Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics von Nicolaou, Paschalis

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Enrichr in silico analysis of MS-based extracted candidate proteomic biomarkers highlights pathogenic pathways in systemic sclerosis von Chairta, Paraskevi P., Nicolaou, Paschalis, Christodoulou, Kyproula

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Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR von Minaidou, Anna, Nicolaou, Paschalis, Christodoulou, Kyproula

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Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript von Votsi, Christina, Koutsou, Pantelitsa, Ververis, Antonis, Georghiou, Anthi, Nicolaou, Paschalis, Tanteles, George, Christodoulou, Kyproula

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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease von Cinarli Yuksel, Feride, Nicolaou, Paschalis, Spontarelli, Kerri, Dohrn, Maike F., Rebelo, Adriana P., Koutsou, Pantelitsa, Georghiou, Anthi, Artigas, Pablo, Züchner, Stephan L., Kleopa, Kleopas A., Christodoulou, Kyproula

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The influence of environmental risk factors in the development of ALS in the Mediterranean Island of Cyprus von Mitsi, Ellie, Christodoulou, Christiana C, Nicolaou, Paschalis, Christodoulou, Kyproula, Zamba-Papanicolaou, Eleni

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Comparative analysis of affected and unaffected areas of systemic sclerosis skin biopsies by high-throughput proteomic approaches von Chairta, Paraskevi, Nicolaou, Paschalis, Sokratous, Kleitos, Galant, Christine, Houssiau, Frederic, Oulas, Anastasis, Spyrou, George M., Alarcon-Riquelme, Marta E., Lauwerys, Bernard R., Christodoulou, Kyproula

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A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia von Votsi, Christina, Ververis, Antonis, Nicolaou, Paschalis, Christou, Yiolanda-Panayiota, Christodoulou, Kyproula, Zamba-Papanicolaou, Eleni

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A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature von Nicolaou, Paschalis, Tanteles, George A., Votsi, Christina, Zamba-Papanicolaou, Eleni, Papacostas, Savvas S., Christodoulou, Kyproula, Christou, Yiolanda-Panayiota

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Down-regulation of myogenin can reverse terminal muscle cell differentiation von Mastroyiannopoulos, Nikolaos P, Nicolaou, Paschalis, Anayasa, Mustafa, Uney, James B, Phylactou, Leonidas A

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LRSAM1 Depletion Affects Neuroblastoma SH-SY5Y Cell Growth and Morphology: The LRSAM1 c.2047-1G>A Loss-of-Function Variant Fails to Rescue The Phenotype von Minaidou, Anna, Nicolaou, Paschalis, Christodoulou, Kyproula

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Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia von Kakouri, Andrea C, Votsi, Christina, Oulas, Anastasis, Nicolaou, Paschalis, Aureli, Massimo, Lunghi, Giulia, Samarani, Maura, Compagnoni, Giacomo M, Salani, Sabrina, Di Fonzo, Alessio, Christophides, Thalis, Tanteles, George A, Zamba-Papanicolaou, Eleni, Pantzaris, Marios, Spyrou, George M, Christodoulou, Kyproula

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Genomic and Genetic studies of Systemic Sclerosis: a systematic review von Chairta, Paraskevi, Nicolaou, Paschalis, Christodoulou, Kyproula

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A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia von Nicolaou, Paschalis, Georghiou, Anthi, Votsi, Christina, Middleton, Lefkos T, Zamba-Papanicolaou, Eleni, Christodoulou, Kyproula

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Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia von Liampas, Andreas, Nicolaou, Paschalis, Votsi, Christina, Georghiou, Anthi, Christodoulou, Kyproula, Tanteles, George A, Pantzaris, Marios

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Greek Sage Exhibits Neuroprotective Activity against Amyloid Beta-Induced Toxicity von Christodoulou, Kyproula, Nicolaou, Paschalis, Ioannou, Kristia, Savvidou, Georgia, Ververis, Antonis, Plioukas, Michael

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A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia von Lambrianides, Sakis, Nicolaou, Paschalis, Michaelidou, Mikaela, Kakouris, Panos, Votsi, Christina, Petrou, Petros P., Drousiotou, Anthi, Minaidou, Anna, Demetriou, Praxitelis, Voulgaris, Costas, Christodoulou, Kyproula, Tanteles, George A., Pantzaris, Marios

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Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population: A Pilot Study von Chairta, Paraskevi, Psarelis, Savvas, Michailidou, Kyriaki, Demetriou, Christiana, Symeonidou, Sofia, Nicolaou, Paschalis, Christodoulou, Kyproula

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A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease von Nicolaou, Paschalis, Cianchetti, Carlo, Minaidou, Anna, Marrosu, Giovanni, Zamba-Papanicolaou, Eleni, Middleton, Lefkos, Christodoulou, Kyproula

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RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls von Votsi, Christina, Tomazou, Marios, Nicolaou, Paschalis, Pantzaris, Marios C, Pitsas, Giorgos, Adamou, Archontia, Kleopa, Kleopas A, Zamba-Papanicolaou, Eleni, Christodoulou, Kyproula

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