G. Karadima

发表

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.

N. Wood, H. Houlden, G. Koutsis, 2012, Brain : a journal of neurology.

Association between the GABAA receptor α5 subunit gene locus (GABRA5) and bipolar affective disorder

C. Stefanis, G. Papadimitriou, D. Avramopoulos, 1998 .

Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

H. Houlden, G. Koutsis, M. Panas, 2015, Journal of Neurology.

APOE genotypes in Greek multiple sclerosis patients: no effect on the MS Severity Score

G. Koutsis, M. Panas, G. Karadima, 2007, Journal of Neurology.

Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement

G. Koutsis, M. Panas, G. Karadima, 2015, Case reports in neurological medicine.

Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15‐year experience

G. Koutsis, M. Panas, G. Karadima, 2015, Journal of the peripheral nervous system : JPNS.

Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction

G. Karadima, D. Vassilopoulos, M. Petersen, 1999, Clinical genetics.

C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population

G. Koutsis, M. Panas, G. Karadima, 2015, Neurobiology of Aging.

Replication study of GWAS risk loci in Greek multiple sclerosis patients

G. Koutsis, M. Panas, G. Karadima, 2018, Neurological Sciences.

Phenotypic discordance in a pair of monozygotic twins with Huntington’s disease

M. Panas, G. Karadima, D. Vassilopoulos, 2008, Clinical genetics.

From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17

G. Koutsis, M. Panas, G. Karadima, 2014, Case reports in neurological medicine.

Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease

Victor R. Martinez, C. Blackstone, M. Stamelou, 2021, Movement disorders : official journal of the Movement Disorder Society.

Lack of genetic association between the phospholipase A2 gene and bipolar mood disorder in a European multicentre case–control study

S. Cichon, M. Rietschel, M. Nöthen, 2006, Psychiatric genetics.

ALSUntangled 53: Carnitine supplements

Marios, A. Al-Chalabi, G. Davey-Smith, 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis

M. Panas, G. Karadima, M. Petersen, 2000, Journal of Neurology.

Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort

Marios, G. Koutsis, G. Karadima, 2018, Amyotrophic lateral sclerosis & frontotemporal degeneration.

New mutation of the MPZ gene in a family with the Dejerine–Sottas disease phenotype

M. Panas, G. Karadima, D. Vassilopoulos, 2007, Muscle & nerve.

Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18

G. Karadima, M. Petersen, A. Sertedaki, 1999, Journal of medical genetics.

Three new case reports of Arteriovenous malformation-related Amyotrophic Lateral Sclerosis

G. Karadima, E. Anagnostou, L. Stefanis, 2018, Journal of the Neurological Sciences.

Apolipoprotein E polymorphism in the Greek population

M. Panas, G. Karadima, D. Vassilopoulos, 1996, Clinical genetics.

Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot–Marie–Tooth type 1 neuropathy patients

G. Koutsis, M. Panas, G. Karadima, 2011, Clinical genetics.

Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population

H. Houlden, G. Koutsis, M. Panas, 2022, Journal of the Neurological Sciences.

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

E. Blennow, S. Kitsiou‐Tzeli, A. Tsezou, 1998, European Journal of Human Genetics.

Analysis of the Origin of the Extra Chromosome in Trisomy 8 in 4 Cases of Spontaneous Abortions

G. Karadima, D. Vassilopoulos, K. Brøndum‐Nielsen, 1998, Fetal Diagnosis and Therapy.

Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes

Z. Tümer, N. Moschonas, S. Douzgou, 2011, American journal of medical genetics. Part A.

Association between the GABA(A) receptor alpha5 subunit gene locus (GABRA5) and bipolar affective disorder.

C. Stefanis, G. Papadimitriou, D. Avramopoulos, 1998, American journal of medical genetics.

Central motor and sensory pathway involvement in an X-linked Charcot-Marie-Tooth family.

M. Panas, G. Karadima, E. Kararizou, 2008, Acta neurologica Belgica.

Four novel connexin 32 mutations in X-linked Charcot–Marie–Tooth disease. Phenotypic variability and central nervous system involvement

G. Koutsis, M. Panas, G. Karadima, 2014, Journal of the Neurological Sciences.

Four novel connexin 32 mutations in X–linked Charcot–Marie–Tooth disease with phenotypic variability

M. Panas, G. Karadima, D. Vassilopoulos, 2006, Journal of Neurology.

A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features

M. Panas, G. Karadima, D. Vassilopoulos, 2004, Journal of Neurology.

Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment

M. Panas, G. Karadima, D. Vassilopoulos, 2002, Neurology.

Late-onset Huntington's disease: diagnostic and prognostic considerations.

