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Author

J. Jofre

Observed names: J. Jofrè, J. Jofré, Javiera I Jofre, Javiera Jofré
ORCID: 0000-0002-4759-0461
Observed ORCID: 0000-0002-4759-0461
OpenAlex ID: A5062170515
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients
2025 · Vicente Quiroz, Julian E Alecu, et al. · Brain · 15
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Enfermedades neuromusculares. Epidemiología y políticas de salud en Chile
2018 · Claudia Castiglioni, Javiera Jofré, et al. · Revista Médica Clínica Las Condes · 13
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Sobrecarga del cuidador de pacientes con atrofia muscular espinal
2020 · Maripaz Martínez-Jalilie, Andrés Lozano-Arango, et al. · Revista Médica Clínica Las Condes · 12
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Spontaneous symptomatic improvement in a pediatric patient with anti-3-hydroxy-3-methylglutraryl-coenzyme A reductase myopathy
2020 · Bernardita Suárez, Javiera Jofré, et al. · Neuromuscular Disorders · 10
Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review
2026 · D. Diodato, L. Bosco, et al. · European Journal of Paediatric Neurology · 2
P442 Charcot Marie Tooth disease type 4J and FIG4 compound heterozygous mutation
2023 · B. Suarez, C. Vargas, et al. · Neuromuscular Disorders · 1
132PValidation of muscle phenotype in a COG1-related congenital muscular dystrophy patient without central nervous system involvement using a zebrafish model
2025 · G. Severa, F. Kroll, et al. · Neuromuscular Disorders
454PA case series of hnRNP-K associated myopathy
2025 · M. Schiava, J. Mannion, et al. · Neuromuscular Disorders
118P Characterization of patients with Type 1 Spinal Muscular Atrophy in advanced disease state treated with Nusinersen
2024 · J. Balkenhol, M. Beytia, et al. · Neuromuscular Disorders
VP188 Novel PIEZO2 variants in a cohort of arthrogryposis syndrome
2023 · J. Jofre, B. Suarez, et al. · Neuromuscular Disorders
P.190 Congenital muscular dystrophy associated to conserved oligomeric Golgi complex subunit 1 homozygous mutation
2022 · J. Balkenhol, P. Araneda, et al. · Neuromuscular Disorders
Congenital Muscular Dystrophies
2020 · B. Suarez, J. Jofre, et al. · Neuromuscular Disorders
Congenital Myopathies 2
2020 · J. Jofre, B. Suarez, et al. · Neuromuscular Disorders
SMA – THERAPY
2020 · C. Castiglioni, M. Martinez-Jalilie, et al. · Neuromuscular Disorders
EP.111Identification of novel biallelic mutations in SPTBN4 in a child with NEDHND featuring a spinal muscular atrophy phenotype
2019 · C. Castiglioni, R. Kelly, et al. · Neuromuscular Disorders
Works count: 15
Citation count: 53
H-index: 4
I10-index: 4
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