G. Uyanik

发表

Dopamine D3 receptor gene: organization, transcript variants, and polymorphism associated with schizophrenia.

J. Macher, M. Martres, P. Sokoloff, 1996, American journal of medical genetics.

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

J. Winkler, E. Boltshauser, U. Hehr, 2005, European Journal of Pediatrics.

BalI and MspI polymorphisms of the dopamine D3 receptor gene in African Blacks and Caucasians.

J. Macher, A. Buguet, M. Dumas, 1996, Human heredity.

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease

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

47 patients with FLNA associated periventricular nodular heterotopia

J. Winkler, A. Ferbert, G. Schuierer, 2015, Orphanet Journal of Rare Diseases.

Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia

J. Winkler, U. Bogdahn, P. Bauer, 2007, Annals of neurology.

Hereditary alpha tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.

K. Schmetterer, P. Valent, H. Gisslinger, 2020, Blood.

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

J. Winkler, D. Pineda-Alvarez, M. Muenke, 2010, Human Genetics.

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

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

Selective bilateral hippocampal lesions after theophylline-induced status epilepticus causes a permanent amnesic syndrome

U. Bogdahn, G. Schuierer, Z. Kohl, 2011, Journal of Clinical Neuroscience.

Analysis of the CAG repeats in the SCA1 and B37 genes in schizophrenic and bipolar I disorder patients: tentative association between B37 and schizophrenia.

J. Macher, F. Duval, D. Morris-Rosendahl, 1997, American journal of medical genetics.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

F. Pasquier, A. Durr, D. Hannequin, 2008, Brain : a journal of neurology.

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

J. Winkler, G. Schuierer, B. Winner, 2004, Archives of neurology.

Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond

T. Haferlach, P. Valent, W. Sperr, 2021, International journal of molecular sciences.

High Efficacy of Clonal Growth and Expansion of Adult Neural Stem Cells

J. Winkler, H. Kuhn, C. Svendsen, 2003, Laboratory Investigation.

Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients

J. Winkler, S. Couillard-Després, C. Karl, 2004, Neurogenetics.

Relation between Laterality and Immune Response after Acute Cerebral Ischemia

U. Bogdahn, G. Ickenstein, H. Koch, 2006, Neuroimmunomodulation.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.