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  Abstracts by subject  
  January, 01 2019

virtual library in human genetics and molecular biology

 
 
Neurogenetics "Non-specific" X-linked mental retardation: clinical, genetic and molecular studies
B. Hamel(1), S. van der Maarel(1), A. Smits(1), E. Mariman(1), H. Kremer(1), F. Cremers(1) and H.H. Ropers(1,2).
  A contig in Xq13.1
U. Peters(1), G. Haberhausen(1), H. Muth(1), A. Köhler(1), A.P. Monaco(2) and U. Müller(1)
  A retroviral vector for tetracycline-regulatable expression of heterologous genes
W. Paulus, I. Baur, F.M. Boyce, X.O. Breakefield and S.A. Reeves
  Altered interleukin-6 secretion capacity of monocytes in narcoleptic patients
D. Hinze-Selch, T. Wetter, Y. Zhang, H. Lu, F. Holsboer and T. Pollmächer
  APOLIPOPROTEIN E AND ALZHEIMER'S DISEASE
Ann M. Saunders and Allen D. Roses
  Apolipoprotein-E-Genotyp und Alzheimer-Krankheit: Beziehung zu relativem Risiko, Erkrankungsalter und Verlauf
A. Kurz(1), N. Lautenschlager(1), R. Marquard(1), D. Mösch(1), R. Busch(2), R. Egensperger(3), M.B. Graeber(3), K. Altland(4) and U. Müller(4)
  Association between apolipoprotein E genotype and neuropathological phenotype in sporadic Alzheimer's disease
R. Egensperger, S. Kösel, P. Mehraein and M.B. Graeber
  Autosomal dominant cerebellar ataxia and CAG repeat expansion
C. Zühlke(1), W. Klostermann(2), K. Wessel(2) and E. Schwinger(1)
  Candidate gene approach in panic disorder: the adenosine A1 receptor
J. Deckert(1,4), M. Nöthen(1), W. Maier(2), P. Franke(2), J. Fritze(3), H. Beckmann(4), H. Ren(5), G.L. Stiles(5) and P. Propping(1)
  Cerebellar ataxia, mental retardation and retinitis pigmentosa associated with T8,993G mitochondrial DNA point mutation
E. Wilichowski(1), K. Brockmann(1), C. Korenke(1), A. Renneberg(2), J. Frahm(3) and F.Hanefeld(1)
  Coping strategies of persons at risk for late onset neuro-degenerative disorders with respect to the outcome of predictive DNA analysis
T. Haase und F. Kreuz
  Delineation of the XDP gene within a small region of Xq13.1 and characterization of two candidate genes
G. Haberhausen(1), N. Brockdorff(2), M. Fontes(3), A.P. Monaco(4) and U. Müller(1)
  Despite different location pattern, similar p53 gene mutation frequency in pediatric and adult glioblastoma
U. Sure(1), M. Hegi(2), J. Lübbe(2), A. von Deimling(2) and P. Kleihues(2)
  Die spinale Muskelatrophie Typ Kennedy (XSBMA) in der Differentialdiagnose von Motoneuronerkrankungen
W. Kress, B. Halliger-Keller und T. Grimm
  Distribution of G5460A mutant mtDNA in parkinsonian brain
N.M. Schnopp, S. Kösel, R. Egensperger, P. Mehraein and M.B. Graeber
  DNA methylation and triplet repeat stability
D. Wöhrle, M. Wolf, D. Gläser, S. Schwemmle and P. Steinbach
  Dopa-responsive dystonia (DRD): 4 new mutations of the GTP cyclohydrolase gene in British patients
O. Bandmann, C.D. Marsden and A.E. Harding
  Eine Mutation im CHRNA4-Gen als Ursache einer idiopathischen Epilepsie
O. Steinlein
  Eye tracking dysfunction as phenotypic marker in linkage studies with schizophrenia
R. Lencer(1), V. Arolt(1), S. Purmann(2), A. Nolte(1), B. Müller(3), M. Schürmann(2) and E. Schwinger(2)
  Gen-Konversion bei Dystrophia myotonica
V. Otto(1), P. Vieregge(1), M. Greiwe(2) und P. Steinbach(3)
  Genetic linkage studies in autosomal dominant parkinsonism: evaluation of candidate genes
T. Gasser(1), Z.Wszolek(2), B. Müller(3) and A. Supala(1)
  GENETICS OF DYSTONIA
Laurie Ozelius
  Geniospasm: a type of essential tremor?
A. Danek and T. Meitinger
  Hereditäre Stammgangliendegeneration mit dominantem Erbgang - eine Stammbaumstudie
M. Hund(1,2), P. Lüdemann(1) und E.B. Ringelstein(1)
  Identical twins with Huntington's disease: differences in cerebral glucose metabolism and clinical manifestation
A. Weindl(1), P. Bartenstein(2), R. Wenzel(2), M. Rehm(1), S. Spiegel(1), T. Meitinger(3), M. Schwaiger(2) and B. Conrad(1)
  Informative crossover refines mapping of the CADASIL disease locus
