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Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective

Frontiers in neurology, 2023-05, Vol.14, p.1095134-1095134

2023

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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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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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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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Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK

PloS one, 2015-04, Vol.10 (4), p.e0123546-e0123546

2015

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Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

Genes, 2020-06, Vol.11 (7), p.716

2020

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Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

Neuromuscular disorders : NMD, 2020-04, Vol.30 (4), p.310-314

2020

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Correlations between radiographic spinopelvic parameters and health-related quality of life: A prospective evaluation of 37 patients with facioscapulohumeral muscular dystrophy

Clinical neurology and neurosurgery, 2020-11, Vol.198, p.106137-106137, Article 106137

2020

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Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.210-210, Article 210

2023

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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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Pulmonary functions and sleep-related breathing disorders in lipid storage disease

Sleep & breathing, 2018-12, Vol.22 (4), p.1137-1142

2018

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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Skeletal muscle, 2018-07, Vol.8 (1), p.23-23, Article 23

2018

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Myasthenia gravis with clinical facilitation: a case series

Neurological sciences and neurophysiology, 2018-12, Vol.35 (4), p.193-197

2018

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Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy

Journal of the peripheral nervous system, 2023-09, Vol.28 (3), p.351-358

2023

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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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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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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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Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis

International journal of molecular sciences, 2022-10, Vol.23 (19), p.12020

2022

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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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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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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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Cognition of the mothers of patients with Duchenne muscular dystrophy

Muscle & nerve, 2020-12, Vol.62 (6), p.710-716

2020

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Diaphragmatic dysfunction at the first visit to a chest diseases outpatient clinic in 500 patients with amyotrophic lateral sclerosis

Muscle & nerve, 2021-05, Vol.63 (5), p.683-689

2021

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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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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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Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective

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

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

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

Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

Correlations between radiographic spinopelvic parameters and health-related quality of life: A prospective evaluation of 37 patients with facioscapulohumeral muscular dystrophy

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

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

Pulmonary functions and sleep-related breathing disorders in lipid storage disease

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Myasthenia gravis with clinical facilitation: a case series

Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy

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

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

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

Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis

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

An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis

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

Cognition of the mothers of patients with Duchenne muscular dystrophy

Diaphragmatic dysfunction at the first visit to a chest diseases outpatient clinic in 500 patients with amyotrophic lateral sclerosis

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

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

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