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Hasan Akman

Research Profile

Physiology

Mutation

Anatomy

Disorders

Chemicals & Drugs

Procedures

DNA Mutational Analysis

Living Beings

Newborn Infant

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Publications

TOP 3
Valentina Emmanuele; A Reghan Foley; Jaya Ganesh; Rebecca Ichord; Purificación Gutierrez Rios; Evangelia Sotiriou; Hasan O Akman; Salvatore DiMauro
A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.
Sara Shanske; Hasan O Akman; Ramen Chmait; Michio Hirano; Jiesheng Lu; Mahesh Mansukhani; Ali Naini; Salvatore DiMauro
Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.
Ségolène Billot; Kristl G Claeys; Roseline Froissart; Dominique Hervé; Hasan O Akman; Christiane Baussan; Fanny Mochel; Monique Piraud; Frédéric Sedel; Pascal Laforêt
Acute but transient neurological deterioration revealing adult polyglucosan body disease.

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All Publications

2013: Valentina Emmanuele; A Reghan Foley; Jaya Ganesh; Rebecca Ichord; Purificación Gutierrez Rios; Evangelia Sotiriou; Hasan O Akman; Salvatore DiMauro
A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.
Journal of child neurology 2013;28(2):236-42.
2013: Sara Shanske; Hasan O Akman; Ramen Chmait; Michio Hirano; Jiesheng Lu; Mahesh Mansukhani; Ali Naini; Salvatore DiMauro
Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.
Journal of child neurology 2013;28(2):264-8.
2013: Ségolène Billot; Kristl G Claeys; Roseline Froissart; Dominique Hervé; Hasan O Akman; Christiane Baussan; Fanny Mochel; Monique Piraud; Frédéric Sedel; Pascal Laforêt
Acute but transient neurological deterioration revealing adult polyglucosan body disease.
Journal of the neurological sciences 2013;324(1-2):179-82.
2012: Beatriz Garcia-Diaz; Michio Hirano; Rita Horvath; Hasan O Akman; Mario H Barros; Darryl C De Vivo; Salvatore DiMauro; Nader El Gharaby; Valentina Emmanuele; Claudia C Ferreiro-Barros; Simone Sanna-Cherchi; Aly Shokr; Saba Tadesse; Catarina M Quinzii
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
American journal of human genetics 2012;91(4):729-36.
2012: Fanny Mochel; Marvin R Natowicz; J Michael Powers; Hanna Rosenmann; Raphael Schiffmann; Frédéric Sedel; Marjan E Steenweg; Marjo S van der Knaap; Mary Wallace; Hasan O Akman; Varda Barash; Alexis Brice; Bruno Barcelos Da Nobrega; Sophie Demeret; Alexandra Durr; Brent L Fogel; Roseline Froissart; J Moshe Gomori; Or Kakhlon; Pascal Laforêt; Richard Levy; Catherine Lubetzki; Thierry Maisonobe; Alexander Lossos
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
Annals of neurology 2012;72(3):433-41.
2012: Purificacion Gutiérrez Ríos; Hasan O Akman; Arun A Kalra; Eric A Schon; Kurenai Tanji; Jon D Wilson; Estela Area Gómez; Salvatore DiMauro
Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.
Archives of neurology 2012;69(5):657-61.
2011: Mariko Taniguchi-Ikeda; Toshifumi Yokota; Chih-chieh Yu; Hasan O Akman; Salvatore DiMauro; Ryuji Kaji; Motoi Kanagawa; Kazuhiro Kobayashi; Atsushi Kuga; Hiroki Kurahashi; Kouhei Mori; Tetsuya Oda; Shin'ichi Takeda; Tatsushi Toda
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
Nature 2011;478(7367):127-31.
2011: Beatriz Dorado; Estela Area; Hasan O Akman; Michio Hirano
Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.
Human molecular genetics 2011;20(1):155-64.
2010: Hasan O Akman; Guido Davidzon; Kurenai Tanji; Emma J Macdermott; Louann Larsen; Mercy M Davidson; Ronald G Haller; Lidia S Szczepaniak; Thomas J A Lehman; Michio Hirano; Salvatore DiMauro
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene.
Neuromuscular disorders : NMD 2010;20(6):397-402.
2010: Andoni Echaniz-Laguna; Hasan O Akman; Michel Mohr; Christine Tranchant; Violaine Talmant-Verbist; Marie-Odile Rolland; Salvatore DiMauro
Muscle phosphorylase b kinase deficiency revisited.
Neuromuscular disorders : NMD 2010;20(2):125-7.
2009: Ali Naini; Antonio Toscano; Olimpia Musumeci; John Vissing; Hasan O Akman; Salvatore DiMauro
Muscle phosphoglycerate mutase deficiency revisited.
Archives of neurology 2009;66(3):394-8.
2009: Ronen Spiegel; Estela Area Gomez; Hasan O Akman; Sindu Krishna; Yoseph Horovitz; Salvatore DiMauro
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.
Neuromuscular disorders : NMD 2009;19(3):207-11.
