Genetic Analysis of Families with Parkinson Disease that Carry the Ala53Thr Mutation in the Gene Encoding α-Synuclein  Aglaia Athanassiadou, Gerassimos.

Slides:



Advertisements
Similar presentations
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Advertisements

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population Lisa Edelmann,
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q  Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
The Role of MMAC1 Mutations in Early-Onset Breast Cancer: Causative in Association with Cowden Syndrome and Excluded in BRCA1-Negative Cases  Hui C. Tsou,
Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3  Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.
Schizophrenia and Affective Disorders—Cosegregation with a Translocation at Chromosome 1q42 That Directly Disrupts Brain-Expressed Genes: Clinical and.
Genetic Linkage of Paget Disease of the Bone to Chromosome 18q
Mapping of X-Linked Myxomatous Valvular Dystrophy to Chromosome Xq28
Crohn Disease: Frequency and Nature of CARD15 Mutations in Ashkenazi and Sephardi/Oriental Jewish Families  Turgut Tukel, Daniel Present, Daniel Rachmilewitz,
An Unknown Genetic Defect Increases Venous Thrombosis Risk, through Interaction with Protein C Deficiency  Sandra J. Hasstedt, Edwin G. Bovill, Peter.
Soraya Beiraghi, Swapan K. Nath, Matthew Gaines, Desh D
Frances Busfield, David L. Duffy, Janine B. Kesting, Shelley M
Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p  Shenghan Chen, William G. Ondo, Shaoqi Rao,
C. M. van Duijn, M. C. J. Dekker, V. Bonifati, R. J. Galjaard, J. J
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 
Federico Canzian, Patrizia Amati, H
A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations  C. Bourgain, E. Génin, P. Holopainen, K.
A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors  Bin.
The Future of Association Studies: Gene-Based Analysis and Replication
Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome.
A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family  H.T.F.M. Verzijl, B. van den Helm, B. Veldman,
A Gene for Arthrogryposis Multiplex Congenita Neuropathic Type Is Linked to D5S394 on Chromosome 5qter  Mordechai Shohat, Rona Lotan, Nurit Magal, Tamar.
Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion  Rýdvan S. Özen, Bora E. Baysal,
Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman 
Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21  Mari Auranen, Sirpa Ala-Mello, Joni A. Turunen,
Tristan F. W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O
Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity  Blanka Stibůrková,
A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1
Kimberly C. Sippel, Rebecca E. Fraioli, Gary D. Smith, Mary E
Two Families with Familial Amyotrophic Lateral Sclerosis Are Linked to a Novel Locus on Chromosome 16q  Deborah M. Ruddy, Matthew J. Parton, Ammar Al-Chalabi,
Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin  Shagufta Khaliq,
Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors  Ana.
Christoph Lange, Nan M. Laird  The American Journal of Human Genetics 
A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24  C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing,
Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A
Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies  Valerie A. Street, Jeff D. Goldy,
E. Warwick Daw, Simon C. Heath, Ellen M. Wijsman 
Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families  Laurent Cavalier, Karim.
Erratum The American Journal of Human Genetics
Germ-Line Mosaicism in Tuberous Sclerosis: How Common?
Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate  Irene Pichler, Fabio Marroni,
Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13 
American Journal of Kidney Diseases
Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12- q12 and Evidence for Further Genetic Heterogeneity  Judith Fischer, Alexandra.
John A. Martignetti, Karen E
A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map  Carolyn Schanen, Uta.
Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.
Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau 
Benjamin A. Rybicki, José L. Walewski, Mary J
Linkage Analysis in a Large Brazilian Family with van der Woude Syndrome Suggests the Existence of a Susceptibility Locus for Cleft Palate at 17p  
A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22  Elise Héon, Andrew D. Paterson, Michael Fraser, Gail Billingsley, Megan Priston,
Yoav Gilad, Carlos D. Bustamante, Doron Lancet, Svante Pääbo 
Quiz page answers August 2003
A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26  Milco Ciccarese, Adolfo Pacifico, Giancarlo Tonolo, Paolo.
Genome Screen to Identify Susceptibility Genes for Parkinson Disease in a Sample without parkin Mutations  Nathan Pankratz, William C. Nichols, Sean K.
A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23  Young-Ae Lee, Howard P.
A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13
A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12
Alice S. Whittemore, Jerry Halpern 
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13  I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives,
Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome  L.M. Brzustowicz, S. Farrell, M.B. Khan,
Presentation transcript:

Genetic Analysis of Families with Parkinson Disease that Carry the Ala53Thr Mutation in the Gene Encoding α-Synuclein  Aglaia Athanassiadou, Gerassimos Voutsinas, Lambrini Psiouri, Elisabeth Leroy, Mihael H. Polymeropoulos, Achilleas Ilias, George M. Maniatis, Thodoros Papapetropoulos  The American Journal of Human Genetics  Volume 65, Issue 2, Pages 555-558 (August 1999) DOI: 10.1086/302486 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Chromosome 4 haplotype analysis of families carrying the Ala53Thr mutation. The unblackened and blackened symbols represent unaffected and affected individuals, respectively. Roman numerals indicate generations, and arabic numerals indicate individuals. The shared haplotype is boxed. The American Journal of Human Genetics 1999 65, 555-558DOI: (10.1086/302486) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Feedback: Privacy Policy Feedback
Do Not Sell My Personal Information
About project: SlidePlayer Terms of Service

© 2025 SlidePlayer.com. Inc. All rights reserved.