M. Dichgans(1), M. Mayer(1), B. Müller(2), A. Straube(1) and T. Gasser(1)
  Investigations on the point mutations at nt5460 of the mtDNA in different neurodegenerative and neuromuscular diseases
B. Janetzky(1), C. Schmid(1) , P. Riederer(2) and H. Reichmann(1)
  Isolation and characterization of two human genes similar to the region-specific homeotic Drosophila gene SPALT which show expression in the developing and adult human brain
J. Kohlhase, R. Schuh, H. Jäckle, B. Schroeder, W. Schulz-Schaeffer, H.A. Kretzschmar, A. Köhler, U. Müller, E. Burkhard, M. Raab-Vetter, W. Engel and R. Stick
  Linkage analysis and mutation screening in two large families with non-syndromic X-linked mental retardation
E. Holinski-Feder(1), A. Golla(1), I. Rost(1), H. Seidel(1), T. Strom(1), O. Rittinger(2), K. Wilke(3), T. Meitinger(1) and A. Meindl(1)
  Marinesco-Sjögren-Syndrom: neuro-myopathischer Subtyp?
J.-U. Walther(1), W. Müller-Felber(2) und M. Jensen(1)
  McLeod neuroacanthocytosis: An underdiagnosed syndrome?
M. Oechsner(1), G. Winkler(1), A. Danek(2), M. Ho(3), A.P. Monaco(3)
  Molecular analysis in Charcot-Marie-Tooth (CMT) disease and hereditary neuropathy with liability to pressure palsies (HNPP)
K.D. Bathke(1,2), D. Lorek(1), T. Liehr(1), A. Ekici(1), E. Nelis(3), C. Van Broeckhoven(3), H. Grehl(2), D. Claus(2), B. Neundörfer(2) and B. Rautenstrauß(1)
  Molecular genetic studies of variation in dopamine and serotonin receptor genes
M.M. Nöthen, S. Cichon, J. Erdmann, D. Shimron-Abarbanell and P. Propping
  Molecular genetics of adrenomyeloneuropathy
M. Vorgerd(1), S. Fuchs(2), M. Tegenthoff(1) and J.-P. Malin (1)
  Molecular genetics of human prion diseases in Germany
O. Windl(1), A. Giese(1), T. Jacobsen(1), T. Bogumil(1), M. Neumann(1), T. Weber(2), S. Poser(2) and H. Kretzschmar(1)
  Mouse models created by gene targeting to study mid-hindbrain development
W. Wurst(1,2), V. Blanquet(1,2), M. Hanks(2) and A.L. Joyner(2)
  NADH dehydrogenase and CYP2D6 genotypes in Parkinson's disease
S. Kösel, N.M. Schnopp, R. Egensperger, P. Mehraein and M.B. Graeber
  Neurofibromatosis type 2 protein merlin is highly expressed in human fibroblasts and linked to the plasma membrane
M. Kressel(1) and B. Schmucker(2)
  Neurotransmitter mediated Ca2+ signalling in human glioma and neurocytoma cells
P. Weydt, S. Patt and H. Kettenmann
  Phenotype and genotype in persistent mirror movements
A. Danek, J. Wendeborn and J. Hermsdörfer
  Phylogeny of the human dopamine D2 receptor gene (DRD2) and investigation of its association with alcoholism
U. Finckh(1), M. Giraldo-Velasquez(1), G. Otto(1), O. von Widdern(3), T. Sander(2) , L.G. Schmidt(2), H. Rommelspacher(1) and A. Rolfs(1,3)
  Role of transcription factors in microglial activation: the cAMP responsive element binding protein (CREB) is involved in microglial activation in vivo
J. Gehrmann(1), R.B. Banati(2), F. Beermann(3), E. Hummler(3), J. Blendy(4), G. Schütz(4), G.W. Kreutzberg(2) and A. Aguzzi(1)
  SOD1 Punktmutation in einer Familie mit ALS
B. Bereznai, G.D. Borasio, A. Winkler and T.Gasser
  The importance of brain banks for neurogenetic research
M.B. Graeber, S. Kösel, R. Egensperger, N.M. Schnopp and P. Mehraein
  Untersuchungen der mitochondrialen DNA bei MS-Patientinnen
U. Mayr-Wohlfart(1), G. Rödel(2), C. Paulus(3) und A. Henneberg(3)
  Use of four intragenic polymorphisms in the 3'UTR of the PMP-22 gene in the diagnosis of the 17p11.2 deletion in HNPP
P. Young (1), H. Wiebusch (2), F. Stoegbauer (1), H. Masur (1), B. Ringelstein (1), G. Assmann (2,3), and H. Funke (2,3)
 
Others -Survey 97/98 results;Inviting editorial: "Moderated pre-printservices, open peer review"
Arthur Bergen, PhD
  Invitation for pre-prints
Arthur Bergen, PhD
  Open peer review and preprint-services
Carlo Gambacorti, MD
  Preprint-services
José Eduardo de Salles Roselino
Associated Professor

   
 
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