Prof.Dr. Fatma Yeşim PARMAN

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Disease activity in chronic inflammatory demyelinating polyneuropathy: association between circulating B-cell subsets, cytokine levels, and clinical outcomes.

Ozdag Acarli A. N., Tuzun E., Sanli E., Koral G., Akbayir E., Cakar A., et al.

Clinical and experimental immunology , cilt.215, sa.1, ss.65-78, 2024 (SCI-Expanded)

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Lischka A., Eggermann K., Record C. J., Dohrn M. F., Laššuthová P., Kraft F., et al.

Brain : a journal of neurology , 2023 (SCI-Expanded)

Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy

Coelho T., Marques W., Dasgupta N. R., Chao C., PARMAN F. Y., Franca M. C., et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION , 2023 (SCI-Expanded)

Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy

Çakar A., Bagırova G., Durmuş H., Uyguner O., Parman Y.

Journal of the Peripheral Nervous System , cilt.28, sa.3, ss.351-358, 2023 (SCI-Expanded)

Thymoma patients with or without myasthenia gravis have increased Th17 cells, IL-17 production and ICOS expression

Cebi M., Cakar A., Erdogdu E., Durmus-Tekce H., Yegen G., Ozkan B., et al.

JOURNAL OF NEUROIMMUNOLOGY , 2023 (SCI-Expanded)

Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen

Coelho T., Cruz M. W., Chao C., Parman Y., Wixner J., Weiler M., et al.

NEUROLOGY AND THERAPY , cilt.12, sa.1, ss.267-287, 2023 (SCI-Expanded)

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

Çakar A., Pekbilir E., CEYLANER S., Durmuş H., Battaloğlu E., Şahin U., et al.

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration , cilt.24, sa.5-6, ss.535-538, 2023 (SCI-Expanded)

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

Planté-Bordeneuve V., Gorram F., Olsson M., Anan I., Mazzeo A., Gentile L., et al.

Amyloid , cilt.30, sa.3, ss.313-320, 2023 (SCI-Expanded)

Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update

Dispenzieri A., Coelho T., Conceição I., Waddington-Cruz M., Wixner J., Kristen A. V., et al.

Orphanet Journal of Rare Diseases , cilt.17, sa.1, 2022 (SCI-Expanded)

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

Acarli A. N. O., Unverengil G., Sirin N. G., Cakar A., Durmus H., Parman Y.

MUSCLE & NERVE , cilt.66, sa.6, ss.736-743, 2022 (SCI-Expanded)

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

Yunisova G., CEYLANER S., Oflazer P., Deymeer F., Parman Y. G., Durmus H.

Neuromuscular disorders : NMD , cilt.32, sa.9, ss.718-727, 2022 (SCI-Expanded)

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

ÇAKAR A., Sahin E., Tezel S., Candayan A., Samanci B., BATTALOĞLU E., et al.

ACTA NEUROLOGICA BELGICA , cilt.122, sa.4, ss.939-945, 2022 (SCI-Expanded)

NOVEL VARIANTS BROADEN THE MUTATIONAL SPECTRUM OF HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DISORDERS

Lischka A., Eggermann K., Cakar A., Record C., Elbracht M., Hornemann T., et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM , cilt.27, 2022 (SCI-Expanded)

CHARACTERISTICS OF PATIENTS WITH HEREDITARY TRANSTHYRETIN AMYLOIDOSIS-POLYNEUROPATHY (ATTRV PN) IN NEURO-TTRANSFORM, A PHASE 3 STUDY OF EPLONTERSEN

Cruz M. W., Barroso F., Berk J., Chao C., Dasgupta N., Dyck P. J. B., et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM , cilt.27, 2022 (SCI-Expanded)

AN EXPLORATORY STUDY OF COGNITIVE INVOLVEMENT IN HEREDITARY ATTRV

Durmus H., Cakar A., Demirci H., Parman Y.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM , cilt.27, 2022 (SCI-Expanded)

Genetic pain loss disorders

Lischka A., Lassuthova P., cakar A., Record C. J., Van Lent J., Baets J., et al.

NATURE REVIEWS DISEASE PRIMERS , cilt.8, sa.1, 2022 (SCI-Expanded)

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

Cakar A., Inci M., Acarli A. N. O., Comu S., Candayan A., BATTALOĞLU E., et al.

ACTA NEUROLOGICA SCANDINAVICA , cilt.145, ss.619-626, 2022 (SCI-Expanded)

Genetics of Pain: Novel variants identified by the European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (ENISNIP)

Lischka A., Eggermann K., Cakar A., Bocek R., Bartesaghi L., Elbracht M., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.30, sa.SUPPL 1, ss.128, 2022 (SCI-Expanded)

Screening of SORD mutations in a CMT cohort expands the clinical spectrum of SORD-related neuropathy

Armirola-Ricaurte C., de Vriendt E., Candayan A., Asenov O., Parman Y., Chamova T., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.30, sa.SUPPL 1, ss.309-310, 2022 (SCI-Expanded)

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

Kurolap A., Kreuder F., Gonzaga-Jauregui C., Duvdevani M. P., Harel T., Tammer L., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.109, sa.3, ss.518-532, 2022 (SCI-Expanded)

Lumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis

Cakar A., Atmaca M. M., Kotan D., Durmus H., Deymeer F., Oflazer P., et al.

NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY , cilt.59, sa.1, ss.77-79, 2022 (SCI-Expanded)

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

Candayan A., Parman Y., BATTALOĞLU E.

BALKAN MEDICAL JOURNAL , cilt.39, sa.1, ss.3-11, 2022 (SCI-Expanded)

An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis

Durmus H., Cakar A., Demirci H., ALAYLIOĞLU M., GEZEN AK D., DURSUN E., et al.

ACTA NEUROLOGICA SCANDINAVICA , cilt.144, sa.6, ss.640-646, 2021 (SCI-Expanded)

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

Candayan A., Çakar A., Yunisova G., Özdağ Acarlı A. N., Atkinson D., Topaloğlu P., et al.

NEUROLOGY-GENETICS , cilt.7, sa.5, 2021 (SCI-Expanded)

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (Canvas) is an important cause of late-onset ataxia

Cakar A., Sahin E., Tezel S., Candayan A., Samanci B., BATTALOĞLU E., et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM , cilt.26, sa.3, ss.364, 2021 (SCI-Expanded)

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

Durmus H., Mertoglu E., Sticht H., Ceylaner S., Kulaksizoglu I. B., Hashemolhosseini S., et al.

NEUROLOGICAL SCIENCES , cilt.42, sa.9, ss.3871-3878, 2021 (SCI-Expanded)

Screening of SORD mutations in a CMT cohort expands the clinical spectrum of SORD-related neuropathy

Armirola-Ricaurte C., De Vriendt E., Candayan A., Asenov O., Parman Y., Chamova T., et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM , cilt.26, sa.3, ss.426, 2021 (SCI-Expanded)

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

Vural A., Simsir G., Tekgul S., Kocoglu C., Akcimen F., Kartal E., et al.

MOVEMENT DISORDERS , cilt.36, ss.1676-1688, 2021 (SCI-Expanded)

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

Pihtili A., Bingol Z., Durmus H., Parman Y., Kiyan E.

