61. Friedreich's Ataxia (FA) | MDA Ironing Out Friedreich's ataxia 10/97. top Simply Stated genetics Myths 12/01; SimplyStated - Clinical Trials 10/01; Simply Stated - Neuromuscular Terminology 8 http://www.mdausa.org/disease/fa.html

Friedreich's Ataxia (FA) Click for and MDAchats Bookmark this page! It's your source for information and news about FA and will be updated regularly. Quick Definition: Childhood to adolescence. Impairment of limb coordination, with weakness and muscle wasting. Severity and progression of disorder vary. Often associated with diabetes/heart disease. Autosomal recessive. Find Your Local MDA Do you need to find MDA in your city? Enter your Zip code here for where to turn for clinics and medical services; support groups; summer camp; local events and volunteer and fund-raising opportunities close to home. For more articles and references, please use the search feature Basic References Special FA Materials FAQ's and Simply Stated Articles ... News Releases Basic References Facts About Friedreich's Ataxia "Ask the Experts" Responses about FA "Ask the Experts" Responses to General Neuromuscular Questions Genetics and Neuromuscular Diseases ... General Interest Publications Special FA Materials Antioxidant May Help Heart in Friedreich's Ataxia Friedreich's Ataxia Update - New Mouse Model of Friedreich's Ataxia Created Ironing Out Friedreich's Ataxia FAQ's and Simply Stated... Articles

62. NAF Publications ataxia. Consult your physician first. Friedreich's ataxia Describessymptoms, diagnosis, genetics, and hints on coping. Gene Testing http://www.ataxia.org/publ.html

NAF Publications There are several publications edited by NAF. They include Fact Sheets and Brochures , a quarterly newsletter named Generations Books and Booklets and Video Tapes . Many of the publications may be ordered using this order form , which may be completed and FAXed or mailed to the NAF. Instructions are included on the form. Please contact NAF for more information regarding these items or to order in large quantities. Books and Booklets "Hereditary Ataxia: A Guidebook for Managing Speech and Swallowing Problems: Written in 1982, but still helpful, it describes problems, exercises, and suggestions. Cost is $3.50, which includes S&H. "Living With Ataxia" by Martha Nance, MD (1997) A compassionate, easy to understand explanation, and ideas on how to live with ataxia. Cost is $10.00 + $3.00 S&H. "Spinocerebellar Ataxia: Making an Informed Choice About Genetic Testing" written by the University of Washington Medical Center This booklet provides information about dominant forms of spinocerebellar ataxia (SCA) and genetic testing for SCA. Cost is FREE for single copies. "Ten Years to Live" by Henry Schut The story of the Schut family's struggle with hereditary ataxia and the impact it had on this extended family. Paperback; photos. Cost is $8.75, including S&H.

63. Ataxia: Recessive Chromosome 9q34.3 (Some families) genetics Locus near ataxia withOculomotor apraxia (AOA); Onset Infantile; Neurologic Features http://www.neuro.wustl.edu/neuromuscular/ataxia/recatax.html

Front Search Index Links ... Ataxia-Oculomotor Apraxia 1 (AOA1): Aprataxin; 9p13 Ataxia-Oculomotor Apraxia 2 Ataxia telangectasia : ATM; 11q22 Ataxia telangectasia-like (ATLD): MRE11; 11q21 Ataxia with neuropathy Baltic Myoclonus (Unverricht-Lundborg) : Cystatin B; 21q22 Cayman ataxia Cerebelloparenchymal disorders (CPD): II III IV V ... Charlevoix-Saguenay - Spastic Ataxia : Sacsin; 13q12 Cockayne Syndrome Coenzyme Q10 deficiency Cytochrome c Oxidase I : Mitochondrial Early onset with retained reflexes (EOCA) Friedreich ataxia : Frataxin (FRDA); 9q13 Friedreich ataxia 2 (FRDA 2): 9p23 Hypogonadism Infantile Onset Spinocerebellar Ataxia Leukoencephalopathy with vanishing white matter Macular dystrophy ... Salla syndrome (Sialic acid storage): SLC17A5; 6q14 Vitamin E deficiency a -tocopherol transfer protein; 8q13 Xeroderma pigmentosum Metabolic ataxias Abetalipoproteinemia : MTP; 4q22 Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis g ... Hyperammonemic : Urea cycle Hypobetalipoproteinemia : APOB; 2p24, 3p22 L-2 Hydroxyglutaric acidemia Maple Syrup Urine Disease : BCKDH; 19q13 Niemann-Pick, Type C

