A. Donsante

发表

L‐Threo‐Dihydroxyphenylserine corrects neurochemical abnormalities in a menkes disease mouse model

D. Goldstein, S. Kaler, P. Sullivan, 2013, Annals of neurology.

Prenatal diagnostic conundrum involving a novel ATP7A duplication

D. Waggoner, S. Das, D. Gaudio, 2013, Clinical genetics.

Fetal Brain-directed AAV Gene Therapy Results in Rapid, Robust, and Persistent Transduction of Mouse Choroid Plexus Epithelia

S. Kaler, P. Zerfas, M. Haddad, 2013, Molecular therapy. Nucleic acids.

ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model.

D. Goldstein, S. Kaler, E. Rushing, 2011, Molecular therapy : the journal of the American Society of Gene Therapy.

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease

S. Kaler, Susumu Sato, A. Donsante, 2010, Journal of Inherited Metabolic Disease.

Gene Therapy for the Treatment of Neurological Disorders: Amyotrophic Lateral Sclerosis.

N. Boulis, Z. McEachin, A. Donsante, 2016, Methods in molecular biology.

Clinical response to persistent, low-level β-glucuronidase expression in the murine model of mucopolysaccharidosis type VII

M. Sands, C. Vogler, B. Levy, 2007, Journal of Inherited Metabolic Disease.

Increased frequency of congenital heart defects in Menkes disease

T. Pierson, S. Kaler, A. Donsante, 2012, Clinical dysmorphology.

Stem Cells for Amyotrophic Lateral Sclerosis

N. Boulis, A. Donsante, L. Urquia, 2016 .

Controlling the Release of Neurotrophin‐3 and Chondroitinase ABC Enhances the Efficacy of Nerve Guidance Conduits

Younan Xia, Jiajia Xue, N. Boulis, 2020, Advanced healthcare materials.

Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses

N. Boulis, A. Donsante, 2018, Expert opinion on biological therapy.

Central nervous system-directed AAV2/5-mediated gene therapy synergizes with bone marrow transplantation in the murine model of globoid-cell leukodystrophy.

M. Sands, C. Vogler, B. Levy, 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

AAV Vector Integration Sites in Mouse Hepatocellular Carcinoma

Daniel G. Miller, Elizabeth M. Brunt, D. Russell, 2007, Science.

Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors

T. Flotte, T. Daly, N. Muzyczka, 2001, Gene Therapy.

Gene, Stem Cell, and Alternative Therapies for SCA 1

N. Boulis, D. M. O’Connor, A. Donsante, 2016, Front. Mol. Neurosci..

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

A. Bassuk, D. Goldstein, S. Kaler, 2007, Journal of Medical Genetics.

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

P. Huppke, P. J. Steinbach, S. Kaler, 2012, Human mutation.

Lentiviral-Induced Spinal Cord Gliomas in Rat Model

P. Canoll, N. Boulis, S. Neill, 2021, International journal of molecular sciences.

Neonatal diagnosis and treatment of Menkes disease.

D. Goldstein, N. Patronas, S. Kaler, 2008, The New England journal of medicine.

Chapter 8 – Gene Therapy for Amyotrophic Lateral Sclerosis: Therapeutic Transgenes

A. Donsante, 2017 .

Gene Therapy for Amyotrophic Lateral Sclerosis

A. Donsante, 2017 .

Intracerebroventricular delivery of self-complementary adeno-associated virus serotype 9 to the adult rat brain

L. Kanz, N. Boulis, D. M. O’Connor, 2016, Gene Therapy.

Favorably skewed X‐inactivation accounts for neurological sparing in female carriers of Menkes disease

V. Desai, A. Donsante, S. Kaler, 2011, Clinical genetics.

Translational read‐through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease

S. Kaler, C. Kaneski, A. Donsante, 2009, Annals of neurology.

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.

S. Kaler, J. Garbern, M. Kennerson, 2012, Human molecular genetics.

Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.

N. Patronas, S. Kaler, V. Desai, 2008, Molecular genetics and metabolism.

Minimally Invasive Injection to the Phrenic Nerve in a Porcine Hemidiaphragmatic Paralysis Model: A Pilot Study.

N. Boulis, P. Texakalidis, Muhibullah S. Tora, 2020, Neurosurgery.

Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain

S. Kaler, L. Jansen, A. Donsante, 2010, American journal of medical genetics. Part A.

Lot-to-lot Variation in Adeno-associated Virus Serotype 9 (AAV9) Preparations.

M. Jarrold, N. Boulis, Corinne A. Lutomski, 2019, Human gene therapy methods.

A novel antibody to treat SOD1-related amyotrophic lateral sclerosis.

N. Boulis, A. Donsante, 2023, Molecular therapy. Methods & clinical development.

Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain

S. Kaler, L. Jansen, A. Donsante, 2010, American journal of medical genetics. Part A.

Current and emerging targeted therapies for spinal muscular atrophy.

N. Boulis, A. Donsante, Yuliya Lakhina, 2023, Expert review of neurotherapeutics.