MUSCLE & NERVE , cilt.63, ss.683-689, 2021 (SCI-Expanded)

Late-onset TK2-Deficiency Patients from Turkey

DURMUŞ TEKÇE H., ÇAKAR A., PARMAN F. Y.

NEUROLOGY , sa.15, 2021 (SCI-Expanded)

SOD1 Mutation: A Single Center Experience

ÇAKAR A., DURMUŞ TEKÇE H., PARMAN F. Y.

NEUROLOGY , sa.15, 2021 (SCI-Expanded)

Genotypic and phenotypic features of mutations in the HINT1 gene among Turkish patients with hereditary axonal neuropathy

Acarli A. O., Cakar A., Candayan A., Durmus H., Ceylaner S., Matur Z., et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM , cilt.26, sa.1, ss.124-125, 2021 (SCI-Expanded)

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

Guerrero-Valero M., Grandi F., Cipriani S., Alberizzi V., Di Guardo R., Chicanne G., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.118, sa.10, 2021 (SCI-Expanded)

The treatment effect on peripheral B cell markers in antibody positive myasthenia gravis patients

YILMAZ V., TÜZÜN E., DURMUŞ TEKÇE H., Oflazer P., Aysal F., Parman Y., et al.

JOURNAL OF NEUROIMMUNOLOGY , cilt.349, 2020 (SCI-Expanded)

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

Bayram S., Kendirci A. Ş., Karalar Ş., Durmuş Tekçe H., Parman F. Y., Akgül T., et al.

Clinical Neurology and Neurosurgery , cilt.198, 2020 (SCI-Expanded)

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

Tunca C., Seker T., Akcimen F., Coskun C., Bayraktar E., Palvadeau R., et al.

HUMAN MUTATION , cilt.41, sa.8, 2020 (SCI-Expanded)

Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey

Akcakaya N. H., Ak B. O., Gonzalez M. A., Zuchner S., BATTALOĞLU E., Parman Y.

NEUROLOGIA I NEUROCHIRURGIA POLSKA , cilt.54, sa.2, ss.176-184, 2020 (SCI-Expanded)

A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of symptoms

Sahin E., Cakar A., Durmus-Tekce H., Parman Y.

ACTA NEUROLOGICA BELGICA , cilt.119, sa.4, ss.627-628, 2019 (SCI-Expanded)

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

Akcimen F., Vural A., Durmus H., Cakar A., Houlden H., Parman Y. G., et al.

Journal of human genetics , cilt.64, sa.11, ss.1141-1144, 2019 (SCI-Expanded)

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

Candayan A., Yunisova G., Cakar A., Durmus H., Basak A. N., Parman Y., et al.

NEUROGENETICS , 2019 (SCI-Expanded)

Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling

Toksoy G., Durmus H., Aghayev A., Bagirova G., Rustemoglu B. S., Basaran S., et al.

NEUROMUSCULAR DISORDERS , sa.8, ss.601-613, 2019 (SCI-Expanded) Sürdürülebilir Kalkınma

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Tey S., Shahrizaila N., Drew A. P., Samulong S., Goh K., BATTALOĞLU E., et al.

NEUROGENETICS , cilt.20, sa.3, ss.117-127, 2019 (SCI-Expanded)

Assessment of patients with hereditary transthyretin amyloidosis - understanding the impact of management and disease progression

Conceicao I., Coelho T., Rapezzi C., Parman Y., Obici L., Galan L., et al.

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS , cilt.26, sa.3, ss.103-111, 2019 (SCI-Expanded)

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

Pareyson D., Stojkovic T., Reilly M. M., Leonard-Louis S., Laura M., Blake J., et al.

ANNALS OF NEUROLOGY , cilt.86, sa.1, ss.55-67, 2019 (SCI-Expanded)

Familial Amyloid Polyneuropathy

Cakar A., Durmus-Tekce H., Parman Y.

NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY , cilt.56, sa.2, ss.150-156, 2019 (SCI-Expanded)

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

Adams D., Gonzalez-Duarte A., O'Riordan W. D., Yang C. -., Ueda M., Kristen A. V., et al.

NEW ENGLAND JOURNAL OF MEDICINE , cilt.379, sa.1, ss.11-21, 2018 (SCI-Expanded)

Turkish version of the Motor Function Measure Scale (MFM-32) forneuromuscular diseases: a cross-cultural adaptation, reliability, and validity study

Inal H. S., Tarakci E., Tarakci D., Aksoy G., Mergen Kilic S., Beser H., et al.

Turkish journal of medical sciences , cilt.47, sa.6, ss.1826-1833, 2017 (SCI-Expanded)

Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease

Inal-Gultekin G., Toptas-Hekimoglu B., Gormez Z., Gelisin O., Durmus H., ERGUNER B., et al.

NEUROMUSCULAR DISORDERS , cilt.27, sa.11, ss.997-1008, 2017 (SCI-Expanded)

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

Ylikallio E., Woldegebriel R., Tumiati M., Isohanni P., Ryan M. M., Stark Z., et al.

BRAIN , cilt.140, ss.2093-2103, 2017 (SCI-Expanded)

Elevated IL-4 and IFN-γ Levels in Muscle Tissue of Patients with Dermatomyositis

Giris M., Durmus H., Yetimler B., Tasli H., Parman Y., Tuzun E.

IN VIVO , sa.4, ss.657-660, 2017 (SCI-Expanded)

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

van Rheenen W., Shatunov A., Dekker A. M., McLaughlin R. L., Diekstra F. P., Pulit S. L., et al.

NATURE GENETICS , cilt.48, sa.9, ss.1043-1050, 2016 (SCI-Expanded)

Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice

Durmus H., Ayhan O., CIRAK S., Deymeer F., Parman Y., FRANKE A., et al.

NEUROLOGY , sa.8, ss.799-805, 2016 (SCI-Expanded)

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

Durmus-Tekce H., MATUR Z., Atmaca M. M., Poda M., Cakar A., ULAS U. H., et al.

Neuromuscular disorders : NMD , cilt.26, sa.7, ss.441-6, 2016 (SCI-Expanded)

Volumetric differences suggest involvement of cerebellum and brainstem in chronic migraine

Bilgic B., Kocaman G., Arslan A. B., Noyan H., Sherifov R., Alkan A., et al.

CEPHALALGIA , cilt.36, sa.4, ss.301-308, 2016 (SCI-Expanded)

Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP

Parman Y., ADAMS D., OBICI L., GALAN L., GUERGUELTCHEVA V., Suhr O. B., et al.

CURRENT OPINION IN NEUROLOGY , cilt.29, 2016 (SCI-Expanded)

Optimizing the management of transthyretin familial amyloid polyneuropathy in Europe: early diagnosis and effective care.

ADAMS D., European N.

Current opinion in neurology , 2016 (SCI-Expanded)

Vocal Cord Paralysis and Hypercapnic Respiratory Failure in a Patient with Familial Amyloidotic Polyneuropathy

PIHTILI A., Bingol Z., Durmus H., Parman Y., Kiyan E.

INTERNAL MEDICINE , sa.13, ss.1783-1786, 2016 (SCI-Expanded)

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

GONZAGA-JAUREGUI C., HAREL T., GAMBIN T., Kousi M., GRIFFIN L. B., Francescatto L., et al.

