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Management of neuromuscular diseases and spinal muscular atrophy in Latin America

Gene therapy, 2017-09, Vol.24 (9), p.578-580

2017

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Acute and sub-acute neurological toxicity in children treated for acute lymphoblastic leukemia

Leukemia research, 2018-02, Vol.65, p.86-93

2018

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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

Neuropathology and applied neurobiology, 2011-04, Vol.37 (3), p.271-284

2011

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Expanding the clinical and molecular findings in a patient with Pompe disease

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S108-S108

2016

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Corrigendum to “22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd–7th October 2017” [Neuromuscular Disorders 27S2 (2017) S51–S270]

Neuromuscular disorders : NMD, 2017-11, Vol.27 (11), p.e1-e1

2017

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Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children

Journal of neuromuscular diseases, 2020-01, Vol.7 (4), p.453-458

2020

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Duchenne muscular dystrophy in children treated with corticosteroids. Impact on bone mineral density (BMD)

Bone (New York, N.Y.), 2011-12, Vol.49 (6), p.1379-1379

2011

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Interest of whole-body muscle MRI for the diagnosis of Pompe disease in rigid spine syndrome and differential diagnosis

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S109-S109

2016

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Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies

NEUROMUSCULAR DISORDERS, 2017, Vol.27, p.S138

2017

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Dystrophinopathies: A NGS approach for the molecular analysis of DMD gene

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S300-S300

2015

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ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S133-S133

2016

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G.P.275

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.899-900

2014

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G.P.145

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.844-845

2014

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G.P.265

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.896-897

2014

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Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S287-S288

2015

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G.P.264

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.896-896

2014

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P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.785-785

2013

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G.P.12.06 Progressive muscle biopsies morphological changes in MTM1-related centronuclear congenital myopathy

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.637-637

2009

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APPLICATION OF NEXT GENERATION TECHNOLOGIES

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S146

2021

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APPLICATION OF NEXT GENERATION TECHNOLOGIES: EP.318 Next-generation sequencing panel approach for the molecular diagnosis of neuromuscular diseases in Argentinian paediatric patients

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S146-S146

2021

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CMT AND NEUROGENIC DISEASE: P.336Imaging findings in patients with Guillain-Barré syndrome

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S131-S132

2018

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CMT AND NEUROGENIC DISEASE

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S131-S132

2018

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SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S54

2018

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DUCHENNE MUSCULAR DYSTROPHY – CLINICAL: P.19Prevalence of metabolic disorders in patients with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S37-S37

2018

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DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S37

2018

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Management of neuromuscular diseases and spinal muscular atrophy in Latin America

Acute and sub-acute neurological toxicity in children treated for acute lymphoblastic leukemia

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

Expanding the clinical and molecular findings in a patient with Pompe disease

Corrigendum to “22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd–7th October 2017” [Neuromuscular Disorders 27S2 (2017) S51–S270]

Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children

Duchenne muscular dystrophy in children treated with corticosteroids. Impact on bone mineral density (BMD)

Interest of whole-body muscle MRI for the diagnosis of Pompe disease in rigid spine syndrome and differential diagnosis

Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies

Dystrophinopathies: A NGS approach for the molecular analysis of DMD gene

ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings

G.P.275

G.P.145

G.P.265

Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies

G.P.264

P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy

G.P.12.06 Progressive muscle biopsies morphological changes in MTM1-related centronuclear congenital myopathy

APPLICATION OF NEXT GENERATION TECHNOLOGIES

APPLICATION OF NEXT GENERATION TECHNOLOGIES: EP.318 Next-generation sequencing panel approach for the molecular diagnosis of neuromuscular diseases in Argentinian paediatric patients

CMT AND NEUROGENIC DISEASE: P.336Imaging findings in patients with Guillain-Barré syndrome

CMT AND NEUROGENIC DISEASE

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL: P.19Prevalence of metabolic disorders in patients with Duchenne muscular dystrophy

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

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