Elena Parrini - Paediatric Neurology Unit and Laboratories A. Meyer Children's Hospital, University of Florence

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论文共 121 篇作者统计合作学者相似作者

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Cerebral Malformations

Renzo Guerrini,Elena Parrini

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Diseasepp.303-323, (2025)

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Endocrinological Features and Epileptic Encephalopathy in COX Deficiency Due to SCO1 Mutations: Case Series and Review of Literature

Alessandro Barbato,Giulia Gori,Michele Sacchini,Francesca Pochiero,Sara Bargiacchi,Giovanna Traficante,Viviana Palazzo,Lucia Tiberi,Claudia Bianchini,Davide Mei,Elena Parrini,Tiziana Pisano,Elena Procopio,Renzo Guerrini,Angela Peron,Stefano Stagi

ENDOCRINE CONNECTIONSno. 10 (2024)

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Hypopituitarism As a New Sign of Mitochondrial Complex IV Deficiency Nuclear Type 4

Giulia Gori,Alessandro Barbato,Giovanna Traficante,Giorgia Mancano,Francesca Pochiero,Michele Sacchini,Viviana Palazzo,Lucia Tiberi,Annarita Giliberti,Claudia Bianchini,Davide Mei,Elena Parrini,Renzo Guerrini,Stefano Stagi,Angela Peron

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 435-435

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International Consensus Recommendations on the Diagnostic Work-Up for Malformations of Cortical Development

Developmental Medicine & Child Neurologyno. 8 (2024): 974-989

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Multiorgan Manifestations of COL4A1 and COL4A2 Variants and Proposal for a Clinical Management Protocol

American Journal of Medical Genetics Part C Seminars in Medical Genetics (2024)

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De Novo Monoallelic Reelin Missense Variants Act in a Dominant-Negative Manner Causing Neuronal Migration Disorders

Martina Riva, Sofia Ferreira, Kotaro Hayashi,Yoann Saillour,Vera P. Medvedeva,Takao Honda,Kanehiro Hayashi, Claire Altersitz,Shahad Albadri,Marion Rosello,Julie Dang,Malo Serafini,Frédéric Causeret,Olivia J. Henry,Charles-Joris Roux,Céline Bellesme,Elena Freri,Dragana Josifova,Elena Parrini,Renzo Guerrini,Filippo Del Bene,Kazunori Nakajima, Nadia Bahi-Buisson,Alessandra Pierani

Journal of Clinical Investigation (2024)

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Double Gonosomal Mosaicism As an Unusual Hereditary Mechanism in Familialgrin2a-Related Disorder

Valentina Cetica,Mara Cavallin, Maria Luisa Ricci, Claudia Mandorlini,Emanuele Bartolini,Elena Parrini,Renzo Guerrini

Journal of Medical Geneticspp.jmg-110101, (2024)

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De Novo Monoallelic Reelin Missense Variants Cause Dominant Neuronal Migration Disorders Via a Dominant-Negative Mechanism

JOURNAL OF CLINICAL INVESTIGATIONno. 16 (2024)

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Continuous Spike-Wave of Slow Sleep in a Patient with KCNB1-related Epilepsy Responsive to Highly Purified Cannabidiol: a Case Report and Comparison with Literature

Giulia Ferrera,Emilia Ricci,Angela Peron,Elena Parrini, Aglai Vignoli,Maria Paola Canevini

Neurocaseno. 2 (2024): 68-72

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