CELL REPORTS , cilt.12, sa.7, ss.1169-1183, 2015 (SCI-Expanded)

Transcriptional regulator PRDM12 is essential for human pain perception

Chen Y., Auer-Grumbach M., MATSUKAWA S., ZITZELSBERGER M., Themistocleous A. C., STROM T. M., et al.

NATURE GENETICS , cilt.47, sa.7, ss.803-811, 2015 (SCI-Expanded)

Differential cytokine changes in patients with myasthenia gravis with antibodies against AChR and MuSK

Yilmaz V., Oflazer P., AYSAL F., Durmus H., Poulas K., Yentur S. P., et al.

PLoS ONE , cilt.10, sa.4, 2015 (SCI-Expanded)

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.

Alahgholi-Hajibehzad M., Oflazer P., Aysal F., Durmus H., Gulsen-Parman Y., MARX A., et al.

Journal of neuroimmunology , cilt.281, ss.51-60, 2015 (SCI-Expanded)

The distinct genetic pattern of ALS in Turkey and novel mutations

Ozoguz A., Uyan O., Birdal G., Iskender C., Kartal E., Lahut S., et al.

Neurobiology of Aging , cilt.36, sa.4, 2015 (SCI-Expanded)

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

Alahgholi-Hajibehzad M., OFLAZER Z. P., Aysal F., PARMAN F. Y., DURMUŞ TEKÇE H., Marx A., et al.

JOURNAL OF NEUROIMMUNOLOGY , cilt.281, ss.51-60, 2015 (SCI-Expanded)

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

Caglayan A. O., COMU S., Baranoski J. F., Parman Y., Kaymakcalan H., Akgumus G. T., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.58, sa.1, ss.39-43, 2015 (SCI-Expanded)

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

Yilmaz V., Oflazer P., AYSAL F., Parman Y. G., Direskeneli H., Deymeer F., et al.

Autoimmunity , cilt.48, sa.4, ss.201-207, 2015 (SCI-Expanded)

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

ZIMON M., Battaloglu E., Parman Y., Erdem S., Baets J., DE VRIENDT E., et al.

NEUROGENETICS , cilt.16, sa.1, ss.33-42, 2015 (SCI-Expanded)

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

YAMAMOTO S., JAISWAL M., CHARNG W., GAMBIN T., KARACA E., Mirzaa G., et al.

CELL , cilt.159, sa.1, ss.200-214, 2014 (SCI-Expanded) Sürdürülebilir Kalkınma

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

Kaya G., Coskun A. N., Yilmaz V., Oflazer P., Gulsen-Parman Y., AYSAL F., et al.

PLoS ONE , cilt.9, sa.8, 2014 (SCI-Expanded)

BLOOD-BASED DIAGNOSTIC TESTING FOR POMPE DISEASE: CONSISTENCY BETWEEN GAA ENZYME ACTIVITY IN DRIED BLOOD SPOTS AND GAA GENE SEQUENCING RESULTS

AYDINLAR E., Rolfs A., SERTESER M., Parman Y.

MUSCLE & NERVE , cilt.49, sa.5, ss.775-776, 2014 (SCI-Expanded)

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

OKAMOTO Y., Goksungur M. T., Pehlivan D., BECK C. R., GONZAGA-JAUREGUI C., MUZNY D. M., et al.

GENETICS IN MEDICINE , cilt.16, sa.5, ss.386-394, 2014 (SCI-Expanded) Sürdürülebilir Kalkınma

Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family.

Ilgaz A., ROLFS A., SERTESER M., Parman Y.

Muscle & nerve , cilt.49, ss.774-5, 2014 (SCI-Expanded)

Efficiency of Repeated Botulinum Toxin Type-A Injections in Post-Stroke Distal Limb Spasticity

Coban A., Matur Z., Hanagasi H. A., Parman Y.

JOURNAL OF NEUROLOGICAL SCIENCES-TURKISH , cilt.31, sa.1, ss.21-27, 2014 (SCI-Expanded)

Prepubertal anti-Musk positive myasthenia gravis with long remission

Gungor-Tuncer O., Orhan E., Yilmaz V., Parman Y., Oflazer P., Saruhan-Direskeneli G., et al.

Neuromuscular Disorders , cilt.24, sa.1, ss.36-39, 2014 (SCI-Expanded)

Jitter analysis with concentric needle electrode in the masseter muscle for the diagnosis of generalised myasthenia gravis

Orhan E., Deymeer F., Oflazer P., Parman Y., Baslo M. B.

CLINICAL NEUROPHYSIOLOGY , cilt.124, sa.11, ss.2277-2282, 2013 (SCI-Expanded)

**Association of HLA-DRB114, -DRB116 and -DQB1*05 with MuSK-myasthenia gravis in patients from Turkey**

Alahgholi-Hajibehzad M., Yilmaz V., Gulsen-Parman Y., Aysal F., Oflazer P., Deymeer F., et al.

Human Immunology , cilt.74, sa.12, ss.1633-1635, 2013 (SCI-Expanded)

Genome-Wide Copy Number Variation in Sporadic Amyotrophic Lateral Sclerosis in the Turkish Population: Deletion of EPHA3 Is a Possible Protective Factor

Uyan O., Omur O., Agim Z. S., Ozoguz A., Li H., Parman Y., et al.

PLOS ONE , cilt.8, sa.8, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma

Coexistence of Guillain-Barre syndrome and Behcet's disease

Shugaiv E., Kiyat-Atamer A., Tuzun E., Deymeer F., Oflazer P., Parman Y., et al.

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY , sa.3, 2013 (SCI-Expanded)

Recessively transmitted predominantly motor neuropathies

Parman Y., BATTALOĞLU E.

PERIPHERAL NERVE DISORDERS , cilt.115, ss.847-861, 2013 (SCI-Expanded)

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

ZIMON M., Baets J., Almeida-Souza L., DE VRIENDT E., NIKODINOVIC J., Parman Y., et al.

NATURE GENETICS , cilt.44, sa.10, ss.1080-1083, 2012 (SCI-Expanded)

ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population

Lahut S., Omur O., Uyan O., Agim Z. S., Ozoguz A., Parman Y., et al.

PLOS ONE , cilt.7, sa.8, 2012 (SCI-Expanded)

NERVE CONDUCTION STUDIES IN CHARCOT-MARIE-TOOTH DISEASE IN A COHORT FROM TURKEY REPLY

Deymeer F., Matur Z., Poyraz M., Battaloglu E., Oflazer-Serdaroglu P., Parman Y.

MUSCLE & NERVE , cilt.46, sa.2, ss.296, 2012 (SCI-Expanded)

Association of amyotrophic lateral sclerosis and Behcet's disease: is there a relationship? A multi-national case series

MRABET H., BORHANI-HAGHIGHI A., Koseoglu E., Mutlu M., BAYDEMİR R., NAFISSI S., et al.

CLINICAL RHEUMATOLOGY , cilt.31, sa.4, ss.733-738, 2012 (SCI-Expanded)

Increased complement consumption in musk-antibody-positive myasthenia gravis patients

Tuzun E., Yilmaz V., Parman Y., Oflazer P., Deymee F., Saruhan-Direskeneli G.

Medical Principles and Practice , cilt.20, sa.6, ss.581-583, 2011 (SCI-Expanded)

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Baets J., Deconinck T., De Vriendt E., Zimon M., Yperzeele L., Van Hoorenbeeck K., et al.

