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1 . Academic Journal
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation
저자
by
Emiliano Giardina
;
Paola Mandich
;
Roberta Ghidoni
;
Nicola Ticozzi
;
Giacomina Rossi
, et al.
소스
Frontiers in Neurology, Vol 15 (2024)
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7 . Academic Journal
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations
저자
by
Rosangela Ferese
;
Simona Scala
;
Antonio Suppa
;
Rosa Campopiano
;
Francesco Asci
, et al.
소스
Frontiers in Neurology, Vol 14 (2023)
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7 . Academic Journal
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies
저자
by
Stefania Zampatti
;
Cristina Peconi
;
Rosa Campopiano
;
Stefano Gambardella
;
Carlo Caltagirone
, et al.
소스
Frontiers in Aging Neuroscience, Vol 14 (2022)
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7 . Academic Journal
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset
저자
by
Rosa Campopiano
;
Rosangela Ferese
;
Stefania Zampatti
;
Emiliano Giardina
;
Francesca Biagioni
, et al.
소스
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
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7 . Academic Journal
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants
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by
Rosangela Ferese
;
Rosa Campopiano
;
Simona Scala
;
Carmelo D’Alessio
;
Marianna Storto
, et al.
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Frontiers in Genetics, Vol 12 (2021)
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7 . Academic Journal
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4
저자
by
Rosa Campopiano
;
Rosangela Ferese
;
Fabio Buttari
;
Cinzia Femiano
;
Diego Centonze
, et al.
소스
Frontiers in Neurology, Vol 10 (2020)
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7 . Academic Journal
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers
저자
by
Rosa Campopiano
;
Cinzia Femiano
;
Maria Antonietta Chiaravalloti
;
Rosangela Ferese
;
Diego Centonze
, et al.
소스
Genes, Vol 12, Iss 5, p 775 (2021)
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7 . Academic Journal
ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders
저자
by
Stefano Gambardella
;
Fiona Limanaqi
;
Rosangela Ferese
;
Francesca Biagioni
;
Rosa Campopiano
, et al.
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Frontiers in Immunology, Vol 10 (2019)
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7 . Academic Journal
Four Copies of SNCA Responsible for Autosomal Dominant Parkinson’s Disease in Two Italian Siblings
저자
by
Rosangela Ferese
;
Nicola Modugno
;
Rosa Campopiano
;
Marco Santilli
;
Stefania Zampatti
, et al.
소스
Parkinson's Disease, Vol 2015 (2015)
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7 .
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)
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by
Rosangela Ferese
;
Simona Scala
;
Antonio Suppa
;
Rosa Campopiano
;
Francesco Asci
, et al.
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