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Author

Matías Juanes

Observed names: M. Juanes, Matias Juanes
Institution: Garrahan Hospital
Observed institution: Garrahan Hospital
ORCID: 0000-0002-8840-0775
Observed ORCID: 0000-0002-8840-0775
OpenAlex ID: A5021119822
Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment
2014 · Matias Juanes, Gabriela Guercio, et al. · Clinical Endocrinology · 51
Five New Cases of 46,XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect
2014 · Roxana Marino, Natalia Perez Garrido, et al. · The Journal of Clinical Endocrinology & Metabolism · 37
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CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases
2023 · Francesca Darra, Manuela Monchelato, et al. · Epilepsy Research · 15
Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency
2013 · Matias Juanes, Roxana Marino, et al. · Clinical Endocrinology · 8
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Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients
2020 · Matias Juanes, Gabriel Veneruzzo, et al. · Epilepsy & Behavior · 7
Two familial cases of infantile epileptic spasms syndrome associated with UDP‐glucose‐6‐dehydrogenase deficiency
2024 · C. Suyo, G. Reyes Valenzuela, et al. · Epileptic Disorders · 4
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De novo absence status epilepticus associated with the SLC6A1 gene in a pediatric patient
2023 · Roberto H. Caraballo, Santiago Chacón, et al. · Epileptic Disorders · 3
Two novel heterozygous missense variations within the GLI2 gene in two unrelated Argentine patients.
2016 · Matías Juanes, Isabel Di Palma, et al. · PubMed · 3
Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina
2025 · María Eugenia Martín, Lenin Intriago, et al. · Seizure · 2
Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.
2022 · Matías Juanes, Mariana Loos, et al. · PubMed · 2
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies
2026 · Sopio Gverdtsiteli, Sebastian Ortiz, et al. · Epilepsia · 1
Koolen‐de Vries syndrome: Epilepsy‐associated features in a patient with a novel likely pathogenic KANSL1 single‐nucleotide variant
2026 · Sebastian Fortini, Matias Juanes, et al. · Epileptic Disorders
WWOX-related developmental and epileptic encephalopathy (WOREE): A case series of seven patients from Argentina
2026 · Jose Guevara, Maria Sol Touzon, et al. · Seizure
Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina
2026 · María Sol Touzon, Gabriela Reyes Valenzuela, et al. · Seizure
KCNJ11 ‐associated infantile epileptic spasms syndrome and neonatal diabetes
2026 · Bárbara Juliana Gonzalez, Matías Juanes, et al. · Epileptic Disorders
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Monozygotic twins with ZMYND11 ‐related developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep
2026 · Matias Juanes, María Sol Touzon, et al. · Epileptic Disorders
GRIN2D ‐Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic Spasms
2026 · L. R. Obregón Gómez, M. Juanes, et al. · International Journal of Developmental Neuroscience
Chronicle of a Gene Foretold: A Family Case Report
2025 · Daiana Natalí Espantoso, Gustavo Vijoditz, et al. · Journal of Human Immunity
Lafora disease ( NHLRC1 ) associated with multiple malformations of cortical development: A clinical vignette
2025 · Lucas Lozano‐García, María José Jiménez‐Villegas, et al. · Epileptic Disorders
Rapid Electroclinical Evolution in HECW2 ‐Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission
2025 · Sergio Melgarejo, Gabriela Reyes Valenzuela, et al. · International Journal of Developmental Neuroscience
Non‐epileptic stimulus‐sensitive myoclonus in a newborn with developmental and epileptic encephalopathy associated with the SCN8A gene
2024 · Silvana Calligaris, Matias Juanes, et al. · Epileptic Disorders
Expanding the Phenotypic Spectrum of GRIN1 Encephalopathy: Two Pediatric Patients with Atypical Findings
2024 · Mariana Loos, Matias Juanes, et al. · Journal of Pediatric Epilepsy
Dravet Syndrome: An Electroclinical, Genetic, Treatment, and Outcome Study of 35 Patients in Argentina
2024 · Roberto H. Caraballo, Gabriel Veneruzzo, et al. · Journal of Pediatric Epilepsy
Variable Phenotypes in the Same Patient with PRRT2-Associated Disorders
2024 · Mariana Loos, Maria Sol Touzon, et al. · Journal of Pediatric Epilepsy
THU157 Epigenetic Regulation Of Genes Involved In The Signaling Cascade Of The GH Axis - IGF1 And Insulin. Implication In Children Postnatal Growth
2023 · Luciana Zoff, Francisco Garcia, et al. · Journal of the Endocrine Society
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Works count: 30
Citation count: 133
H-index: 5
I10-index: 3
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