BRAIN , cilt.134, ss.2664-2676, 2011 (SCI-Expanded)

NERVE CONDUCTION STUDIES IN CHARCOT-MARIE-TOOTH DISEASE IN A COHORT FROM TURKEY

Deymeer F., Matur Z., Poyraz M., Battaloglu E., Oflazer-Serdaroglu P., Parman Y.

MUSCLE & NERVE , cilt.43, sa.5, ss.657-664, 2011 (SCI-Expanded)

Effects of insulin-like growth factor-I and platelet-rich plasma on sciatic nerve crush injury in a rat model

Emel E., Ergun S. S., KOTAN D., Gursoy E. B., Parman Y., Zengin A., et al.

JOURNAL OF NEUROSURGERY , cilt.114, sa.2, ss.522-528, 2011 (SCI-Expanded)

Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients

Durmuş H., LAVAL S. H., Deymeer F., Parman Y., Kiyan E., GOKYIGITI M., et al.

NEUROLOGY , cilt.76, sa.3, ss.227-235, 2011 (SCI-Expanded)

Use of botulinim toxin-A for the treatment of overactive bladder symptoms in patients with Parkinsons's disease

Kulaksizoglu H., Parman Y.

PARKINSONISM & RELATED DISORDERS , cilt.16, sa.8, ss.531-534, 2010 (SCI-Expanded)

Iatrogenic Botulism After Botulinum Toxin Type A Injections

Coban A., Matur Z., Hanagasi H. A., Parman Y.

CLINICAL NEUROPHARMACOLOGY , cilt.33, sa.3, ss.158-160, 2010 (SCI-Expanded)

Sensorimotor neuropathy associated with endometrioid endometrial carcinoma

Durmus H., Tuzun E., Icoz S., Akman-Demir G., Parman Y.

European Journal of Obstetrics and Gynecology and Reproductive Biology , cilt.150, sa.2, ss.216-217, 2010 (SCI-Expanded)

NATURAL HISTORY OF SMA IIIb: MUSCLE STRENGTH DECREASES IN A PREDICTABLE SEQUENCE AND MAGNITUDE Reply

Deymeer F., Serdaroglu P., Parman Y., PODA M.

NEUROLOGY , cilt.72, sa.23, ss.2058, 2009 (SCI-Expanded)

EUROPEAN CONSENSUS TABLE ON THE USE OF BOTULINUM TOXIN TYPE A IN ADULT SPASTICITY

Wissel J., Ward A. B., Erztgaard P., Bensmail D., Hecht M. J., Lejeune T. M., et al.

JOURNAL OF REHABILITATION MEDICINE , cilt.41, sa.1, ss.13-25, 2009 (SCI-Expanded) Sürdürülebilir Kalkınma

B cell regulating activity in patients with myasthenia gravis

Yilmaz V., Oflazer P., Parman Y., Deymeer F., Saruhan-Direskeneli G.

JOURNAL OF NEUROIMMUNOLOGY , cilt.203, sa.2, ss.179, 2008 (SCI-Expanded)

Natural history of SMA IIIb - Muscle strength decreases in a predictable sequence and magnitude

Deymeer F., Serdaroglu P., Parman Y., Poda M.

NEUROLOGY , cilt.71, sa.9, ss.644-649, 2008 (SCI-Expanded)

Videothoracoscopic thymectomy for nonthymomatous myasthenia gravis: Results of 90 patients

Toker A., Tanju S., Sungur Z., Parman Y., Senturk M., Serdaroglu P., et al.

SURGICAL ENDOSCOPY AND OTHER INTERVENTIONAL TECHNIQUES , cilt.22, sa.4, ss.912-916, 2008 (SCI-Expanded)

Cortical excitability in Duchenne muscular dystrophy

Yayla V., Oege A. E., Deymeer F., Gurvit H., Akca-Kalem S., Parman Y., et al.

CLINICAL NEUROPHYSIOLOGY , cilt.119, sa.2, ss.459-465, 2008 (SCI-Expanded)

Hereditary neuropathies

Parman Y.

CURRENT OPINION IN NEUROLOGY , cilt.20, sa.5, ss.542-547, 2007 (SCI-Expanded)

X-linked Charcot-Marie-Tooth disease and multiple sclerosis [4]

PARMAN Y., CIFTCI F., POYRAZ M., HALEFOGLU A. M., Oge A. E., ERAKSOY M., et al.

Journal of Neurology , cilt.254, sa.7, ss.953-955, 2007 (SCI-Expanded)

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

STENDEL C., ROOS A., DECONINCK T., PEREIRA J., CASTAGNER F., NIEMANN A., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.81, sa.1, ss.158-164, 2007 (SCI-Expanded)

Polymorphisms of interferon-γ, interleukin-10, and interleukin-12 genes in myasthenia gravis

Yilmaz V., Tutuncu Y., HASBAL N. B., Parman Y., SERDAROGLU P., Deymeer F., et al.

Human Immunology , cilt.68, sa.6, ss.544-549, 2007 (SCI-Expanded)

Clinical comparison of anti-MuSK- vs anti-AChR-positive and seronegative myasthenia gravis

Deymeer F., GUNGOR-TUNCER O., Yilmaz V., Parman Y., SERDAROGLU P., OZDEMIR C., et al.

Neurology , cilt.68, sa.8, ss.609-611, 2007 (SCI-Expanded)

Decrement pattern in Lambert-Eaton myasthenic syndrome is different from myasthenia gravis

Baslo M. B., Deymeer F., SERDAROGLU P., Parman Y., OZDEMIR C., CUTTINI M.

NEUROMUSCULAR DISORDERS , cilt.16, sa.7, ss.454-458, 2006 (SCI-Expanded)

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

COLOMER J., GOODING R., ANGELICHEVA D., KING R. H. M., GUILLEN-NAVARRO E., Parman Y., et al.

NEUROMUSCULAR DISORDERS , cilt.16, sa.7, ss.449-453, 2006 (SCI-Expanded)

HLA-DQ polymorphism in Turkish patients with myasthenia gravis

Saruhan-Direskeneli G., Kilic A., Parman Y., Serdaroglu P., Deymeer F.

HUMAN IMMUNOLOGY , cilt.67, ss.352-358, 2006 (SCI-Expanded) Sürdürülebilir Kalkınma

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

GOODING R., COLOMER J., KING R., ANGELICHEVA D., MARNS L., Parman Y., et al.

JOURNAL OF MEDICAL GENETICS , cilt.42, sa.12, 2005 (SCI-Expanded)

Fasciculations, Autonomic Symptoms and Limbic Encephalitis: A Thymoma-Assosiated Morvan's-Like Syndrome

Deymeer F., Akça Kalem Ş., Kocaman G., Parman F. Y., Serdaroğlu P., Öktem Tanör Ö., et al.

EUROPEAN NEUROLOGY , cilt.54, sa.4, ss.235-237, 2005 (SCI-Expanded)

Fasciculations, autonomic symptoms and limbic encephalitis: A thymoma-associated Morvan's-like syndrome

Deymeer F., AKCA S., KOCAMAN G., Parman Y., Serdaroglu P., OKTEM-TANOR O., et al.