64. Center For Genetics - Genetic Disorders Center for genetics Friedreich's ataxia is an inherited neurodegenerativedisorder with progressive loss of muscle strength and control. http://www.idph.state.ia.us/fch/fam_serv/genetics/gen-disorders.html

65. General Timeline Nature genetics Autosomal dominant cerebellar ataxia (SCA6) associated with smallpolyglutamine expansions in the alpha1A-voltage-dependent calcium channel. http://www.backmeup.net.au/usr/scars/research/research02.htm

Last Modified: Wednesday, May 19, 1999 Spino-Cerebellar Ataxia Created by Home Contents FrontPage General Info ... Links General Ataxia Research timeline November 1997 "Human Molecular Genetics" - Increased trinucleotide repeat instability with advanced maternal age October 1997 "Nature" - Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures *** Mouse modelling of CAG repeat disorders possible *** "Human Molecular Genetics" - Transgenic Models of Huntington's Disease "Archives of Neurology" - Analysis of Fast Single-Joint and Multijoint Movements in Cerebellar Cortical Atrophy: Failure of L-Hydroxytryptophan to Improve Cerebellar Ataxia September 1997 *** SCA7 Gene is Cloned! *** "Nature Genetics" - Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion "Archives of Neurology" - Spinocerebellar Ataxia Type 2: Genotype and Phenotype in German Kindreds August 1997 *** Scientists discover cause of brain cell death in CAG repeat disorders *** "Nando Times" - In major advance, scientists discover cause of brain cell death

66. Beyond The Crystal Ball -- Public Health Genetics Spinocerebellar ataxia Huntington Disease Dentatorubral PallidoluysianAtrophy (DRPLA) Friedreich ataxia. Adult genetics An Overview. http://www.dhs.vic.gov.au/phd/genetics/crystalball.htm

Home News Topics Publications ... Contact Information Beyond the Crystal Ball The epidemiology of some genetic conditions in Victoria 2002 page content: foreword contact information contents download pdf Foreword A paediatrician once said to the parents of a tiny baby with a congenital condition: 'we don't have a crystal ball to tell you about the future of your child'. This concept of a fortune teller's crystal ball highlights the need to predict distant events for the child, the parents and the support services that may be necessary for the child to enjoy a high quality of life. For the parents of this newly diagnosed baby, such knowledge would enable them to make informed choices about the future. Unfortunately, there is no crystal ball. Current scientific advances, such as the human genome project and associated technology, are moving rapidly and many diagnostic, prognostic and possibly curative technologies are imminent. However, even with these advances, the future of any one individual is still hard to predict, partly because the conditions are still very complex and may be expressed in many ways. The major steps in an evidence-based public health approach are to define the extent of the problem, identify causes, develop tests and interventions, implement effective interventions and evaluate them. This descriptive epidemiology report is the first stage of enhancing surveillance of the incidence and prevalence of genetic disorders, and the impact of Victorian services. It is the initial stage of a coordinated public health surveillance system that describes the level of testing for, and the number of people with or carriers of, some common genetic conditions in Victoria. Service providers will find this information useful in planning services, for health advocacy, monitoring and evaluating programs, and for education and policy development. It will also provide further information about conditions for service users.

67. Searle Scholar Profile Harry T. Orr (1981) return to top . Molecular Nneurogenetics, Spinocerebellar ataxia,Major Histocompatibility Complex genetics. Dr. Orr's research http://searle.bio.jhu.edu/people/orr.html

68. BIO-MEDICAL SCIENCES Genetics BIOMEDICAL SCIENCES genetics. Predominance of Mutations with Extensive Deletionsin ataxia Telangiectasia Lymphoblastoid Cells Treated with Ionizing Radiation. http://www.nirs.go.jp/report/nene/H8/nene-08.htm

