H. Akman

发表

Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.

S. Dimauro, W. Craigen, H. Akman, 2011, Human molecular genetics.

Muscle phosphoglycerate mutase deficiency revisited.

S. Dimauro, J. Vissing, A. Toscano, 2009, Archives of neurology.

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene

S. Dimauro, H. Akman, M. Hirano, 2014, Muscle & nerve.

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

S. Dimauro, N. Romero, A. Engel, 2013, Annals of neurology.

proteins in human endothelial cells 2 and Smad β Response to hypoxia involves transforming growth factor

W. Solomon, Hong Zhang, H. Akman, 2001 .

Characterization of cognitive impairment in adult polyglucosan body disease

B. Haslinger, T. Haack, H. Hengel, 2022, Journal of Neurology.

Circulating Endothelial Progenitor Cells in Multiple Myeloma: Implications and Significance Short title for running head: Circulating Endothelial Cells in Multiple Myeloma Scientific heading: Neoplasia Authors:

T. Özçelik, H. Akman, V. Vakil, 2004 .

MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics

E. Schon, R. Horvath, M. Shy, 2019, Human molecular genetics.

The Glycogen Storage Diseases and Related Disorders

S. Dimauro, H. Akman, G. Smit, 2006 .

A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome

J. Ganesh, S. Dimauro, R. Ichord, 2013, Journal of child neurology.

Glycogen and polyglucosan storage diseases

S. Dimauro, H. Akman, 2020 .

Glycogen Storage Diseases

S. Dimauro, H. Akman, 2015 .

Effects of resveratrol in storage solution on adhesion molecule expression and nitric oxide synthesis in vein grafts.

M. Oz, J. Morgan, F. Cheema, 2005, The Annals of thoracic surgery.

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

V. Mootha, S. Dimauro, H. Akman, 2005, Neurology.

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

V. Mootha, B. Paw, S. Dimauro, 2013, American journal of human genetics.

Mitochondrial Encephalomyopathy Due to a Novel Mutation in the tRNAGlu of Mitochondrial DNA

S. Dimauro, M. Daras, H. Akman, 2007, Journal of child neurology.

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

S. Dimauro, R. Haller, H. Akman, 2010, Neuromuscular Disorders.

Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.

H. Akman, M. Hirano, B. Dorado, 2011, Human molecular genetics.

Animal models of glycogen storage disorders.

W. Craigen, H. Akman, Adithya Raghavan, 2011, Progress in molecular biology and translational science.

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

S. Dimauro, H. J. Schelhaas, R. Wevers, 2008, Neurology.

Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies

S. Dimauro, G. Sevlever, A. Taratuto, 2010, Neuromuscular Disorders.

Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations

S. Dimauro, H. Akman, R. Spiegel, 2009, Neuromuscular Disorders.

S. Dimauro, A. Oliveira, H. Akman, 2020, Journal of inherited metabolic disease.

A myopathy with unusual features caused by PNPLA2 gene mutations

S. Dimauro, D. Tavian, S. Missaglia, 2015, Muscle & nerve.

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

Marni J. Falk, W. Chung, H. Hakonarson, 2018, Human molecular genetics.

Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis

S. Dimauro, A. Konstantinidou, Y. Gyftodimou, 2006, Histopathology.

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.

S. Dimauro, Michael B. Miller, M. McCue, 2008, Genomics.

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

R. Schiffmann, R. Levy, A. Durr, 2012, Annals of neurology.

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.

I. Nishino, D. Shungu, Á. García-Cazorla, 2009, Human molecular genetics.

Juvenile Alpers disease.

S. Dimauro, E. Wiltshire, A. McEwen, 2008, Archives of neurology.

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

S. Homma, V. Emmanuele, H. Akman, 2015, Human molecular genetics.

Cellular response to hypoxia involves signaling via Smad proteins.

Hong Zhang, H. Akman, Eric L. Smith, 2003, Blood.

Effects of halothane-nitrous oxide exposure on the testicular ultrastructure of mice

H. Akman, H. Özgür, E. Babar, 1993 .

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

V. Emmanuele, H. Akman, M. Hirano, 2014, EMBO molecular medicine.

Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency

G. Gao, H. Akman, M. Hirano, 2021, Annals of neurology.

Synergistic effect of deoxynucleosides and AAV gene therapy for thymidine kinase 2 deficiency

G. Gao, H. Akman, M. Hirano, 2020, bioRxiv.

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

W. Dauer, Á. García-Cazorla, H. Akman, 2008, Human molecular genetics.

Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency

E. Konofagou, M. Juanola-Falgarona, H. Akman, 2019, EBioMedicine.

Aurora kinase A inhibition reverses the Warburg effect and elicits unique metabolic vulnerabilities in glioblastoma

P. Canoll, J. Bruce, Angeliki Mela, 2021, Nature Communications.

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

S. Dimauro, H. Kurahashi, R. Kaji, 2011, Nature.

Circulating endothelial progenitor cells in multiple myeloma: implications and significance.

Hong Zhang, T. Ozcelik, M. Hussain, 2005, Blood.