EUROPEAN NEUROLOGY , cilt.54, sa.4, ss.235-237, 2005 (SCI-Expanded)

Clinicopathological and genetic study of early-onset demyelinating neuropathy

Parman Y., Battaloglu E., Baris I., Bilir B., Poyraz M., Bissar-Tadmouri N., et al.

BRAIN , cilt.127, ss.2540-2550, 2004 (SCI-Expanded)

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene

Bissar-Tadmouri N., Nelis E., Zuchner S., Parman Y., Deymeer F., Serdaroglu P., et al.

NEUROLOGY , cilt.62, sa.9, ss.1522-1525, 2004 (SCI-Expanded)

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

Zuchner S., Mersiyanova I., Muglia M., Bissar-Tadmouri N., Rochelle J., Dadali E., et al.

NATURE GENETICS , cilt.36, sa.5, ss.449-451, 2004 (SCI-Expanded)

Catastrophic secondary antiphospholipid syndrome with peripheral nervous system involvement: A case report

Erten N., Saka B., Karan A., Parman Y., Umman B., Tascioglu C.

ACTA MEDICA OKAYAMA , cilt.58, sa.2, ss.107-110, 2004 (SCI-Expanded)

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

Senderek J., Bergmann C., Stendel C., Kirfel J., Verpoorten N., De Jonghe P., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.73, sa.5, ss.1106-1119, 2003 (SCI-Expanded)

Treatment of writer's cramp with botulinum toxin: Evaluation of 11 patients

Hanagasi H. A., Parman Y., Sahin H., Gurvit H., Yazici J., Emre M.

NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY , cilt.365, 2002 (SCI-Expanded)

The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases

Plante-Bordeneuve V., Parman Y., Guiochon-Mantel A., Alj Y., Deymeer F., Serdaroglu P., et al.

JOURNAL OF NEUROLOGY , cilt.248, sa.9, ss.795-803, 2001 (SCI-Expanded)

Charcot-Marie-Tooth disease associated with Type 2 diabetes mellitus

Celik M., Forta H., Parman Y., Bissar-Tadmouri N., Demirkirkan K., Battaloglu E.

DIABETIC MEDICINE , cilt.18, sa.8, ss.685-686, 2001 (SCI-Expanded) Sürdürülebilir Kalkınma

A case of PAN complicated by nephrotic syndrome after acute hepatitis B

Pamuk G., Pamuk O., Altiparmak M., Senturk H., Parman Y., Minareci O., et al.

CLINICAL RHEUMATOLOGY , cilt.20, sa.5, ss.383-384, 2001 (SCI-Expanded) Sürdürülebilir Kalkınma

Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type I and HNPP patients

Bissar-Tadmouri N., Parman Y., Boutrand L., Deymeer F., Serdaroglu P., Vandenberghe A., et al.

CLINICAL GENETICS , cilt.58, sa.5, ss.396-402, 2000 (SCI-Expanded)

Eye closure related spike and wave discharges: Clinical and syndromic associations

Baykan-Kurt B., Gokyigit A., Parman Y., Kinay D., Gurses C.

CLINICAL ELECTROENCEPHALOGRAPHY , cilt.30, sa.3, ss.106-110, 1999 (SCI-Expanded)

Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease

Parman Y., Plante-Bordeneuve V., Guiochon-Mantel A., Eraksoy M., Said G.

ANNALS OF NEUROLOGY , cilt.45, sa.4, ss.518-522, 1999 (SCI-Expanded)

Diğer Dergilerde Yayınlanan Makaleler

LETTER TO THE EDITOR Novel and nano-rare genetic causes of paediatric-onset motor neuronopathies

Cakar A., Maroofian R., Parman Y., Reilly M. M., Houlden H.

Brain Communications , cilt.6, sa.1, 2024 (ESCI)

Botulinum Toxin Treatment in Blepharospasm: Single-center Experience Blefarospazm Tedavisinde Botulinum Toksin: Tek-merkez Deneyimi

Çakar A., Samancı B., Hanağası H., Parman Y.

Turk Noroloji Dergisi , cilt.29, sa.3, ss.204-208, 2023 (ESCI)

Myasthenia gravis after botulinum toxin type A injection Botulinum toksin tip A enjeksiyonu sonrası açığa çıkan myasthenia gravis olgusu

Tekce H., Deymeer F., Serdaroglu P. O., Parman Y.

Turk Noroloji Dergisi , cilt.22, sa.3, ss.143-144, 2016 (Scopus)

MALIGNANT LYMPHOMAAND CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY: A CASE REPORT

ÇOBAN A., Kurtuncu M., Isik N., Serdaroglu P., Deymeer F., Parman Y.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , sa.1, ss.19-22, 2006 (ESCI)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Long-term follow-up of five families from Turkey with UBQLN2 variants

Durmus H., ÇAKAR A., Aysal F., Ertas M., Basak N., Parman Y.

21st Annual Meeting of the Northeast-Amyotrophic-Lateral-Sclerosis-Consortium (NEALS), Florida, Amerika Birleşik Devletleri, 1 - 03 Kasım 2022

Correlations Between Radiographic Spinopelvic Parameters And Health-Related Quality Of Life: A Prospective Evaluation Of 37 Patients With Facioscapulohumeral Muscular Dystrophy

BAYRAM S., KENDİRCİ A. Ş., KARALAR Ş., DURMUŞ TEKÇE H., PARMAN F. Y., AKGÜL T., et al.

23nd EFORT Congress, Lisbon, Portekiz, 22 - 24 Haziran 2022, cilt.23

GNE miyopatisinde solunumsal problemler

Dikmen B., Pıhtılı A., Kıyan E., Parman F. Y., Durmuş Tekçe H.

Türk Toraks Derneği 25. Yıllık Kongresi, Antalya, Türkiye, 24 - 28 Mayıs 2022, ss.896

An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis

Durmus H., ÇAKAR A., Demirci H., Parman F. Y.

Annual Meeting of the American-Academy-of-Neurology, Washington, Amerika Birleşik Devletleri, 2 - 07 Nisan 2022

YAYGIN HİPERPİGMENTASYON İLE BAŞVURAN BİR DERMATOMİYOZİT OLGUSU

GEZEGEN H., ALTINKAYNAK M., ÇAKAR A., DURMUŞ TEKÇE H., AKPINAR T. S., PARMAN F. Y.

57. Ulusal nöroloji kongresi, Antalya, Türkiye, 27 Kasım 2021

Pandemi Öncesi ve Pandemi Döneminde Guillain-Barré Sendromunun Klinik ve Elektrofizyolojik Özellikleri: Çok Merkezli İstanbul Çalışması

Taşdemir V., Şirin İnan N. G., Çakar A., Çulha A., Soysal A., Elmalı Yazıcı A. D., et al.

57. Ulusal Nöroloji Kongresi, Antalya, Türkiye, 27 Kasım - 01 Aralık 2021

Effects of immunosuppressive treatment on thymocyte maturation in Myasthenia Gravis patiens

Yentür S. P., Durmuş Tekçe H., Erdoğdu E., Yegen G., Yılmaz V., Özkan B., et al.

European Congress of Immunology, Belgrade, Sırbistan, 1 - 04 Eylül 2021, ss.78

Expanding the phenotypical spectrum of SACS mutation: A Single Center Experience

ÇAKAR A., İNCİ M., ÖZDAĞ ACARLI A. N., DURMUŞ TEKÇE H., PARMAN F. Y.

