., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston, MA; George W. Woodruff School of Mechanical Engineering (L.B.W.), Wallace H. Coulter Department of Biomedical Engineering, and Parker H. Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA; The Institute for Rare Diseases (A.R.-R.), The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler Faculty of Medicine (A.R.-R.), Tel Aviv University, Tel Aviv, Israel., Raas-Rothschild A; Department of Neurology and Center for Genomic Medicine (A.L.M., M.D., R.O., Y.G., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston, MA; George W. Woodruff School of Mechanical Engineering (L.B.W.), Wallace H. Coulter Department of Biomedical Engineering, and Parker H. Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA; The Institute for Rare Diseases (A.R.-R.), The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler Faculty of Medicine (A.R.-R.), Tel Aviv University, Tel Aviv, Israel., Grishchuk Y; Department of Neurology and Center for Genomic Medicine (A.L.M., M.D., R.O., Y.G., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston, MA; George W. Woodruff School of Mechanical Engineering (L.B.W.), Wallace H. Coulter Department of Biomedical Engineering, and Parker H. Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA; The Institute for Rare Diseases (A.R.-R.), The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler Faculty of Medicine (A.R.-R.), Tel Aviv University, Tel Aviv, Israel., Eichler F; Department of Neurology and Center for Genomic Medicine (A.L.M., M.D., R.O., Y.G., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston, MA; George W. Woodruff School of Mechanical Engineering (L.B.W.), Wallace H. Coulter Department of Biomedical Engineering, and Parker H. Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA; The Institute for Rare Diseases (A.R.-R.), The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler Faculty of Medicine (A.R.-R.), Tel Aviv University, Tel Aviv, Israel.

Publikováno v: Neurology. Genetics [Neurol Genet] 2022 Mar 10; Vol. 8 (2), pp. e662. Date of Electronic Publication: 2022 Mar 10 (Print Publication: 2022).

White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.

Autor: Zerem A; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Ben-Sira L; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Radiology, Department of Radiology, Sackler Faculty of Medicine, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Vigdorovich N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. nitzivi@gmail.com.; Schneider Children's Medical Center of Israel, Petach-Tikva, Israel. nitzivi@gmail.com., Leibovitz Z; Fetal Neurology Clinic, Wolfson Medical Center, Holon, Israel.; Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center and Rappaport Faculty of Medicine, The Technion, Haifa, Israel., Fisher Y; Department of Pathology, Rambam Health Care Campus Haifa and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Schiffmann R; Baylor Scott and White Research Institute, Dallas, TX, USA., Grishchuk Y; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, Boston, MA, USA., Misko AL; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, Boston, MA, USA., Orenstein N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach-Tikva, Israel., Lev D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Fetal Neurology Clinic, Wolfson Medical Center, Holon, Israel.; Genetics Institute, Wolfson Medical Center, Holon, Israel., Lerman-Sagie T; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Fetal Neurology Clinic, Wolfson Medical Center, Holon, Israel.; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel., Kidron D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Pathology Department, Meir Medical Center, Kfar-Saba, Israel.

Publikováno v: Metabolic brain disease [Metab Brain Dis] 2021 Oct; Vol. 36 (7), pp. 2155-2167. Date of Electronic Publication: 2021 May 08.

Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency.

Autor: Mellis AT; Department of Chemistry, Institute for Biochemistry, University of Cologne, Cologne, Germany., Roeper J; Department of Chemistry, Institute for Biochemistry, University of Cologne, Cologne, Germany., Misko AL; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States., Kohl J; Department of Chemistry, Institute for Biochemistry, University of Cologne, Cologne, Germany., Schwarz G; Department of Chemistry, Institute for Biochemistry, University of Cologne, Cologne, Germany.; Center for Molecular Medicine, University of Cologne, Cologne, Germany.

Publikováno v: Frontiers in genetics [Front Genet] 2021 Jan 07; Vol. 11, pp. 594828. Date of Electronic Publication: 2021 Jan 07 (Print Publication: 2020).

Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.

Autor: Misko AL; Departments of Neurology (A.L.M., Y.L., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston; and the Department of Chemistry (J.B.K.), Institute of Biochemistry, University of Cologne, Germany., Liang Y; Departments of Neurology (A.L.M., Y.L., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston; and the Department of Chemistry (J.B.K.), Institute of Biochemistry, University of Cologne, Germany., Kohl JB; Departments of Neurology (A.L.M., Y.L., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston; and the Department of Chemistry (J.B.K.), Institute of Biochemistry, University of Cologne, Germany., Eichler F; Departments of Neurology (A.L.M., Y.L., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston; and the Department of Chemistry (J.B.K.), Institute of Biochemistry, University of Cologne, Germany.

Publikováno v: Neurology. Genetics [Neurol Genet] 2020 Jul 14; Vol. 6 (4), pp. e486. Date of Electronic Publication: 2020 Jul 14 (Print Publication: 2020).

Big Black Brain Phenomenon: Understanding Clinicoradiological Dissociation in Non-Accidental Traumatic Brain Injury in Children.

Autor: Beriwal N; Medicine, Lady Hardinge Medical College, New Delhi, IND., Misko AL; Department of Neurology, Massachusetts General Hospital, and Harvard Medical School, Boston, USA., Duhaime AC; Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, USA.

Publikováno v: Cureus [Cureus] 2020 May 07; Vol. 12 (5), pp. e8011. Date of Electronic Publication: 2020 May 07.