Advanced search    

Search: authors:"Kleopas A. Kleopa"

5 papers found.
Use AND, OR, NOT, +word, -word, "long phrase", (parentheses) to fine-tune your search.

Retrospective longitudinal study of ALS in Cyprus: Clinical characteristics, management and survival

. Data curation: Christiana A. Demetriou, Petros M. Hadjivasiliou, Kleopas A. Kleopa, Yiolanda P. Christou, Eleni Leonidou, Theodoros Kyriakides, Eleni Zamba-Papanicolaou. Formal analysis: Christiana A ... . Demetriou, Petros M. Hadjivasiliou, Yiolanda P. Christou. Funding acquisition: Eleni Zamba-Papanicolaou. Investigation: Christiana A. Demetriou, Petros M. Hadjivasiliou, Kleopas A. Kleopa, Yiolanda

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

• Google ScholarSearch for Sarah Wong in:Nature Research journals • PubMed • Google ScholarSearch for Steven S. Scherer in:Nature Research journals • PubMed • Google ScholarSearch for Kleopas A. Kleopa

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN

Objective. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as well as motor manifestations that include speech difficulties, progressive dystonia, rigidity, and parkinsonism. PKAN is caused...

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN

A. Kleopa; yc.ca.gnic@apoelk Received 24 November 2016; Revised 2 March 2017; Accepted 12 March 2017; Published 16 April 2017 Academic Editor: Isabella Laura Simone Copyright © 2017 Yiolanda ... Genetics Clinic, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus 3European University Cyprus, Nicosia, Cyprus 4Retrophin Inc., New York, NY, USA Correspondence should be addressed to Kleopas

Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy

Although there is good experimental data that utrophin, the autosomal analog of dystrophin, can ameliorate the phenotype in dystrophinopathies, there is scant evidence from human data to support this hypothesis. We investigated in diagnostic muscle biopsies from 16 patients with Duchenne muscular dystrophy (DMD) the level of utrophin expression using quantitative immunoblot...