Virtual Annual Meeting of the American-Academy-of-Neurology, ELECTR NETWORK, 17 - 22 Nisan 2021

Cognitive involvement in transthyretin-related familial amyloid polyneuropathy (TTR-FAP)

DURMUŞ TEKÇE H., ÇAKAR A., Demirci H., PARMAN F. Y.

Virtual Annual Meeting of the American-Academy-of-Neurology, ELECTR NETWORK, 17 - 22 Nisan 2021

WRITER'S CRAMP: A SINGLE-CENTER EXPERIENCE

Cakar A., Tufekcioglu Z., Hanagasi H., Parman Y.

TOXINS Conference on Basic Science and Clinical Aspects of Botulinum and other Neurotoxins, ELECTR NETWORK, 16 - 17 Ocak 2021, cilt.190

Cognitive involvement in ATTR amyloidosis (TTR-FAP)

DURMUŞ TEKÇE H., ÇAKAR A., Demirci H., Alaylioglu M., GEZEN AK D., DURSUN E., et al.

Virtual Conference of Peripheral-Nerve-Society, ELECTR NETWORK, 01 Ocak 2020, ss.527

Episodic psychosis, ataxia, motor neuropathy caused by a novel mutation in ADPRHL2

DURMUŞ TEKÇE H., Hashemolhosseini S., CEYLANER S., PARMAN F. Y.

Virtual Conference of Peripheral-Nerve-Society, ELECTR NETWORK, 01 Ocak 2020, ss.558

Clinical features of a homozygous missense mutation in the FXN gene resulting in a Charcot-Marie-Tooth-like phenotype

ÇAKAR A., Candayan A., Yunisova G., Battaloglu E., DURMUŞ TEKÇE H., PARMAN F. Y.

Virtual Conference of Peripheral-Nerve-Society, ELECTR NETWORK, 01 Ocak 2020, ss.490

Variation of Penetrance in hereditary Transthyretin Amyloidosis (hATTR) between European countries: impact on the management of gene carriers

Gorram F., Olsson M., Mazzeo A., Cisneros-Barroso E., Parman Y., Cruz M. W., et al.

6th Congress of the European-Academy-of-Neurology (EAN), ELECTR NETWORK, 23 - 26 Mayıs 2020, cilt.27, ss.510

Skin Biopsy as a Biomarker in Chronic Inflammatory Demyelinating Polyneuropathy

Parman Y., Acarli A. N. O., ÜNVERENGİL G., Sirin N. G., ÇAKAR A., DURMUŞ TEKÇE H.

Annual Meeting of the American-Academy-of-Neurology, Toronto, Kanada, 25 Nisan - 01 Mayıs 2020

Circulating B Cell Subsets and Cytokine Gene Expression Levels in Peripheral Blood and Skin Biopsy in Chronic Inflammatory Demyelinating Polyneuropathy

Acarli A. N. O., Yilmaz V., Sirin N. G., ÇAKAR A., Soysal A., Aysal F., et al.

Annual Meeting of the American-Academy-of-Neurology, Toronto, Kanada, 25 Nisan - 01 Mayıs 2020

Studying Clinical and Genetic Characteristics of Emery-Dreifuss Muscular Dystrophy

Yunisova G., Oflazer P., Deymeer F., ÇAKAR A., PARMAN F. Y., DURMUŞ TEKÇE H.

Annual Meeting of the American-Academy-of-Neurology, Toronto, Kanada, 25 Nisan - 01 Mayıs 2020, cilt.94

Clinical and genetic features of SPG11: A Single Center Experience

Cakar A., Gezegen H., Tunca C., Bayraktar E., Basak N., Durmus-Tekce H., et al.

Annual Meeting of the American-Academy-of-Neurology, Toronto, Kanada, 25 Nisan - 01 Mayıs 2020, cilt.94

Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP): A Database Analysis

ERDOĞAN Ç., Bayrak A. O., ULUÇ K., Karli N., KOÇ A. F., ÖZTÜRK Ş., et al.

Annual Meeting of the American-Academy-of-Neurology, Toronto, Kanada, 25 Nisan - 01 Mayıs 2020, cilt.94

GNE MYOPATHY in TURKEY: CLINICAL FEATURES AND NOVEL MUTATIONS

Durmus H., Ceylaner S., Parman F. Y., Deymeer F., Serdaroglu P.

71st Annual Meeting of the American-Academy-of-Neurology (AAN), Pennsylvania, Amerika Birleşik Devletleri, 4 - 10 Mayıs 2019, cilt.92

Autosomal Recessive Charcot-Marie-Tooth Disease in Turkey

Parman Y., Cakar A., Candayan A., Akcay H. I., Yunisova G., Ulukan Ç., et al.

71st Annual Meeting of the American-Academy-of-Neurology (AAN), Pennsylvania, Amerika Birleşik Devletleri, 4 - 10 Mayıs 2019, cilt.92

Behçet Hastalığı Zemininde Ortaya Çıkan Kronik İnflamatuar Demiyelinizan Polinöropati Olgusu

DOĞAN F. U., GÜNDÜZ T., PARMAN F. Y., ERAKSOY M., KÜRTÜNCÜ M.

54. Ulusal Nöroloji kongresi, Türkiye, 30 Kasım 2018

MCM3AP in recessive axonal neuropathy and mild intellectual disability

Ylikallio E., Woldegebriel R., Tumiati M., Isohanni P., Ryan M. M., Stark Z., et al.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.40-41

Developing a framework to optimise the ongoing assessment of ATTR-amyloidosis

Parman Y., Coelho T., Conceicao I., Galan L., Obici L., Rousseau A.

4th Congress of the European-Academy-of-Neurology (EAN), Lisbon, Portekiz, 16 - 19 Haziran 2018, cilt.25, ss.148

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

Parman Y., Durmus H., Candayan A., Akcay H. I., Yunisova G., Ulukan Ç., et al.

70th Annual Meeting of the American-Academy-of-Neurology (AAN), Los-Angeles, Şili, 21 - 27 Nisan 2018, cilt.90

Anoctamin 5 muscular dystrophy mimicking metabolic myopathy

Durmus H., Scalco R., Gardiner A., Manole A., Schapiro A., Morrow J., et al.

22nd International Annual Congress of the World-Muscle-Society (WMS), Saint-Lo, Fransa, 3 - 07 Ekim 2017, cilt.27

MUTATION SPECTRUM IN A TURKISH CHARCOT-MARIE-TOOTH DISEASE COHORT

Candayan A., Atkinson D., Tekce D. H., Parman Y., Jordanova A., Battaloglu E.

Peripheral-Nerve-Society Meeting, Sitges, İspanya, 8 - 12 Temmuz 2017, cilt.22, ss.255

GENOTYPIC AND PHENOTYPIC PRESENTATION OF TRANSTHYRETIN- RELATED FAMILIAL AMYLOID POLYNEUROPATHY (TTR-FAP) IN TURKEY

Durmus H., Cakar A., Sahin E., Matur Z., Poda M., Altunoglu U., et al.

Peripheral-Nerve-Society Meeting, Sitges, İspanya, 8 - 12 Temmuz 2017, cilt.22, ss.276-277

Congenital myasthenic syndromes in Turkey

Durmus H., Kara B., Parman Y., Oflazer P., Deymeer F.

