Animal models for metabolic, neuromuscular and ophthalmological rare diseases

Large Animal Models of Neurological Disorders for Gene Therapy

(2013) C. Gagliardi et al.   ILAR JOURNAL

Gene Therapy for Lysosomal Storage Diseases (LSDs) in Large Animal Models

(2013) M. Haskins   ILAR JOURNAL

A call for transparent reporting to optimize the predictive value of preclinical research

(2012) Story C. Landis et al.   NATURE

Animal models for Gaucher disease research

(2011) T. Farfel-Becker et al.   Disease Models & Mechanisms

European regulation on orphan medicinal products: 10 years of experience and future perspectives

(2011)   NATURE REVIEWS DRUG DISCOVERY

Direct gene transfer to the CNS prevents emergence of neurologic disease in a murine model of mucopolysaccharidosis type I

(2011) Daniel A. Wolf et al.   NEUROBIOLOGY OF DISEASE

Overview of the mucopolysaccharidoses

(2011) J. Muenzer   RHEUMATOLOGY

Guidelines for preclinical animal research in ALS/MND: A consensus meeting

(2010) Albert C. Ludolph et al.   Amyotrophic Lateral Sclerosis

Increased globotriaosylceramide levels in a transgenic mouse expressing human  1,4-galactosyltransferase and a mouse model for treating Fabry disease

(2010) C. Shiozuka et al.   JOURNAL OF BIOCHEMISTRY

Cyclosporin A Eye Drops Inhibit Fibrosis and Inflammatory Cell Infiltration in Murine Type I Allergic Conjunctivitis without Affecting the Early-Phase Reaction

(2009) Daisuke Shii et al.   CURRENT EYE RESEARCH

Autoimmune disorders of the neuromuscular junction

(2009) Bethan Lang et al.   CURRENT OPINION IN PHARMACOLOGY

The development of the rat model of retinopathy of prematurity

(2009) Joshua M. Barnett et al.   DOCUMENTA OPHTHALMOLOGICA

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations

(2009) Sonia Clavero et al.   HUMAN MOLECULAR GENETICS

Temporal Neuropathologic and Behavioral Phenotype of 6neo/6neoPompe Disease Mice

(2009) Richard L. Sidman et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

(2009) Albert M Maguire et al.   LANCET

Generation of transgenic monkeys with human inherited genetic disease

(2009) Anthony W.S. Chan et al.   METHODS

Experimental models for the study of neurodegeneration in amyotrophic lateral sclerosis

(2009) Luis B Tovar-y-Romo et al.   Molecular Neurodegeneration

Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring

(2009) Björn Hoffmann   Orphanet Journal of Rare Diseases

Amyotrophic lateral sclerosis

(2009) Lokesh C Wijesekera et al.   Orphanet Journal of Rare Diseases

Neural deficits contribute to respiratory insufficiency in Pompe disease

(2009) L. R. DeRuisseau et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Characterization of Naturally Occurring CD4+CD25+ Regulatory T Cells in Rhesus Monkeys

(2009) Krista G. Haanstra et al.   TRANSPLANTATION

Review of the Ocular Angiogenesis Animal Models

(2009) Sandra R. Montezuma et al.   Seminars in Ophthalmology

Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial

(2008) William W. Hauswirth et al.   HUMAN GENE THERAPY

Motor Neuron Disease Occurring in a Mutant Dynactin Mouse Model Is Characterized by Defects in Vesicular Trafficking

(2008) F. M. Laird et al.   JOURNAL OF NEUROSCIENCE

Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid β-glucosidase residual activity levels

(2008) You-Hai Xu et al.   MOLECULAR GENETICS AND METABOLISM

Reversal of Blindness in Animal Models of Leber Congenital Amaurosis Using Optimized AAV2-mediated Gene Transfer

(2008) Jeannette Bennicelli et al.   MOLECULAR THERAPY

Rodent genetic models of Huntington disease

(2008) Mary Y. Heng et al.   NEUROBIOLOGY OF DISEASE

Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice

(2008) L.G. Rodrigues et al.   NEUROBIOLOGY OF DISEASE

ALS2/Alsin Knockout Mice and Motor Neuron Diseases

(2008) Huaibin Cai et al.   Neurodegenerative Diseases

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Relevance of Animal Models to Human Uveitis

(2008) Bahram Bodaghi et al.   OPHTHALMIC RESEARCH

Mouse Models of Experimental Autoimmune Uveitis

(2008) Rachel R. Caspi et al.   OPHTHALMIC RESEARCH

Chemically modified  -glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII

(2008) J. H. Grubb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ocular gene therapy: current progress and future prospects

(2008) Pasqualina Colella et al.   TRENDS IN MOLECULAR MEDICINE