Word Counts : Short title for running head : 49 characters

M. Hussain, H. Akman, V. Vakil, 2004 .

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

R. Schiffmann, P. Kang, D. Bali, 2023, Molecular genetics and metabolism.

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

A. Depaoli-Roach, P. Roach, Peixiang Wang, 2020, Annals of clinical and translational neurology.

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.

S. Dimauro, R. Schiffmann, I. Lerer, 2015, JAMA neurology.

Prenatal diagnosis of glycogen storage disease type IV

S. Dimauro, E. Patsouris, A. Konstantinidou, 2006, Prenatal diagnosis.

Fatal infantile neuromuscular presentation of glycogen storage disease type IV

W. Chung, S. Dimauro, F. Muntoni, 2004, Neuromuscular Disorders.

Adult polyglucosan body disease: A case report of a manifesting heterozygote

S. Dimauro, B. Katirji, H. Akman, 2005, Muscle & nerve.

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

S. Dimauro, R. Horvath, S. Sanna-Cherchi, 2012, American Journal of Human Genetics.

Mitochondrial abnormalities in temporal lobe of autistic brain

S. Dimauro, E. Schon, G. Rosoklija, 2013, Neurobiology of Disease.

Branching enzyme deficiency: expanding the clinical spectrum.

S. Dimauro, C. Paradas, H. Akman, 2014, JAMA neurology.

Neuromuscular forms of glycogen branching enzyme deficiency.

C. Bruno, C. Minetti, S. Di Mauro, 2007, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

S. Benhamron, M. Weil, B. Minassian, 2021, EMBO molecular medicine.

Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3

S. Dimauro, D. Vivo, H. Akman, 2014, Journal of child neurology.

Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.

S. Dimauro, E. Schon, H. Akman, 2012, Archives of neurology.

A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children

S. Dimauro, K. Engelstad, D. D. De Vivo, 2016, Child neurology open.

Response to hypoxia involves transforming growth factor-beta2 and Smad proteins in human endothelial cells.

W. Solomon, H. Zhang, H. Akman, 2001, Blood.

Placental involvement in glycogen storage disease type IV.

S. Dimauro, A. Konstantinidou, H. Akman, 2008, Placenta.

Fatal Infantile Cardiac Glycogenosis with Phosphorylase Kinase Deficiency and a Mutation in the γ2-Subunit of AMP-Activated Protein Kinase

S. Dimauro, D. Hardie, F. Ross, 2007, Pediatric Research.

Induction of Synthetic Lethality by Activation of Mitochondrial ClpP and Inhibition of HDAC1/2 in Glioblastoma

E. Shang, M. Westhoff, H. Akman, 2021, Clinical cancer research : an official journal of the American Association for Cancer Research.

Guaiacol as a drug candidate for treating adult polyglucosan body disease.

P. Escribá, H. Senderowitz, W. Yue, 2018, JCI insight.

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome

R. Schiffmann, J. Hogrel, F. Mochel, 2018, Journal of Inherited Metabolic Disease.

Adult polyglucosan body disease presenting as a unilateral progressive plexopathy

A. Windebank, H. Akman, C. Kassardjian, 2016, Muscle & nerve.

Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase

S. Dimauro, N. Feinstein, O. Baba, 2013, Journal of neurochemistry.

Acute but transient neurological deterioration revealing adult polyglucosan body disease

F. Sedel, K. Claeys, P. Laforêt, 2013, Journal of the Neurological Sciences.

Editorial: Using Small Molecules to Treat Macromolecule Storage Disorders

P. Escribá, M. Weil, H. Akman, 2020, Frontiers in Cell and Developmental Biology.

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

S. Dimauro, C. Bacino, R. Haller, 2018, Neurology.

Mutation in an mtDNA Protein-Coding Gene

S. Dimauro, M. Mansukhani, R. Chmait, 2013, Journal of child neurology.

Muscle phosphorylase kinase deficiency

S. Dimauro, A. Echaniz-Laguna, P. Laforêt, 2012, Neurology.

Muscle phosphorylase b kinase deficiency revisited

S. Dimauro, M. Rolland, A. Echaniz-Laguna, 2010, Neuromuscular Disorders.

Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase beta (CHKB) Gene (P01.116)

S. Dimauro, E. Schon, H. Akman, 2012 .

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

V. Mootha, S. Dimauro, H. Akman, 2005, Neurology.

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1

S. Dimauro, E. Malfatti, N. Romero, 2016, Neuromuscular Disorders.

Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency

S. Dimauro, H. Akman, R. Spiegel, 2014, Movement disorders clinical practice.

Editorial: The expanding clinical and genetic basis of adult inherited neurometabolic disorders

A. Oliveira, H. Akman, W. B. Pinto, 2023, Frontiers in neurology.

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

S. Dimauro, R. Horvath, S. Sanna-Cherchi, 2012, American journal of human genetics.

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

S. Homma, V. Emmanuele, H. Akman, 2015, Human molecular genetics.

Antioxidant therapy of cobalt and vitamin E in hemosiderosis.

J. Michl, H. Akman, E. Kotilŏglu, 1998, The Journal of laboratory and clinical medicine.