3rd Congress of the European-Academy-of-Neurology, Amsterdam, Hollanda, 01 Haziran 2017, cilt.24, ss.500

CHARCOT-MARIE-TOOTH DISEASE IN TURKEY: CLINICAL AND GENETIC FINDINGS FROM A SINGLE-CENTRE EXPERIENCE

Akcay H., Durmus H., Deymeer F., Oflazer-Serdaroglu P., Sivaci M., Candayan A., et al.

Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Glasgow, Birleşik Krallık, 21 - 24 Haziran 2016, cilt.21, ss.230-231

SPG11 IS AN OVERLAPPING GENE BETWEEN CHARCOT-MARIE-TOOTH DISEASE AND HEREDITARY SPASTIC PARAPLEGIA

Battaloglu E., Estrada-Cuzcano A., Atkinson D., Candayan A., De Vriendt E., Parman Y., et al.

Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Glasgow, Birleşik Krallık, 21 - 24 Haziran 2016, cilt.21, ss.238-239

MITOFUSIN 2 GENE MUTATIONS IN A TURKISH CHARCOT-MARIE-TOOTH DISEASE COHORT

Candayan A., Sivaci M., Parman Y., Battaloglu E.

Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Glasgow, Birleşik Krallık, 21 - 24 Haziran 2016, cilt.21, ss.242

Clinical and Genetic Heterogeneity in Charcot-Marie-Tooth Neuropathy Type 2 Patients from Turkey

Durmus H., Akcay H. I., Sivaci M., Serdaroglu P., Deymeer F., Battaloglu E., et al.

68th Annual Meeting of the American-Academy-of-Neurology (AAN), Vancouver, Kanada, 15 - 21 Nisan 2016, cilt.86

Clinical and Genetic Heterogeneity in Familial ALS Patients from Turkey

Durmus H., Sezgin M., Samanci B., Ozoguz A., Deymeer F., Serdaroglu P., et al.

68th Annual Meeting of the American-Academy-of-Neurology (AAN), Vancouver, Kanada, 15 - 21 Nisan 2016

TÜRK TOPLUMUNDA EN SIK RASTLANILAN MİYOFOSFORİLAZ (PYGM) MUTASYONLARI: MCARDLE HASTALIĞININ GENETİK TANISI İÇİN YENİ NESİL DİZİLEME

İNAL GÜLTEKİN G., TOPTAŞ HEKİMOĞLU B., GÖRMEZ Z., DURMUŞ TEKÇE H., SAĞIROĞLU M. Ş., DEMİRCİ H., et al.

51. Ulusal Nöroloji Kongresi, Antalya, Türkiye, 27 Kasım - 03 Aralık 2015 Sürdürülebilir Kalkınma

Genotypic and phenotypic presentation of Glu89Gln mutation in Turkey

DURMUŞ TEKÇE H., MATUR Z., ATMACA M. M., PODA M., ÇAKAR A., SERDAROĞLU OFLAZER P., et al.

First European Congress on Hereditary ATTR amyloidosis, Fransa, 2 - 03 Kasım 2015

Evaluation of maximum oxygen utilization in McArdle patients before and after exercise training

Gelisin O., Durmus H., Yakal S., Kasikcioglu E., Parman Y., Deymeer F., et al.

20th International Congress of the World-Muscle-Society, Brighton, Birleşik Krallık, 30 Eylül - 04 Ekim 2015, cilt.25

Myophosphorylase (<i>PYGM</i>) mutations in Turkish patients with McArdle disease: A next generation sequencing study

Gultekin G. I., Hekimoglu B. T., Gormez Z., Durmus H., Demirci H., Sagiroglu M., et al.

20th International Congress of the World-Muscle-Society, Brighton, İngiltere, 30 Eylül - 04 Ekim 2015

CLINICAL AND GENETIC CHARACTERISTICS OF 20 ALS PATIENTS FROM TURKEY WITH <i>SOD1</i> MUTATIONS

Samanci B., Durmus H., Ozoguz A., Oflazer-Serdaroglu P., Deymeer F., Basak A. N., et al.

Biennial Meeting of the Peripheral-Nerve-Society, Quebec, Kanada, 27 Haziran - 02 Temmuz 2015, ss.224-225

GENETIC SURVEY OF A LARGE COHORT OF CMT PATIENTS FROM TURKEY REVEALED EQUAL FREQUENCIES OF CMT1A DUPLICATION AND HNPP DELETION

Ozes B., Sivaci M., Akyuz K., Durmus H., Deymeer F., Oflazoglu P., et al.

Biennial Meeting of the Peripheral-Nerve-Society, Quebec, Kanada, 27 Haziran - 02 Temmuz 2015, cilt.20, ss.205

NOVEL MUTATIONS IN GENES CAUSING CHARCOT-MARIE-TOOTH NEUROPATHY AND HEREDITARY SPASTIC PARAPLEGIA IDENTIFIED BY HOMWES

Atkinson D., Kancheva D., Zimon M., De Rijk P., Chamova T., Mitev V., et al.

Biennial Meeting of the Peripheral-Nerve-Society, Quebec, Kanada, 27 Haziran - 02 Temmuz 2015, cilt.20, ss.98

Ocular myasthenia gravis

Uyar T., Durmus H., Parman Y., Serdaroglu-Oflazer P., Saruhan-Direskeneli G., Deymeer F.

1st Congress of the European-Academy-of-Neurology, Berlin, Almanya, 20 - 23 Haziran 2015, cilt.22, ss.720

HIV Seyrinde Gelişen Nöropatiler: Olgu Sunumu

Karaaslan Z., Atmaca M. M., Başaran S., Durmuş H., Çağatay A. A., Parman F. Y., et al.

31. Ulusal Klinik Nörofizyoloji EEG - EMG Kongresi , Antalya, Türkiye, 8 - 12 Nisan 2015, ss.70

Differential cytokine changes in myasthenia gravis patients with antibodies against AChR and Musk

Yilmaz V., Oflazer P., Aysal F., Durmus H., Poulos K., Parman Y., et al.

12th International Congress of Neuroimmunology (ISNI), Mainz, Almanya, 9 - 13 Kasım 2014, cilt.275, ss.212-213

Dramatic improvement after injection augmentation in oculopharyngodistal myopathy

Ozcan O., Durmus H., Tarhan O., Polat Z., Deymeer F., Parman Y., et al.

19th International Congress of the World-Muscle-Society, Berlin, Almanya, 7 - 11 Ekim 2014, cilt.24, ss.796

Late-onset non-thymomatous generalized myasthenia gravis

Yildiz-Celik S., Durmus H., Hajibehzad M., Yilmaz V., Oflazer-Serdaroglu P., Parman Y., et al.

19th International Congress of the World-Muscle-Society, Berlin, Almanya, 7 - 11 Ekim 2014, cilt.24, ss.842

Tafamidis treatment in a patient with transthyretin amyloidosis due to domino liver transplantation

Matur Z., Atmaca M. M., Durmus H., Parman Y.

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.21, ss.543

Genotypic and phenotypic presentation of TTR-FAP in Turkey

Durmus H., Matur Z., Atmaca M. M., Poda M., Oflazer-Serdaroglu P., Deymeer F., et al.

