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Replication study of GWAS risk loci in Greek multiple sclerosis patients.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Apolipoprotein E polymorphism in the Greek population.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 4, p. 216, doi. 10.1111/j.1399-0004.1997.tb02550.x
- By:
- Publication type:
- Article
A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
- Published in:
- 2020
- By:
- Publication type:
- Letter
A Greek National Cross-Sectional Study on Myotonic Dystrophies.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15507, doi. 10.3390/ijms232415507
- By:
- Publication type:
- Article
Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.
- Published in:
- Neuroradiology, 2022, v. 64, n. 3, p. 543, doi. 10.1007/s00234-021-02730-x
- By:
- Publication type:
- Article
Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.
- Published in:
- Journal of the International Neuropsychological Society, 2020, v. 26, n. 3, p. 294, doi. 10.1017/S1355617719001188
- By:
- Publication type:
- Article
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.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2841, doi. 10.1002/ajmg.a.34259
- By:
- Publication type:
- Article
Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement.
- Published in:
- Case Reports in Neurological Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/841897
- By:
- Publication type:
- Article
From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17.
- Published in:
- Case Reports in Neurological Medicine, 2014, p. 1, doi. 10.1155/2014/643289
- By:
- Publication type:
- Article
New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
- Published in:
- Muscle & Nerve, 2007, v. 35, n. 5, p. 667, doi. 10.1002/mus.20703
- By:
- Publication type:
- Article
Symptomatic striopallidodentate calcinosis (Fahr's syndrome) in a thalassemic patient with hypoparathyroidism.
- Published in:
- 2015
- By:
- Publication type:
- Letter
APOE genotypes in Greek multiple sclerosis patients: no effect on the MS Severity Score.
- Published in:
- Journal of Neurology, 2007, v. 254, n. 3, p. 394, doi. 10.1007/s00415-006-0375-9
- By:
- Publication type:
- Article
A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 2, p. 222, doi. 10.1007/s00415-004-0284-8
- By:
- Publication type:
- Article
Friedreich's ataxia mimicking hereditary motor and sensory neuropathy.
- Published in:
- Journal of Neurology, 2002, v. 249, n. 11, p. 1583, doi. 10.1007/s00415-002-0902-2
- By:
- Publication type:
- Article
Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis.
- Published in:
- Journal of Neurology, 2000, v. 247, n. 12, p. 940, doi. 10.1007/s004150070050
- By:
- Publication type:
- Article
Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Patients.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 9, p. 1239, doi. 10.3390/brainsci11091239
- By:
- Publication type:
- Article
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 432, doi. 10.1038/sj.ejhg.5200212
- By:
- Publication type:
- Article
Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e217, doi. 10.1093/brain/aws034
- By:
- Publication type:
- Article
The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 4, p. 446, doi. 10.1111/cge.14482
- By:
- Publication type:
- Article
Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 1, p. 90, doi. 10.1111/cge.13960
- By:
- Publication type:
- Article
Transthyretin (Pro24Ser) variant amyloidosis: A case report of the first patient in Greece.
- Published in:
- Hellenic Journal of Nuclear Medicine, 2023, v. 26, n. 2, p. 145
- By:
- Publication type:
- Article
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.
- Published in:
- 2015
- By:
- Publication type:
- Erratum
The rs10492972 KIF1B polymorphism and disease progression in Greek patients with multiple sclerosis.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson’s Disease.
- Published in:
- Movement Disorders, 2024, v. 39, n. 4, p. 715, doi. 10.1002/mds.29739
- By:
- Publication type:
- Article
Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, v. 13, n. 1, p. 1, doi. 10.1002/dad2.12186
- By:
- Publication type:
- Article
Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Association between GABA-A Receptor Alpha 5 Subunit Gene Locus and Schizophrenia of a Later Age of Onset.
- Published in:
- Neuropsychobiology, 2001, v. 43, n. 3, p. 141, doi. 10.1159/000054882
- By:
- Publication type:
- Article
Hereditary Neuropathy Unmasked by Levofloxacin.
- Published in:
- Annals of Pharmacotherapy, 2011, v. 45, n. 10, p. 1312, doi. 10.1345/aph.1P786
- By:
- Publication type:
- Article
Mutational screening of Greek patients with axonal Charcot‐Marie‐Tooth disease using targeted next‐generation sequencing: Clinical and molecular spectrum delineation.
- Published in:
- Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 642, doi. 10.1111/jns.12598
- By:
- Publication type:
- Article
HINT1‐related neuropathy in Greek patients with Charcot‐Marie‐Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2021, v. 26, n. 4, p. 444, doi. 10.1111/jns.12473
- By:
- Publication type:
- Article
Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot‐Marie‐Tooth disease reveals a varied and unusual phenotypic spectrum.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 1, p. 125, doi. 10.1111/jns.12305
- By:
- Publication type:
- Article
Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies ( HNPP): a 15-year experience.
- Published in:
- Journal of the Peripheral Nervous System, 2015, v. 20, n. 2, p. 79, doi. 10.1111/jns.12125
- By:
- Publication type:
- Article
Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 8, p. 1221, doi. 10.1093/hmg/7.8.1221
- By:
- Publication type:
- Article
Characterization of Susceptible Chiasma Configurations that Increase the Risk for Maternal Nondisjunction of Chromosome 21.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1391, doi. 10.1093/hmg/6.9.1391
- By:
- Publication type:
- Article