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Dive into the research topics where Yesim Parman is active.

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Featured researches published by Yesim Parman.


Nature Genetics | 2004

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

Stephan Züchner; Irina V. Mersiyanova; Maria Muglia; Nisrine Bissar-Tadmouri; Julie M. Rochelle; Elena L. Dadali; Mario Zappia; Eva Nelis; Alessandra Patitucci; Jan Senderek; Yesim Parman; Oleg V. Evgrafov; Yuji Takahashi; Shoij Tsuji; Margaret A. Pericak-Vance; Aldo Quattrone; Esra Battologlu; Alexander V. Polyakov; Vincent Timmerman; J. Michael Schröder; Jeffery M. Vance

We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A). Although a mutation in kinesin family member 1B-β (KIF1B) was associated with CMT2A in a single Japanese family, we found no mutations in KIF1B in these seven families. Because these families include all published pedigrees with CMT2A and are ethnically diverse, we conclude that the primary gene mutated in CMT2A is MFN2.


Journal of Rehabilitation Medicine | 2009

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

Jörg Wissel; Anthony B. Ward; Per Erztgaard; Djamel Bensmail; Martin Hecht; Thierry Lejeune; Peter Schnider; Maria C. Altavista; Stefano Cavazza; Thierry Deltombe; Esther Duarte; A.C.H. Geurts; Jean Michel Gracies; Naseer H J Haboubi; Francisco J. Juan; Helge Kasch; Christian Kätterer; Yesim Kirazli; Paolo Manganotti; Yesim Parman; Tatjana Paternostro-Sluga; Konstantina Petropoulou; Robert Prempeh; Marc Rousseaux; Jarosław Sławek; Niko Tieranta

A group of clinicians from across Europe experienced in the use of botulinum toxin type A for the treatment of spasticity following acquired brain injury gathered to develop a consensus statement on best practice in managing adults with spasticity. This consensus table summarizes the current published data, which was collated following extensive literature searches, their assessment for level of evidence and discussion among the whole group. Published information is supplemented by expert opinion based on clinical experience from 16 European countries, involving 28 clinicians, who treat an average of approximately 200 patients annually, representing many thousand spasticity treatments with botulinum toxin per year.


American Journal of Human Genetics | 2003

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek; Carsten Bergmann; Claudia Stendel; Jutta Kirfel; Nathalie Verpoorten; Vincent Timmerman; Roman Chrast; Mark H. G. Verheijen; Greg Lemke; Esra Battaloglu; Yesim Parman; Sevim Erdem; Ersin Tan; Haluk Topaloglu; Andreas Hahn; Wolfgang Müller-Felber; N. Rizzuto; Gian Maria Fabrizi; Manfred Stuhrmann; Sabine Rudnik-Schöneborn; Stephan Züchner; J. Michael Schröder; Eckhard Buchheim; Volker Straub; Jörg Klepper; Kathrin Huehne; Bernd Rautenstrauss; Reinhard Büttner; Eva Nelis; Klaus Zerres

Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. CMT4C is inherited as an autosomal recessive trait and has been mapped to a 13-cM linkage interval on chromosome 5q23-q33. By homozygosity mapping and allele-sharing analysis, we refined the CMT4C locus to a suggestive critical region of 1.7 Mb. We subsequently identified mutations in an uncharacterized transcript, KIAA1985, in 12 families with autosomal recessive neuropathy. We observed eight distinct protein-truncating mutations and three nonconservative missense mutations affecting amino acids conserved through evolution. In all families, we identified a mutation on each disease allele, either in the homozygous or in the compound heterozygous state. The CMT4C gene is strongly expressed in neural tissues, including peripheral nerve tissue. The translated protein defines a new protein family of unknown function with putative orthologues in vertebrates. Comparative sequence alignments indicate that members of this protein family contain multiple SH3 and TPR domains that are likely involved in the formation of protein complexes.


