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Predicting the loss of ambulation in Duchenne muscular dystrophy

Arquivos de neuro-psiquiatria, 2014-01, Vol.72 (1), p.1-2

Zanoteli, Edmar

2014

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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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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Brain (London, England : 1878), 2019-06, Vol.142 (6), p.1547-1560

2019

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Long-term effects of muscle-derived stem cell therapy on the regeneration of the urethra of female rats

International Urogynecology Journal, 2022-04, Vol.33 (4), p.965-975

2022

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Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis

BioMed research international, 2018-01, Vol.2018, p.5069042-15

2018

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Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil

Neuromuscular disorders : NMD, 2018-11, Vol.28 (11), p.961-964

2018

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Severe progressive brain involvement in a patient with TRMT10C mutation

Arquivos de neuro-psiquiatria, 2021-03, Vol.79 (3), p.259-260

2021

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rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

Acta neuropathologica communications, 2020-10, Vol.8 (1), p.167-167, Article 167

2020

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The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

Neurobiology of aging, 2015-04, Vol.36 (4), p.1766.e1-1766.e3

2015

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Statin-associated necrotizing autoimmune myopathy

Modern rheumatology, 2014-09, Vol.24 (5), p.862-864

2014

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Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy

Jornal brasileiro de pneumologia, 2014-10, Vol.40 (5), p.528-534

2014

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Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort

Pediatric neurology, 2014-04, Vol.50 (4), p.400-406

2014

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Limb-girdle muscular dystrophy type 2A in Brazilian children

Arquivos de neuro-psiquiatria, 2015-12, Vol.73 (12), p.993-997

2015

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Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid

BMC neurology, 2011-03, Vol.11 (1), p.36-36, Article 36

2011

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Clinical aspects of patients with sarcoglycanopathies under steroids therapy

Arquivos de neuro-psiquiatria, 2014-10, Vol.72 (10), p.768-772

2014

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Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

The New England journal of medicine, 2021-07, Vol.385 (5), p.427-435

2021

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Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient

Arquivos de neuro-psiquiatria, 2017-01, Vol.75 (1), p.72-73

2017

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Phenotypic Intermediate Forms Overlapping to Emery-Dreifuss and Limb Girdle Muscular Dystrophies Caused by Lamin A/C Gene Mutations

Pediatric neurology, 2014-05, Vol.50 (5), p.e11-e12

2014

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Sporadic Inclusion Body Myositis: MRI Findings and Correlation With Clinical and Functional Parameters

American journal of roentgenology (1976), 2017-12, Vol.209 (6), p.1340

2017

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Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity

European radiology, 2018-12, Vol.28 (12), p.5293-5303

2018

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Child Neurology: A Case of FHL1 -Related Disease Presenting as Inflammatory Myopathy

Neurology, 2021-03, Vol.96 (9), p.e1383

2021

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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

American journal of human genetics, 2017-03, Vol.100 (3), p.523-536

2017

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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Acta neuropathologica, 2017-12, Vol.134 (6), p.889-904

2017

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Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases

Neuromuscular disorders : NMD, 2020-01, Vol.30 (1), p.54-58

2020

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Matching pairs difficulty in children with spinal muscular atrophy type I

Neuromuscular disorders : NMD, 2017-05, Vol.27 (5), p.419-427

2017

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Predicting the loss of ambulation in Duchenne muscular dystrophy

Severe brain involvement in 5q spinal muscular atrophy type 0

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Long-term effects of muscle-derived stem cell therapy on the regeneration of the urethra of female rats

Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil

Severe progressive brain involvement in a patient with TRMT10C mutation

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

Statin-associated necrotizing autoimmune myopathy

Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy

Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort

Limb-girdle muscular dystrophy type 2A in Brazilian children

Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid

Clinical aspects of patients with sarcoglycanopathies under steroids therapy

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient

Phenotypic Intermediate Forms Overlapping to Emery-Dreifuss and Limb Girdle Muscular Dystrophies Caused by Lamin A/C Gene Mutations

Sporadic Inclusion Body Myositis: MRI Findings and Correlation With Clinical and Functional Parameters

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity

Child Neurology: A Case of FHL1 -Related Disease Presenting as Inflammatory Myopathy

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases

Matching pairs difficulty in children with spinal muscular atrophy type I

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