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.21, ss.137

Clinical and genetic features of the patients with MNGIE: cohort at the department of neurology, Istanbul Faculty of Medicine

Cakar A., Durmus H., Gunduz T., Deymeer F., Parman Y., Oflazer-Serdaroglu P.

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.261

The distinct genetic pattern of ALS in Turkey

Ozoguz A., Uyan O., Birdal G., Iskender C., Omur O., Lahut S., et al.

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.261

Exome sequencing vs. phenotype directed gene screening in CMT patients from Turkey

Sivaci M., Parman Y., Gonzaga-Jauregui C., Pehlivan D., Durmus H., Deymeer F., et al.

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.21, ss.209

Whole exome sequencing analysis in recessive hereditary spastic paraplegia patients from Turkey

Ozes B., Gonzalez M., Durmus H., Deymeer F., Oflazoglu P., Zuechner S., et al.

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.261

Clinical and genetic features of patients with MNGIE: cohort at the department of neurology, Istanbul Faculty of Medicine

Cakar A., Durmus H., Gunduz T., Deymeer F., Parman Y., Oflazer-Serdaroglu P.

Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.21, ss.519

Distribution and Severity of Weakness in Patients with Polymyositis and Dermatomyositis: Different Pathophysiology, Different Affected Muscle Groups

Durmus H., Deymeer F., Parman Y., Serdaroglu P.

65th Annual Meeting of the American-Academy-of-Neurology (AAN), California, Amerika Birleşik Devletleri, 16 - 23 Mart 2013, cilt.80

Clinical and Genetic Characteristics of Five Turkish Families with UBQLN2 Mutations

Durmus H., Ozoguz A., Deymeer F., Serdaroglu P., Aysal F., Ertas M., et al.

65th Annual Meeting of the American-Academy-of-Neurology (AAN), California, Amerika Birleşik Devletleri, 16 - 23 Mart 2013, cilt.80

Muscle MRI in a filaminopathy family: Involvement of paraspinals is earlier and more severe than of thigh muscles

Yavuz A. O., Goldfarb L., Tuncer O., Dursun M., Olive M., Deymeer F., et al.

17th International Congress of the World-Muscle-Society (WMS), Perth, Avustralya, 9 - 13 Ekim 2012, cilt.22, ss.821-822

EXPRESSION OF FGF1 AND FGFR1 IN MOUSE SCIATIC NERVE

Battaloglu E., Daglikoca E. D., Yildirim K., Kilinc M., Parman Y., Svenningsen A. F., et al.

Meeting of the Peripheral-Nerve-Society, Maryland, Amerika Birleşik Devletleri, 25 - 29 Haziran 2011, cilt.16

CLINICO-PATHOLOGICAL AND GENETIC STUDY OF FAMILIAL TRANSTHYRETIN-TYPE AMYLOID POLYNEUROPATHY

Parman Y., Matur Z., Shugaiv E., Ilgaz-Aydinlar E., Battaloglu E., Oflazer P., et al.

Meeting of the Peripheral-Nerve-Society, Maryland, Amerika Birleşik Devletleri, 25 - 29 Haziran 2011, cilt.16

Botulinum toxin injections for the facial region

Matur Z., Coban A., Babacan G., Shugaiv E., Hanagasi H. A., Parman Y.

20th Meeting of the European-Neurological-Society, Berlin, Almanya, 19 - 23 Haziran 2010, cilt.257

Oculopharyngodistal Myopathy Is a Distinct Entity - Clinical and Genetic Characterization of 40 Turkish OPDM Patients

Durmus H., Laval S. H., Deymeer F., Parman Y., Kiyan E., Gokyigit M., et al.

62nd Annual Meeting of the American-Academy-of-Neurology, Toronto, Kanada, 10 - 17 Nisan 2010

Congenital end-plate acetylcholinesterase deficiency and the effect of ephedrine on clinical findings, lung functions and nocturnal parameters

Kiyan E., Kara B., Oflazer P. S., Parman Y., Tasdemir N., Deymeer F., et al.

14th International Congress of the World-Muscle-Society, Geneva, İsviçre, 9 - 12 Eylül 2009, cilt.19, ss.626

Severe sleep apnea associated with adult onset Pompe disease: Improvement with alglucosidase alfa

Kiyan E., Engin-Unver R., Deymeer F., Parman Y., Serdaroglu-Oflazer P.

14th International Congress of the World-Muscle-Society, Geneva, İsviçre, 9 - 12 Eylül 2009, cilt.19, ss.593-594

Myophosphorylase deficiency and calpainopathy in the same patient

Pulur N., Parman Y., Deymeer F., Serdaroglu-Oflazer P.

14th International Congress of the World-Muscle-Society, Geneva, İsviçre, 9 - 12 Eylül 2009, cilt.19, ss.622

EXPRESSION OF FGFs AND THEIR RECEPTORS IN MOUSE DORSAL ROOT GANGLIA

Battaloglu E., Erkut C., Daglikoca D., Parman Y., Bugra K.

Annual Meeting of the Peripheral-Nerve-Society, Würzburg, Almanya, 4 - 08 Temmuz 2009, cilt.14, ss.13-14

MULTIPLE ANALYSIS OF HEREDITARY SPASTIC PARAPLEGIA

Akcakaya N. H., Atay C., Isik N., Uludag F., Deymeer F., Serdaroglu P., et al.

Annual Meeting of the Peripheral-Nerve-Society, Würzburg, Almanya, 4 - 08 Temmuz 2009, cilt.14, ss.5

Anti-MuSK antibodies are not associated with prolonged pure ocular symptoms

Sirin G., Yilmaz V., Parman Y., Serdaroglu-Oflazer P., Saruhan-Direskeneli G., Deymeer F.

13th International Congress of the World-Muscle-Society, Newcastle upon Tyne, İngiltere, 29 Eylül - 02 Ekim 2008, cilt.18, ss.749-750

Clinicopathological and genetic study of CMT2

Shugaiv E., Senergin B., Battaloglu E., Serdaroglu P., Deymeer F., Akalin M. A., et al.

13th International Congress of the World-Muscle-Society, Newcastle-Upon-Tyne, Birleşik Krallık, 29 Eylül - 02 Ekim 2008, cilt.18, ss.733

Nerve conduction studies in demyelinating CMT

Poyraz M., Matur Z., Battaloglu E., Oflazer P., Parman Y., Deymeer F.

18th Meeting of the European-Neurological-Society, Nice, Fransa, 7 - 11 Haziran 2008, cilt.255, ss.62-63

Longitudinal study confirming muscle strength deterioration in SMA IIIb

Deymeer F., Serdaroglu P., Parman Y., Poda M.

12th International Congress of the World-Muscle-Society, Giardini Naxos, İtalya, 17 - 20 Ekim 2007, cilt.17, ss.777

Prevalence of sporadic inclusion body myositis (s-IBM) in Turkey: A muscle biopsy based survey

Serdaroglu P., Deymeer F., Parman Y.

12th International Congress of the World-Muscle-Society, Giardini Naxos, İtalya, 17 - 20 Ekim 2007, cilt.17, ss.849

Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene

Colomer J., Gooding R., Angelicheva D., King R. H. M., Parman Y., Nascimento A., et al.

11th International Congress of the World-Muscle-Society, Brugge, Belçika, 4 - 07 Ekim 2006, cilt.16, ss.664-665