BIO-MEDICAL SCIENCES Genetics Cryopreservation of Embryo and Spermatozoa for Strain Maintenance of Mice A Recessive Lethal Mutation, tb , That Bends the Midbrain Region of the Neural Tube in the Early Embryo of the Medaka ... Subcellular Localization and Expression of the Human DNA Double-Strand Break Repair Genes Ku p70, Ku p80/XRCDC5 and DNA-PKcs a Higher Contents 48. Cryopreservation of Embryo and Spermatozoa for Strain Maintenance of Mice Masanori Okamoto, Tsuneya Mastumoto, Naomi Nakagata‚P and Hiroshi Suzuki‚Q (‚PInstitute of Medical Science, Univ. of Tokyo, ‚QChugai Pharmaceutical Co., Ltd.) Keywords: cryopreservation, embryo, mouse, spermatozoa, strain maintenance Publications: 1) Okamoto, M. and Mastumoto, T. : Germfree Life and its Ramifications, K.Hashimoto et al.(eds.), XIIth ISG Publishing Committee, 21-24, 1996. 2) Aoki, K., Okamoto, M., Tatsumi, K. and Ishikawa, Y. : Zoological Science, 14, 641-644, 1997. 3) Nakagata, N., Okamoto, M., Ueda, O. and Suzuki, H.FBiol. Reprod., 57, 1050-1055, 1997. 4) Okamoto, M., Nakagata, N., Ueda, O., Kamada, N. and Suzuki, H.FJ. Mamm. Ova Res., 15, in press, 1998

69. BIO-MEDICAL SCIENCES Genetics Toshimichi Ikemura, and Kazuei Mita (National Institute of genetics,Tokai Keywords ataxia telangiectasia, ATM, NPAT, chromosome 11q2223 http://www.nirs.go.jp/report/nene/H7/07.htm

BIO-MEDICAL SCIENCES Genetics Allelic Losses at the APRT Locus in Human Cells Hypomutability by ¦-rays of Thymic Lymphoma Cells Derived from a SCID Mouse Heritable Malformations in the Progeny of the Male Medaka (Oryzias latipes) Irradiated with X-rays Production of Germfree Mouse by Embryo Transfer ... Chromosomal Localization of the Mouse and Rat DNA Double-Strand Break Repair Genes Ku p70 and Ku p80¡¿XRCC5, and their mRNA Expression in Various Mouse Tissues a Higher Contents 1.Allelic Losses at the APRT Locus in Human Cells Kouichi Tatsumi, Akira Tachibana¡ö, Akira Fujimori, Yuko Fujimori-Houki and Masao S. Sasaki¡ö (¡öKyoto Univ.) Keywords: adenine-phosphoribosyltransferase, 2,6-diaminopurine resistance, LOH, RFLP, microsatellite locus, mitotic recombination [Publications] a Higher Contents Contents Next a Higher Next 2.Hypomutability by ¦-rays of Thymic Lymphoma Cells Derived from a SCID Mouse Ikuko Furuno-FukushiI, Kouichi Tatsumi, Ikuko Furuno-Fukushi, Kouichi Tatsumi, Masahiro Muto, Hirobumi Teraoka¡ö, Fumiaki Watanabe and Toshiaki Ogiu (¡öTokyo Medical and Dental Univ.) Keywords : SCID mouse, ¦-rays, mutant induction, Hprt, DNA dependent PK

70. Untitled 1989. genetics and Friedreich ataxia. Louisiana Chapter Nationalataxia Foundation meeting, Lafayette, September, 1989. Mapping http://www.medschool.lsuhsc.edu/genetics/Faculty/KeatsPRES.htm

Bronya J. B. Keats Invited Presentations "Maximum likelihood estimation of the human linkage map." LSU Health Sciences Center, New Orleans, October, 1983. "Genetic studies in hereditary Ataxias." LSU Health Sciences Center, New Orleans, January, 1984. "Effects of random drift and selection on allele frequencies." Tulane Medical Center, New Orleans, May,1984. "Hereditary Ataxia in Acadiana." German-Acadian Coast Historical and Genealogical Society, Reserve, Louisiana, May, 1984. "Hereditary Ataxia and the Cajun connection." Governor's Conference for Disabled Persons, Baton Rouge, October, 1984. "Pedigree discriminant analysis applied to two French-Canadian Tay Sachs families." LSU Health Sciences Center, New Orleans, November, 1984. "Friedreich Ataxia: The Cajun Connection." National Ataxia Foundation Annual Membership meeting, New Orleans, February, 1985. "The status of the human gene map." John Curtin School of Medical Research, Canberra, January, 1986. "Friedreich Ataxia in the Acadian population of south-western Louisiana." Southern Genetics Group, Navarre Beach, Florida, July, 1986.

