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Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
November 21, 2007
Auditory nerve is affected in one of two different point mutations of the neurofilament light gene
Dusan Butinar, Arnold Starr, Janez Zidar, et al.
Frontiers in Neurology
|
October 6, 2023
Spinal muscular atrophy type I associated with a novel <i>SMN1</i> splicing variant that disrupts the expression of the functional transcript
Christina Votsi, Pantelitsa Koutsou, Antonis Ververis, et al.
BMJ Case Reports
|
June 21, 2011
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit
Grace Yoon, Robyn Westmacott, Lynn Macmillan, et al.
Neurogenetics
|
June 19, 2004
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes
Kleopas A Kleopa, Domna-Maria Georgiou, Paschalis Nicolaou, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
September 28, 2006
A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease
Domna-Maria Georgiou, Paschalis Nicolaou, David Chitayat, et al.
Journal of the Neurological Sciences
|
June 5, 2009
Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met
Efthimios Dardiotis, Pantelitsa Koutsou, Eleni Zamba-Papanicolaou, et al.
Scientific Reports
|
December 27, 2024
Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study
Ellie Mitsi, Christina Votsi, Pantelitsa Koutsou, et al.
Neuroepidemiology
|
June 24, 2010
Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics
Paschalis Nicolaou, Eleni Zamba-Papanicolaou, Pantelitsa Koutsou, et al.
Journal of Neurology
|
February 4, 2023
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease
Feride Cinarli Yuksel, Paschalis Nicolaou, Kerri Spontarelli, et al.
Genes
|
October 29, 2025
Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus
Constantia Aristidou, Athina Theodosiou, Pavlos Antoniou, et al.
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Search research articles
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Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
November 21, 2007
Auditory nerve is affected in one of two different point mutations of the neurofilament light gene
Dusan Butinar, Arnold Starr, Janez Zidar, et al.
Frontiers in Neurology
|
October 6, 2023
Spinal muscular atrophy type I associated with a novel <i>SMN1</i> splicing variant that disrupts the expression of the functional transcript
Christina Votsi, Pantelitsa Koutsou, Antonis Ververis, et al.
BMJ Case Reports
|
June 21, 2011
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit
Grace Yoon, Robyn Westmacott, Lynn Macmillan, et al.
Neurogenetics
|
June 19, 2004
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes
Kleopas A Kleopa, Domna-Maria Georgiou, Paschalis Nicolaou, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
September 28, 2006
A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease
Domna-Maria Georgiou, Paschalis Nicolaou, David Chitayat, et al.
Journal of the Neurological Sciences
|
June 5, 2009
Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met
Efthimios Dardiotis, Pantelitsa Koutsou, Eleni Zamba-Papanicolaou, et al.
Scientific Reports
|
December 27, 2024
Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study
Ellie Mitsi, Christina Votsi, Pantelitsa Koutsou, et al.
Neuroepidemiology
|
June 24, 2010
Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics
Paschalis Nicolaou, Eleni Zamba-Papanicolaou, Pantelitsa Koutsou, et al.
Journal of Neurology
|
February 4, 2023
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease
Feride Cinarli Yuksel, Paschalis Nicolaou, Kerri Spontarelli, et al.
Genes
|
October 29, 2025
Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus
Constantia Aristidou, Athina Theodosiou, Pavlos Antoniou, et al.
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of 2