Cell | 2014

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Shinya Yamamoto; Manish Jaiswal; Wu Lin Charng; Tomasz Gambin; Ender Karaca; Ghayda M. Mirzaa; Wojciech Wiszniewski; Hector Sandoval; Nele A. Haelterman; Bo Xiong; Ke Zhang; Vafa Bayat; Gabriela David; Tongchao Li; Kuchuan Chen; Upasana Gala; Tamar Harel; Davut Pehlivan; Samantha Penney; Lisenka E.L.M. Vissers; Joep de Ligt; Shalini N. Jhangiani; Yajing Xie; Stephen H. Tsang; Yesim Parman; Merve Sivaci; Esra Battaloglu; Donna M. Muzny; Ying Wooi Wan; Zhandong Liu

Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human data sets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health.


American Journal of Human Genetics | 2007

Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

Claudia Stendel; Andreas Roos; Tine Deconinck; Jorge A. Pereira; François Castagner; Axel Niemann; Janbernd Kirschner; Rudolf Korinthenberg; Uwe-Peter Ketelsen; Esra Battaloglu; Yesim Parman; Garth A. Nicholson; Robert Ouvrier; Jürgen Seeger; Joachim Weis; Alexander Krüttgen; Sabine Rudnik-Schöneborn; Carsten Bergmann; Ueli Suter; Klaus Zerres; Vincent Timmerman; João B. Relvas; Jan Senderek

GTPases of the Rho subfamily are widely involved in the myelination of the vertebrate nervous system. Rho GTPase activity is temporally and spatially regulated by a set of specific guanine nucleotide exchange factors (GEFs). Here, we report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy. These data, together with the ability of frabin to induce Cdc42-mediated cell-shape changes in transfected Schwann cells, suggest that Rho GTPase signaling is essential for proper myelination of the peripheral nervous system.


Neurology | 2007

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

Feza Deymeer; O. Gungor-Tuncer; V. Yılmaz; Yesim Parman; Piraye Serdaroglu; C. Ozdemir; A. Vincent; Güher Saruhan-Direskeneli

We compared 65 anti-acetylcholine receptor (AChR)-negative myasthenia gravis (MG) patients, including 32 anti-muscle-specific tyrosine kinase (MuSK)-positive (49%) and 33 anti-MuSK-negative (seronegative) (51%) patients, with 161 anti-AChR-positive MG patients. The anti-MuSK-positive group had a higher frequency of bulbar involvement and respiratory crises. The seronegative group was in between the anti-MuSK positive and the anti-AChR positive groups, being closer to the latter, with regard to the severity of the disease. At the end of follow-up, the outcome of the anti-MuSK-positive patients was not different from that of the anti-AChR-positive patients, although their maintenance corticosteroid dose was higher. The seronegative patients had better outcome than the other two groups.


Cell Reports | 2015

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

Claudia Gonzaga-Jauregui; Tamar Harel; Tomasz Gambin; Maria Kousi; Laurie B. Griffin; Ludmila Francescatto; Burcak Ozes; Ender Karaca; Shalini N. Jhangiani; Matthew N. Bainbridge; Kim Lawson; Davut Pehlivan; Yuji Okamoto; Marjorie Withers; Pedro Mancias; Anne Slavotinek; Pamela J. Reitnauer; Meryem Tuba Goksungur; Michael E. Shy; Thomas O. Crawford; Michel Koenig; Jason R. Willer; Brittany N. Flores; Igor Pediaditrakis; Onder Us; Wojciech Wiszniewski; Yesim Parman; Anthony Antonellis; Donna M. Muzny; Nicholas Katsanis

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼ 45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in vivo studies. Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, confirmed in a second ethnically discrete neuropathy cohort, suggesting that mutation burden potentially contributes to phenotypic variability. Neuropathy genes shown to have highly penetrant Mendelizing variants (HPMVs) and implicated by burden in families were shown to interact genetically in a zebrafish assay exacerbating the phenotype established by the suppression of single genes. Our findings suggest that the combinatorial effect of rare variants contributes to disease burden and variable expressivity.


