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The cloning of the virus envelope glycoprotein F of canine distemper virus expressed in Pichia pastoris

Microbial pathogenesis, 2020-05, Vol.142, p.104094-104094, Article 104094

2020

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An effective and simplified DO-stat control strategy for production of rabies glycoprotein in Pichia pastoris

Protein expression and purification, 2017-04, Vol.132, p.124-130

2017

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Complete genome amplification of equine influenza virus subtype 2

Revista argentina de microbiología, 2009-10, Vol.41 (4), p.207

2009

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Complete genome amplification of Equine influenza virus subtype 2

Revista argentina de microbiología, 2009-12, Vol.41 (4), p.207-211

2009

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Role of Taste Receptors in Innate Immunity and Oral Health

Journal of Dental Research, 2022-07, Vol.101 (7), p.759-768

2022

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Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.208-215

2018

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Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

The New England journal of medicine, 2017-11, Vol.377 (18), p.1723-1732

2017

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Severe brain involvement in 5q spinal muscular atrophy type 0

Annals of neurology, 2019-09, Vol.86 (3), p.458-462

2019

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Neurofilament as a potential biomarker for spinal muscular atrophy

Annals of clinical and translational neurology, 2019-05, Vol.6 (5), p.932-944

2019

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134P Beyond the “walker” label: functional diversity and disease impact in spinal muscular atrophy patients with walking ability

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.32

2024

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High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies

International journal of molecular sciences, 2021-09, Vol.22 (18), p.9705

2021

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The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

Journal of medical genetics, 2010-09, Vol.47 (9), p.640-642

2010

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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

International journal of molecular sciences, 2022-07, Vol.23 (15), p.8289

2022

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Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

The New England journal of medicine, 2018-02, Vol.378 (7), p.625-635

2018

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Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene

Clinical genetics, 2014-05, Vol.85 (5), p.470-475

2014

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Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia

Muscle & nerve, 2019-01, Vol.59 (1), p.137-141

2019

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Nasal Chemosensory Cells Use Bitter Taste Signaling to Detect Irritants and Bacterial Signals

Proceedings of the National Academy of Sciences - PNAS, 2010-02, Vol.107 (7), p.3210-3215

2010

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Pension schemes versus real estate

Annals of operations research, 2021-04, Vol.299 (1-2), p.797-809

2021

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In vivo pharmacological characterization of the structurally novel, potent, selective mGlu2/3 receptor agonist LY404039 in animal models of psychiatric disorders

Psychopharmacologia, 2007-07, Vol.193 (1), p.121-136

2007

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Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders

Journal of medical genetics, 2023-07, Vol.60 (7), p.685-691

2023

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Design, Synthesis, and Pharmacological Characterization of (+)-2-Aminobicyclo[3.1.0]hexane-2,6-dicarboxylic Acid (LY354740): A Potent, Selective, and Orally Active Group 2 Metabotropic Glutamate Receptor Agonist Possessing Anticonvulsant and Anxiolytic Properties

Journal of medicinal chemistry, 1997-02, Vol.40 (4), p.528-537

1997

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Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Neuromuscular disorders : NMD, 2018-02, Vol.28 (2), p.103-115

2018

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Correspondence on “Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype” by Zanoni et al

Genetics in medicine, 2022-03, Vol.24 (3), p.754-756

2022

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The cloning of the virus envelope glycoprotein F of canine distemper virus expressed in Pichia pastoris

An effective and simplified DO-stat control strategy for production of rabies glycoprotein in Pichia pastoris

Complete genome amplification of equine influenza virus subtype 2

Complete genome amplification of Equine influenza virus subtype 2

Role of Taste Receptors in Innate Immunity and Oral Health

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Severe brain involvement in 5q spinal muscular atrophy type 0

Neurofilament as a potential biomarker for spinal muscular atrophy

134P Beyond the “walker” label: functional diversity and disease impact in spinal muscular atrophy patients with walking ability

High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia

Nasal Chemosensory Cells Use Bitter Taste Signaling to Detect Irritants and Bacterial Signals

Pension schemes versus real estate

In vivo pharmacological characterization of the structurally novel, potent, selective mGlu2/3 receptor agonist LY404039 in animal models of psychiatric disorders

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders

Design, Synthesis, and Pharmacological Characterization of (+)-2-Aminobicyclo[3.1.0]hexane-2,6-dicarboxylic Acid (LY354740): A Potent, Selective, and Orally Active Group 2 Metabotropic Glutamate Receptor Agonist Possessing Anticonvulsant and Anxiolytic Properties

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Correspondence on “Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype” by Zanoni et al

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