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Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages

Balkan medical journal, 2022-01, Vol.39 (1), p.3-11

2022

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Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

American journal of human genetics, 2022-03, Vol.109 (3), p.518-532

2022

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Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia

Cells (Basel, Switzerland), 2022-09, Vol.11 (18), p.2804

2022

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Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder

Acta neurologica Scandinavica, 2022-05, Vol.145 (5), p.619-626

2022

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Identification and Characterization of Novel Founder Mutations in NDRG1 : Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria

International journal of molecular sciences, 2024-08, Vol.25 (16), p.9047

2024

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The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype

Neurogenetics, 2020, Vol.21 (1), p.73-78

2020

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Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features

Acta neurologica Belgica, 2022-08, Vol.122 (4), p.939-945

2022

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Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort

Neurology. Genetics, 2021-10, Vol.7 (5), p.e621-e621

2021

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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Brain (London, England : 1878), 2017-08, Vol.140 (8), p.2093-2103

2017

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Single Center Experience of SORD Neuropathy in Turkey (P1-1.Virtual)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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Central Nervous System Involvement in HINT1 Neuropathy: An Overlooked Phenotypical Feature? (P8-13.001)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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Distinct Genetic Distribution of Distal Hereditary Motor Neuropathy in Turkey: A Single Centre Experience (P2-11.009)

Neurology, 2024-04, Vol.102 (17_supplement_1)

2024

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Genotypic And Phenotypic Features of Patients with GJB1 Mutations: Single Center Experience (P11-8.003)

Neurology, 2023-04, Vol.100 (17_supplement_2)

2023

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Autosomal Recessive Charcot-Marie-Tooth Disease in Turkey (P3.4-034)

Neurology, 2019-04, Vol.92 (15_supplement)

2019

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Clinical and Genetic Features in X-Linked Charcot-Marie-Tooth Neuropathy (CMT-X) Patients from Turkey (P1.451)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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CHARCOT-MARIE-TOOTH DISEASE IN TURKEY: CLINICAL AND GENETIC FINDINGS FROM A SINGLE-CENTRE EXPERIENCE (P5.134)

Neurology, 2017-04, Vol.88 (16_supplement)

2017

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Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort

Neurology. Genetics, 2022-02, Vol.8 (1), p.e656-e656

2022

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Evaluation techniques

Nanobiomaterials Science, Development and Evaluation, 2017

2017

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11 - Evaluation techniques

Nanobiomaterials Science, Development and Evaluation, 2017, p.211-232

2017

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Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder

Identification and Characterization of Novel Founder Mutations in NDRG1 : Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria

The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features

Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Single Center Experience of SORD Neuropathy in Turkey (P1-1.Virtual)

Central Nervous System Involvement in HINT1 Neuropathy: An Overlooked Phenotypical Feature? (P8-13.001)

Distinct Genetic Distribution of Distal Hereditary Motor Neuropathy in Turkey: A Single Centre Experience (P2-11.009)

Genotypic And Phenotypic Features of Patients with GJB1 Mutations: Single Center Experience (P11-8.003)

Autosomal Recessive Charcot-Marie-Tooth Disease in Turkey (P3.4-034)

Clinical and Genetic Features in X-Linked Charcot-Marie-Tooth Neuropathy (CMT-X) Patients from Turkey (P1.451)

CHARCOT-MARIE-TOOTH DISEASE IN TURKEY: CLINICAL AND GENETIC FINDINGS FROM A SINGLE-CENTRE EXPERIENCE (P5.134)

Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort

Evaluation techniques

11 - Evaluation techniques

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