2009: Luis Lopez; Hasan O Akman; Angels García-Cazorla; Beatriz Dorado; Ramon Martí; Ichizo Nishino; Saba Tadesse; Giuseppe Pizzorno; Dikoma Shungu; Eduardo Bonilla; Kurenai Tanji; Michio Hirano
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
Human molecular genetics 2009;18(4):714-22.
2008: Hasan O Akman; Beatriz Dorado; Luis Lopez; Angels García-Cazorla; Maya R Vilà; Lauren M Tanabe; William T Dauer; Eduardo Bonilla; Kurenai Tanji; Michio Hirano
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.
Human molecular genetics 2008;17(16):2433-40.
2008: Molly E McCue; Stephanie J Valberg; Michael B Miller; Claire Wade; Salvatore DiMauro; Hasan O Akman; James R Mickelson
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
Genomics 2008;91(5):458-66.
2008: Esko Wiltshire; Guido Davidzon; Salvatore DiMauro; Hasan O Akman; Lynette Sadleir; Lindsay Haas; Jane Zuccollo; Alison McEwen; David R Thorburn
Juvenile Alpers disease.
Archives of neurology 2008;65(1):121-4.
2007: Hasan O Akman; James N Sampayo; Fiona A Ross; John W Scott; Gregory Wilson; Lee Benson; Claudio Bruno; Sara Shanske; D Grahame Hardie; Salvatore DiMauro
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
Pediatric research 2007;62(4):499-504.
2007: Claudio Bruno; Denise Cassandrini; Stefania Assereto; Hasan O Akman; Carlo Minetti; S Di Mauro
Neuromuscular forms of glycogen branching enzyme deficiency.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2007;26(1):75-8.
2007: Jacklyn Pancrudo; Sara Shanske; Eduardo Bonilla; Mariza Daras; Hasan O Akman; Sindu Krishna; Elfrida Malkin; Salvatore DiMauro
Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
Journal of child neurology 2007;22(7):858-62.
2006: Hasan O Akman; Charalampos Karadimas; Yolanda Gyftodimou; Maria Grigoriadou; Haris Kokotas; Anastasia E Konstantinidou; Hector Anninos; Efstratios Patsouris; Harshwardhan M Thaker; Jeffrey B Kaplan; Isaam Besharat; Konstantina Hatzikonstantinou; Spyridon Fotopoulos; Salvatore DiMauro; Michael B Petersen
Prenatal diagnosis of glycogen storage disease type IV.
Prenatal diagnosis 2006;26(10):951-5.
2006: Anastasia E Konstantinidou; Hector Anninos; Yolanda Gyftodimou; Michael B Petersen; Charalampos Karadimas; S Fotopoulos; H Paraskevakou; Hasan O Akman; Salvatore DiMauro; Efstratios Patsouris
Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis.
Histopathology 2006;48(7):878-80.
2005: Sadi Kaplan; Jeffrey A Morgan; Gianluigi Bisleri; Faisal H Cheema; Hasan O Akman; Veli K Topkara; Mehmet C Oz
Effects of resveratrol in storage solution on adhesion molecule expression and nitric oxide synthesis in vein grafts.
The Annals of thoracic surgery 2005;80(5):1773-8.
2005: Stacey K H Tay; Sabrina Sacconi; Hasan O Akman; Judith F Morales; Augusto Morales; Darryl C De Vivo; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
Journal of child neurology 2005;20(8):670-4.
2005: Hong Zhang; Varsha Vakil; Marc Braunstein; Eric L P Smith; Justin Maroney; Laurie Chen; Kezhi Dai; James R Berenson; M Mahmood Hussain; Uwe Klueppelberg; Allen J Norin; Hasan O Akman; Tayfun Ozçelik; Olcay A Batuman
Circulating endothelial progenitor cells in multiple myeloma: implications and significance.
Blood 2005;105(8):3286-94.
2005: Catarina M Quinzii; A G Kattah; Ali Naini; Hasan O Akman; V K Mootha; Salvatore DiMauro; Michio Hirano
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
Neurology 2005;64(3):539-41.
2004: Stacey K H Tay; Hasan O Akman; Wendy Chung; Michael G Pike; Francesco Muntoni; Arthur P Hays; Sara Shanske; Stephanie J Valberg; James R Mickelson; Kurenai Tanji; Salvatore DiMauro
Fatal infantile neuromuscular presentation of glycogen storage disease type IV.
Neuromuscular disorders : NMD 2004;14(4):253-60.
2003: Hong Zhang; Hasan O Akman; Eric L P Smith; Jin Zhao; Joanne E Murphy-Ullrich; Olcay A Batuman
Cellular response to hypoxia involves signaling via Smad proteins.
Blood 2003;101(6):2253-60.
2002: Karnail Singh; Olcay A Batuman; Hasan O Akman; Mamdouh H Kedees; Varsha Vakil; M Mahmood Hussain
Differential, tissue-specific, transcriptional regulation of apolipoprotein B secretion by transforming growth factor beta.
The Journal of biological chemistry 2002;277(42):39515-24.
2001: Hasan O Akman; Hong Zhang; M A Siddiqui; W Solomon; Eric L P Smith; Olcay A Batuman
Response to hypoxia involves transforming growth factor-beta2 and Smad proteins in human endothelial cells.
Blood 2001;98(12):3324-31.