G. Koutsis, M. Panas, G. Karadima, 2014, Parkinsonism & related disorders.

Parkinsonism and Related Disorders

G. Koutsis, M. Panas, G. Karadima, 2014 .

Huntington's disease in Greece: the experience of 14 years

E. Vassos, M. Panas, G. Karadima, 2011, Clinical genetics.

Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21.

E. Feingold, T. Hassold, G. Karadima, 1997, Human molecular genetics.

Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans.

M Mikkelsen, T. Hassold, G. Karadima, 1998, Human molecular genetics.

Two sequence-ready contigs spanning the two copies of a 200-kb duplication on human 21q: partial sequence and polymorphisms.

J. Rossier, A. Chakravarti, D. Nižetić, 1998, Genomics.

Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case–control study

S. Cichon, M. Rietschel, M. Nöthen, 2003, Psychiatric genetics.

X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association

M. Anagnostouli, G. Koutsis, M. Panas, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Molecular cytogenetic characterization and origin of two de novo duplication 9p cases.

E. Blennow, A. Tsezou, G. Karadima, 2000, American journal of medical genetics.

Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome.

G. Karadima, D. Vassilopoulos, M. Petersen, 2000, American journal of medical genetics.

Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.

G. Karadima, I. Kennerknecht, M. Petersen, 2000, American journal of medical genetics.

GABA-A receptor β3 and α5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder : A Genetic Association Study

C. Stefanis, G. Papadimitriou, D. Avramopoulos, 2001 .

An APOA1 promoter polymorphism is associated with cognitive performance in patients with multiple sclerosis

G. Koutsis, M. Panas, G. Karadima, 2009, Multiple sclerosis.

Friedreich's ataxia mimicking hereditary motor and sensory neuropathy

M. Panas, G. Karadima, D. Vassilopoulos, 2002, Journal of Neurology.

Charcot-Marie-Tooth disease type 1A with central nervous system involvement in two generations

M. Panas, G. Karadima, D. Vassilopoulos, 2004, Journal of Neurology.

Reevaluation of the CMT1A duplication frequency in Greek Charcot‐Marie‐Tooth type 1 patients

G. Koutsis, M. Panas, G. Karadima, 2014, Clinical genetics.

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

P. Holmans, S. Tabrizi, A. Durr, 2016, Annals of neurology.

Association of 5-HTTLPR Polymorphism with the Nursing Diagnoses and the Achievement of Nursing Outcomes in Patients with Major Depression

G. Karadima, E. Koukia, P. Constantoulakis, 2017, Issues in mental health nursing.

Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion

N. Wood, H. Houlden, M. Sweeney, 2012, Journal of Neurology.

The challenge of juvenile Huntington disease

G. Koutsis, M. Panas, G. Karadima, 2013, Neurology.

G. Koutsis, M. Panas, G. Karadima, 2021, Journal of the peripheral nervous system : JPNS.

Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study

G. Koutsis, G. Karadima, D. Kasselimis, 2021, Neuroradiology.

Association between GABA-A Receptor Alpha 5 Subunit Gene Locus and Schizophrenia of a Later Age of Onset

C. Stefanis, G. Papadimitriou, D. Avramopoulos, 2001, Neuropsychobiology.

Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Patients

V. Kimiskidis, G. Koutsis, G. Karadima, 2021, Brain sciences.

Association between the dopamine D3 receptor gene locus (DRD3) and unipolar affective disorder.

