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Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study

Neuromuscular disorders : NMD, 2022-09, Vol.32 (9), p.718-727

2022

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Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis

Clinical immunology (Orlando, Fla.), 2016-05, Vol.166-167, p.81-88

2016

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A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID

Journal of human genetics, 2019-11, Vol.64 (11), p.1141-1144

2019

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In vitro modulation of T cells in myasthenia gravis by low-dose IL-2

European journal of immunology, 2024-09, p.e2451268

2024

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Thymic gene expression analysis reveals a potential link between HIF-1A and Th17/Treg imbalance in thymoma associated myasthenia gravis

Journal of neuroinflammation, 2024-05, Vol.21 (1), p.126-10, Article 126

2024

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Muscle magnetic resonance imaging in spinal muscular atrophy type 3: Selective and progressive involvement

Muscle & nerve, 2017-05, Vol.55 (5), p.651-656

2017

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An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis

Acta neurologica Scandinavica, 2021-12, Vol.144 (6), p.640-646

2021

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Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy

JAMA : the journal of the American Medical Association, 2023-10, Vol.330 (15), p.1448

2023

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CD4 + T Cells of Myasthenia Gravis Patients Are Characterized by Increased IL-21, IL-4, and IL-17A Productions and Higher Presence of PD-1 and ICOS

Frontiers in immunology, 2020-05, Vol.11, p.809-809

2020

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Regulatory function of CD4+ CD25++ T cells in patients with myasthenia gravis is associated with phenotypic changes and STAT5 signaling: 1,25-Dihydroxyvitamin D3 modulates the suppressor activity

Journal of neuroimmunology, 2015-04, Vol.281, p.51-60

2015

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Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy

Proceedings of the National Academy of Sciences - PNAS, 2021-03, Vol.118 (10), p.1-12

2021

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A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2023-08, Vol.24 (5-6), p.535-538

2023

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Disease activity in chronic inflammatory demyelinating polyneuropathy: A comparative study of clinical and skin biopsy markers

Muscle & nerve, 2022-12, Vol.66 (6), p.736-743

2022

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Volumetric differences suggest involvement of cerebellum and brainstem in chronic migraine

Cephalalgia, 2016-04, Vol.36 (4), p.301-308

2016

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Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3)

Neurological sciences, 2021-09, Vol.42 (9), p.3871-3878

2021

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Nature genetics, 2004-05, Vol.36 (5), p.449-451

2004

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A multicentric study of the disease risks and first manifestations in Hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosis

Amyloid, 2023-07, Vol.ahead-of-print (ahead-of-print), p.1-8

2023

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Familial Amyloid Polyneuropathy

Archives of Neuropsychiatry, 2019-06, Vol.56 (2), p.150-156

2019

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Pembrolizumab-induced peripheral nervous system damage: A combination of myositis/myasthenia overlap syndrome and motor axonal polyneuropathy

Ideggyógyászati szemle, 2023, Vol.76 (11-12), p.422-426

2023

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Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey

Neuromuscular disorders : NMD, 2016-07, Vol.26 (7), p.441-446

2016

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B cells produce less IL-10, IL-6 and TNF-α in myasthenia gravis

Autoimmunity (Chur, Switzerland), 2015-06, Vol.48 (4), p.201-207

2015

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European consensus table on the use of botulinum toxin type A in adult spasticity

Journal of rehabilitation medicine, 2009-01, Vol.41 (1), p.13-25

2009

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The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey

PloS one, 2014-08, Vol.9 (8), p.e104760-e104760

2014

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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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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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Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study

Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis

A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID

In vitro modulation of T cells in myasthenia gravis by low-dose IL-2

Thymic gene expression analysis reveals a potential link between HIF-1A and Th17/Treg imbalance in thymoma associated myasthenia gravis

Muscle magnetic resonance imaging in spinal muscular atrophy type 3: Selective and progressive involvement

An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis

Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy

CD4 + T Cells of Myasthenia Gravis Patients Are Characterized by Increased IL-21, IL-4, and IL-17A Productions and Higher Presence of PD-1 and ICOS

Regulatory function of CD4+ CD25++ T cells in patients with myasthenia gravis is associated with phenotypic changes and STAT5 signaling: 1,25-Dihydroxyvitamin D3 modulates the suppressor activity

Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy

A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia

Disease activity in chronic inflammatory demyelinating polyneuropathy: A comparative study of clinical and skin biopsy markers

Volumetric differences suggest involvement of cerebellum and brainstem in chronic migraine

Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3)

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

A multicentric study of the disease risks and first manifestations in Hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosis

Familial Amyloid Polyneuropathy

Pembrolizumab-induced peripheral nervous system damage: A combination of myositis/myasthenia overlap syndrome and motor axonal polyneuropathy

Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey

B cells produce less IL-10, IL-6 and TNF-α in myasthenia gravis

European consensus table on the use of botulinum toxin type A in adult spasticity

The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey

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

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

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