G. Uyanik

发表

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

J. Winkler, W. Reardon, E. Phelan, 2005, Journal of Medical Genetics.

ARX mutations in X-linked lissencephaly with abnormal genitalia

J. Winkler, L. Aigner, U. Hehr, 2003, Neurology.

Refining the phenotype of α‐1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

H. Omran, G. Schuierer, K. Kutsche, 2008, Clinical genetics.

DCX-Related Disorders

J. Winkler, S. Couillard-Després, L. Aigner, 2011 .

Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization.

J. Zwerina, A. Brehm, T. Czech, 2018, Bone.

CASK-Related Disorders

K. Kutsche, U. Moog, G. Uyanik, 2013 .

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

D. Horn, Soma Das, D. Wieczorek, 2011, Journal of Medical Genetics.

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

H. Topaloglu, G. Kale, T. Willer, 2005, Neuromuscular Disorders.

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

A. Fry, D. Pilz, W. Dobyns, 2013, Brain : a journal of neurology.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

R. Finkel, P. Bauer, M. Baudis, 2013, Brain : a journal of neurology.

New mutations in the RAB3GAP1 gene in patients with Warburg MICRO Syndrome and a possible founder effect in the Danish population

Ingrid, B. Loeys, R. Segel, 2019 .

Warburg MICRO Syndrome in patients from different ethnic backgrounds: new mutations in the RAB3GAP1 gene and a possible founder effect in the Danish population

B. Loeys, R. Segel, D. Morris-Rosendahl, 2010 .

Thin corpus callosum and amyotrophy in spastic paraplegia—Case report and review of literature

U. Bogdahn, J. Winkler, B. Winner, 2006, Clinical Neurology and Neurosurgery.

Alterations of bone material properties in adult patients with X-linked hypophosphatemia (XLH).

P. Fratzl, E. Shane, J. Zwerina, 2020, Journal of structural biology.

Clinical and Molecular Manifestations of Congenital Muscular Alpha-Dystroglycanopathy due to an ISPD Gene Mutation

P. Gencpinar, G. Uyanik, Ş. Haspolat, 2019, Neurophysiology.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

H. van Bokhoven, S. Çırak, T. Voit, 2010, Neurology.

Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review

H. Per, S. Çırak, H. Jungbluth, 2021, European journal of ophthalmology.

Clinical, Hematologic, Biologic and Molecular Characteristics of Patients with Myeloproliferative Neoplasms and a Chronic Myelomonocytic Leukemia-Like Phenotype

R. Kusec, S. Machherndl-Spandl, P. Valent, 2020, Cancers.

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

B. Loeys, R. Segel, S. Brooks, 2010, European Journal of Human Genetics.

HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study

A. Stadlmayr, C. Datz, J. Zwerina, 2018, PloS one.

Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features.

J. Winkler, H. Topaloglu, B. Talim, 2004, Acta myologica.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

J. Shendure, B. O’Roak, C. Cytrynbaum, 2012, Nature Genetics.

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

J. Winkler, B. Winner, B. Anlar, 2006, Neuropediatrics.

Increased Nuchal Translucency in a Case of Long-Chain 3-Hydroxyacyl- Coenzyme A Dehydrogenase Deficiency

W. Holzgreve, I. Hösli, S. Tercanli, 2000, Fetal Diagnosis and Therapy.

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey

E. Özer, S. Çırak, E. Bayram, 2018, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

K. Kutsche, G. Korenke, G. Uyanik, 2013, European journal of medical genetics.

Search for uniparental disomy 14 in balanced Robertsonian translocation carriers

T. Eggermann, C. Spaich, G. Uyanik, 1999, Clinical genetics.

Phenotypic spectrum associated with CASK loss-of-function mutations

Soma Das, R. Scott, E. Ortibus, 2011, Journal of Medical Genetics.

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights

S. Yılmaz, A. Engel, B. Anlar, 2017, Journal of child neurology.

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

Ravinesh A. Kumar, M. Topf, D. Pilz, 2010, Human molecular genetics.

Development of end-stage renal disease at a young age in two cases with Joubert syndrome.

S. Çırak, G. Uyanik, F. Sönmez, 2014, The Turkish journal of pediatrics.

Increased frequency of MEFV gene mutations in patients with primary dysmenorrhea

G. Uyanik, A. Avşar, H. Keskin, 2012, Modern rheumatology.

Functional imaging in PNH caused by a new FilaminA mutation

J. Winkler, B. Winner, L. Aigner, 2004, Neurology.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations

F. Muntoni, P. Nürnberg, H. Topaloglu, 2020, American journal of medical genetics. Part A.

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

J. Winkler, U. Bogdahn, B. Winner, 2006, Neurology.

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

S. Christian, D. Horn, J. Golden, 2008, Nature genetics.

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene.

J. Winkler, A. Das, T. Lücke, 2004, Neuropediatrics.

X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.

B. Neubauer, A. Hahn, U. Hehr, 2004, Neuropediatrics.

Identifying adult hypophosphatasia in the rheumatology unit

J. Zwerina, G. Schett, R. Kocijan, 2022, Orphanet journal of rare diseases.

Different clinical and morphological phenotypes in monozygotic twins with identical DCX mutation

S. Schneider, J. Winkler, U. Hehr, 2004, Journal of Neurology.

A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

E. Ozer, U. Yiş, S. Kurul, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

J. Winkler, S. Couillard-Després, L. Aigner, 2003, Neurology.

Molecular mechanisms of neuronal migration disorders, quo vadis?

J. Winkler, S. Couillard-Després, L. Aigner, 2001, Current molecular medicine.

A cross section of autosomal recessive hereditary spastic paraplegias

Juergen Winkler, Ute Hehr, Sebahattin Cirak, 2005 .

A dimensional impulsive-aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: a pilot study in well-characterized impulsive inpatients.

J. Macher, F. Trémeau, H. Corrêa, 2002, American journal of medical genetics.

Memantine: a therapeutic approach in treating Alzheimer's and vascular dementia.

G. Uyanik, H. Koch, D. Fischer-Barnicol, 2005, Current Drug Targets - CNS & Neurological Disorders.

Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

E. Bayram, U. Yiş, S. Kurul, 2014, Pediatric neurology.

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype

F. Muntoni, E. Özer, S. Çırak, 2011, Neuromuscular Disorders.

Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the β-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid β-oxidation with fatal outcome

R. Wanders, D. Matern, R. Ensenauer, 2003, European Journal of Pediatrics.

Location and type of mutation in the LIS1 gene do not predict phenotypic severity

J. Winkler, U. Bogdahn, G. Schuierer, 2007, Neurology.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

S. Çırak, T. Voit, T. Willer, 2010, Neurology.