Brain | 2011

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

Jonathan Baets; Tine Deconinck; Els De Vriendt; Magdalena Zimoń; Laetitia Yperzeele; Kim Van Hoorenbeeck; Kristien Peeters; Ronen Spiegel; Yesim Parman; Berten Ceulemans; Patrick Van Bogaert; Adolf Pou-Serradell; Günther Bernert; Argirios Dinopoulos; Michaela Auer-Grumbach; Satu-Leena Sallinen; Gian Maria Fabrizi; Fernand Pauly; Peter Van den Bergh; Birdal Bilir; Esra Battaloglu; Ricardo E. Madrid; Dagmara Kabzińska; Andrzej Kochański; Haluk Topaloglu; Geoffrey P. Miller; Albena Jordanova; Vincent Timmerman

Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine–Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are known to be a typical cause of very early onset hereditary neuropathies. In addition, mutations in several other dominant and recessive genes for Charcot–Marie–Tooth disease may lead to similar phenotypes. To estimate mutation frequencies and to gain detailed insights into the genetic and phenotypic heterogeneity of early onset hereditary neuropathies, we selected a heterogeneous cohort of 77 unrelated patients who presented with symptoms of peripheral neuropathy within the first year of life. The majority of these patients were isolated in their family. We performed systematic mutation screening by means of direct sequencing of the coding regions of 11 genes: MFN2, PMP22, MPZ, EGR2, GDAP1, NEFL, FGD4, MTMR2, PRX, SBF2 and SH3TC2. In addition, screening for the Charcot–Marie–Tooth type 1A duplication on chromosome 17p11.2-12 was performed. In 35 patients (45%), mutations were identified. Mutations in MPZ, PMP22 and EGR2 were found most frequently in patients presenting with early hypotonia and breathing difficulties. The recessive genes FGD4, PRX, MTMR2, SBF2, SH3TC2 and GDAP1 were mutated in patients presenting with early foot deformities and variable delay in motor milestones after an uneventful neonatal period. Several patients displaying congenital foot deformities but an otherwise normal early development carried the Charcot–Marie–Tooth type 1A duplication. This study clearly illustrates the genetic heterogeneity underlying hereditary neuropathies with infantile onset.


Nature Genetics | 2012

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

Magdalena Zimoń; Jonathan Baets; Leonardo Almeida-Souza; Els De Vriendt; J. Nikodinovic; Yesim Parman; Esra Battalolu; Zeliha Matur; Velina Guergueltcheva; Ivailo Tournev; Michaela Auer-Grumbach; Peter De Rijk; Britt-Sabina Petersen; Thomas Müller; Erik Fransen; Philip Van Damme; Wolfgang N. Löscher; Nina Barišić; Zoran Mitrović; Stefano C. Previtali; Haluk Topalolu; Günther Bernert; Ana Beleza-Meireles; S. Todorovic; Dušanka Savić-Pavićević; Boryana Ishpekova; Silvia Lechner; Kristien Peeters; Tinne Ooms; Angelika F Hahn

Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide–binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.


Parkinsonism & Related Disorders | 2010

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

Haluk Kulaksizoglu; Yesim Parman

AIM To evaluate the efficacy of intravesical Botulinum toxin injection for overactive bladder symptoms in patients with Parkinsons disease. MATERIALS AND METHOD Parkinsons Disease patients with overactive bladder symptoms and incontinence were included in the study. Patients were interviewed using the SEAPI questionnaire. The caregivers evaluated their decline in quality of life using the visual analog scale. Intradetrusor injection technique with 30 point template was employed. All patients received 500 i.u. of botulinum toxin-A. The follow-up was at week one and every 12 weeks thereafter for 12 months. Primary caregiver quality of life assessments were also performed using the VAS scale in every visit. RESULTS Sixteen patients were followed for 12 months. The mean age of the group was 67.2 +/- 5.1. Initial mean functional bladder capacity for the group was 198.6 +/- 33.7 mL.In the third month control the mean bladder capacity increased to 319 +/- 41.1 mL. The quality of life assessment of primary caregiver as well as the patients also statistically improved after the injections (p < 0.05 for both). No neurological detoriation, confusion or disorientation were noted. At the 9th month control 6 patients experienced some urgency which they could suppress and were continent, 4 patients reported occasional incontinence (once in 2-3 days) and 6 patients reported once daily or more incontinence episodes. Medical therapy was prescribed for 12 patients and 4 asked for repeat injections. CONCLUSION Intravesical botulinum toxin injection is an effective treatment modality with local action and no central nervous system side effects in patients with Parkinsons disease.

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