Marzia Pollazzon - Azienda Sanitaria Unità Locale di Reggio Emilia

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论文共 52 篇作者统计合作学者相似作者

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Molecular and Biochemical Characterization of a Novel Missense Variant in COQ5 Causing Primary Coenzyme Q10 Deficiency

Roberta Zuntini,Marzia Pollazzon,Daniele Frattini,Stefano Caraffi,Veronica Bizzarri, Luca Pagliai, Antonietta Vezzani,Emanuele Coccia,Carlotta Spagnoli,Susanna Rizzi,Maria Marinelli,Carlo Fusco,Livia Garavelli

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 164-164

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Lessons from Two Series by Physicians and Caregivers' Self-Reported Data in DDX3X-related Disorders

Valentin Ruault,Pauline Burger, Johanna Gradels-Hauguel,Nathalie Ruiz,Rami Abou Jamra,Alexandra Afenjar,Yves Alembik,Jean-Luc Alessandri,Stephanie Arpin,Giulia Barcia,Sarka Bendova,Ange-Line Bruel,Perrine Charles,Nicolas Chatron,Maya Chopra,Solene Conrad,Valerie Cormier Daire,Auriane Cospain,Christine Coubes,Juliette Coursimault,Andree Delahaye-Duriez,Martine Doco,William Dufour,Benjamin Durand,Camille Engel,Laurence Faivre, Fanny Ferroul,Melanie Fradin, Helene Frenkiel,Carlo Fusco,Livia Garavelli,Aurore Garde,Benedicte Gerard,David Germanaud,Louise Goujon,Aurelie Gouronc,Emmanuelle Ginglinger,Alice Goldenberg,Miroslava Hancarova,Marketa Havlovicova,Delphine Heron,Bertrand Isidor,Nolwenn Jean Marcais,Boris Keren,Margarete Koch-Hogrebe,Paul Kuentz, Victoria Lamure,Anne-Sophie Lebre,Francois Lecoquierre,Natacha Lehman,Gaetan Lesca,Stanislas Lyonnet, Delphine Martin,Cyril Mignot,Teresa M. Neuhann,Gael Nicolas,Mathilde Nizon,Florence Petit,Christophe Philippe,Amelie Piton,Marzia Pollazzon,Darina Prchalova,Audrey Putoux,Marlene Rio,Sophie Rondeau,Massimiliano Rossi,Quentin Sabbagh,Pascale Saugier-Veber,Ariane Schmetz,Julie Steffann,Christel Thauvin-Robinet,Annick Toutain,Frederic Tran Mau Them,Gabriele Trimarchi,Marie Vincent,Marketa Vlckova,Dagmar Wieczorek,Marjolaine Willems,Kevin Yauy,Michaela Zelinova,Alban Ziegler,Boris Chaumette,Bekim Sadikovic,Jean-Louis Mandel,David Genevieve

Molecular genetics & genomic medicine（2024）

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'A Novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'

Ivana Frongia,Carlotta Spagnoli,Susanna Rizzi,Daniele Frattini, Alberta Leon,Stefano Giuseppe Caraffi,Marzia Pollazzon,Livia Garavelli,Francesco Pisani,Carlo Fusco

JOURNAL OF NEUROMUSCULAR DISEASESno. 1 (2024): 213-219

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Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature

Margherita Baga,Ivan Ivanovski,Gianluca Contro,Stefano Giuseppe Caraffi,Carlotta Spagnoli,Carlo Alberto Cesaroni,Alberto Neri,Francesca Peluso,Marzia Pollazzon,Livia Garavelli,Carlo Fusco

MOLECULAR SYNDROMOLOGYno. 1 (2023): 1-8

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Bi-allelic Variants in the ESAM Tight-Junction Gene Cause a Neurodevelopmental Disorder Associated with Fetal Intracranial Hemorrhage

American journal of human genetics（2023）

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Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review

Carlo Alberto Cesaroni,Carlotta Spagnoli,Margherita Baga,Susanna Rizzi,Daniele Frattini,Stefano Giuseppe Caraffi,Marzia Pollazzon,Livia Garavelli,Carlo Fusco

MOLECULAR SYNDROMOLOGYno. 6 (2023): 493-497

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Case Report: Expanding the Phenotype of FOXP1-related Intellectual Disability Syndrome and Hyperkinetic Movement Disorder in Differential Diagnosis with Epileptic Seizures

Carlo Alberto Cesaroni,Marzia Pollazzon,Cecilia Mancini,Susanna Rizzi,Camilla Cappelletti,Simone Pizzi,Daniele Frattini,Carlotta Spagnoli,Stefano Giuseppe Caraffi,Roberta Zuntini,Gabriele Trimarchi,Marcello Niceta,Francesca Clementina Radio,Marco Tartaglia,Livia Garavelli,Carlo Fusco

FRONTIERS IN NEUROLOGY (2023)

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Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings

Maria Paola Bonasoni,Giuseppina Comitini,Mariangela Pati,Veronica Bizzarri,Veronica Barbieri,Maria Marinelli,Stefano Giuseppe Caraffi,Roberta Zuntini,Marzia Pollazzon,Andrea Palicelli,Livia Garavelli

Fetal and pediatric pathology（2023）

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Two Novel CACNA1F Gene Mutations Cause Two Different Phenotypes: Aland Eye Disease and Incomplete Congenital Stationary Night Blindness

Alessandra Mihalich,Gabriella Cammarata,Gemma Tremolada,Marzia Pollazzon,Anna Maria Di Blasio,Stefania Bianchi Marzoli

Experimental Eye Research（2022）

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