C. Stefanis, G. Papadimitriou, J. Mendlewicz, 1999, Psychiatric genetics.

Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease

G. Koutsis, M. Panas, G. Karadima, 2020, Journal of the International Neuropsychological Society.

APOE ε4 is associated with impaired verbal learning in patients with MS

G. Koutsis, M. Panas, G. Karadima, 2007, Neurology.

Hereditary Spastic Paraplegia in Greece: Characterisation of a previously unexplored population using next generation sequencing

H. Houlden, G. Koutsis, M. Panas, 2015, European Journal of Human Genetics.

A Greek National Cross-Sectional Study on Myotonic Dystrophies

V. Kimiskidis, G. Koutsis, M. Panas, 2022, International journal of molecular sciences.

Complex phenotype in a C9ORF72‐positive patient with high‐titer anti‐glutamic acid decarboxylase antibodies: neuroimmunology meets neurogenetics

G. Koutsis, G. Karadima, E. Papageorgiou, 2019, European journal of neurology.

Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease

I. Blumcke, N. Wood, L. Chávez-Gutiérrez, 2021, Alzheimer's & dementia.

Investigation of a cluster of children with Down's syndrome born to mothers who had attended a school in Dundalk, Ireland

G. Karadima, M. Petersen, M. Mikkelsen, 2000, Occupational and environmental medicine.

Co-segregation of Huntington Disease and Hereditary Spastic Paraplegia in 4 Generations

M. Panas, G. Karadima, D. Vassilopoulos, 2011, The neurologist.

A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.

S. Efthymiou, R. Maroofian, H. Houlden, 2020, Brain : a journal of neurology.

Apolipoprotein E and presenilin-1 genotypes in Huntington’s disease

D. Avramopoulos, M. Panas, G. Karadima, 1999, Journal of Neurology.

A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings

G. Koutsis, M. Panas, G. Karadima, 2015, Journal of the Neurological Sciences.

Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.

G. Koutsis, M. Panas, G. Karadima, 2022, Parkinsonism & related disorders.

The different faces of the p. A53T alpha-synuclein mutation: A screening of Greek patients with parkinsonism and/or dementia

G. Koutsis, M. Panas, G. Karadima, 2017, Neuroscience Letters.

Spinobulbar muscular atrophy (Kennedy's disease): A rare diagnosis in the Greek population

G. Koutsis, M. Panas, G. Karadima, 2015, Journal of the Neurological Sciences.

Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort

G. Koutsis, M. Panas, G. Karadima, 2018, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia

G. Koutsis, G. Karadima, E. Anagnostou, 2021, Clinical Genetics.

Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective

N. Wood, H. Houlden, G. Koutsis, 2014, Journal of the Neurological Sciences.

Elevated Serum α-Synuclein Levels in Huntington’s Disease Patients

G. Koutsis, M. Panas, G. Karadima, 2020, Neuroscience.

The rs10492972 KIF1B polymorphism and disease progression in Greek patients with multiple sclerosis

G. Koutsis, M. Panas, G. Karadima, 2011, Journal of Neurology.

Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot–Marie–Tooth type 1 patients

H. Houlden, G. Koutsis, A. Pandraud, 2012, Clinical genetics.

Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach

G. Koutsis, G. Karadima, M. Breza, 2020, Journal of Medical Genetics.

Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot‐Marie‐Tooth disease reveals a varied and unusual phenotypic spectrum

G. Koutsis, M. Panas, G. Karadima, 2019, Journal of the peripheral nervous system : JPNS.

APOE epsilon4 is associated with impaired verbal learning in patients with MS.

G. Koutsis, M. Panas, G. Karadima, 2007, Neurology.

Disentangling balance impairments in spinal and bulbar muscular atrophy

G. Karadima, E. Anagnostou, A. Kladi, 2019, Neuroscience Letters.

Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country

M. Dimopoulos, E. Oikonomou, K. Kleopa, 2021, Neuromuscular Disorders.

Screening for spinocerebellar ataxia type 36 (SCA36) in the Greek population

M. Panas, G. Karadima, G. Koutsis, 2019, Journal of the Neurological Sciences.

GABA-A receptor beta3 and alpha5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: a genetic association study.

C. Stefanis, G. Papadimitriou, D. Avramopoulos, 2001, American journal of medical genetics.

C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population

G. Koutsis, M. Panas, G. Karadima, 2015, Neurobiology of Aging.

Mutational screening of Greek patients with axonal Charcot‐Marie‐Tooth disease using targeted next‐generation sequencing: Clinical and molecular spectrum delineation

G. Koutsis, M. Panas, G. Karadima, 2023, Journal of the peripheral nervous system : JPNS.

Age at onset in Huntington's disease: replication study on the association of HAP1.

G. Koutsis, M. Panas, G. Karadima, 2012, Parkinsonism & related disorders.