71. Swisstox.net - An Introduction To Genetics And Genetic Testing: When Your Baby H An Introduction to genetics and Genetic Testing When Your Baby Has a 1 and NF2)- Sturge-Weber syndrome - Tuberous sclerosis (TS) - ataxia-telangiectasia (AT http://www.swisstox.net/en/news_e.php?st_lang_key=en&st_news_id=826

72. Save On Health Books Concerning Ataxia ataxiatelangiectasia genetics, Neuropathology, And Immunology Of A DegenerativeDisease Of Childhood Proceedings Of A Conference Held In Solvang http://www.healthlinkusa.com/bookpage/30_1.html

FREE. Would you like your site listed on HealthlinkUSA. Click here Today's Health Facts Find Drug Information ... Talk Health Thursday April 03, 2003 Save on 1,000's of health books concerning 100's of different health topics! Ataxia Books Register here. It's Free! Be notified when there are updates to Ataxia books. Enter to Win a CD Player! To learn more about an individual book, or to make a purchase, just click on the title. Tell A Friend! Take a minute to tell a friend about HealthlinkUSA. Enter to Win a CD! Check all the Ataxia book pages for the largest selection. HealthlinkUSA site last updated: Thursday April 03, 2003 Visit At Least Once A Week! We add new books regularly. Page 1 of 2 Next Ataxia-telangiectasia (nato Asi Series. Series H. Cell Biology, Vol 77) Richard A. Gatti, Robert B. Painter (editor) The Clumsy Child : A Study Of Developmental Apraxic And Agnostic Ataxia Sasson S. Gubbay Friedrich's Ataxia; A Patient's Own Story Florence Mayor A Balancing Actliving With Spinal Cerebellar Ataxia Ataxia-telangiectasia : Genetics, Neuropathology, And Immunology Of A Degenerative Disease Of Childhood : Proceedings Of A Conference Held In Solvang, California, January 16-20, 1984 Ataxia-yelangiectasia Hardcover / Published 1993 The Inherited Ataxias : Biochemical, Viral, And Pathological Studies

73. Selected Clinical Links Of Medical Genetics Of The University Of Geneva Medical Translate this page College of Medical genetics. Patients. Quelques sites et associations de patientsanglophones. Association Charcot-Marie-Tooth. Angelman Syndrome Foundation. ataxia- http://medgen.unige.ch/links/clinical.html

Liens locaux FMH International Federation of Human Genetics Societies The European Society of Human Genetics The British Society of Human Genetics ... The American Academy of Pediatrics Ethique Bioethics section of the Council of Europe Directorate of Legal Affairs Bioethics International Calendar European Database on Bioethics, supported by the European Commission and coordinated by France, Germany, Netherlands and Sweden Genetics and Ethics ... Policy Statements of the American College of Medical Genetics Patients Quelques sites et associations de patients anglophones Association Charcot-Marie-Tooth Angelman Syndrome Foundation Ataxia-Telangiectasia Children's project Cri-du-Chat Syndrome Support Group ... Williams syndrome Association Quelques sites et associations de patients francophones Association Belge de Lutte contre la Mucoviscidose Association Charcot-Marie-Tooth-France Association contre les Maladies Mitochondriales Association du Cri du Chat Suisse ... Trisomie 21 Liens cliniques pour les professionnels BioMedNet CEPH Cystic Fibrosis Mutation Data Base Gene Clinics ... DGM Contacts

74. WE MOVE (pediatric) - Dyskinesias (Paroxysmal) - Genetics PAROXYSMAL DYSKINESIAS genetics PKD, PNKD, PED, PHD, EPISODIC ataxia.16p11.2q12.1 (ICCA), 2q33-35 (anion exchanger SLC2C), 16p12-q12 http://www.wemove.org/kidsmove/pdys_gen.html

go to: Top of Section Genetics The paroxysmal dyskinesias , including paroxysmal kinesigenic dyskinesia (PKD), non-kinesigenic dyskinesia (PNKD), exertion-induced dyskinesia (PED), and hypnogenic dyskinesia (PHD), are usually idiopathic (primary) conditions that occur for unknown reasons. Idiopathic PKD, PNKD, PED, or PHD may be familial, with autosomal dominant inheritance, or appear to occur randomly for unknown reasons (sporadically). The paroxysmal dyskinesias, however, may occur secondary to other underlying disorders, conditions, or other factors. Genetic studies have mapped some but not all families of PKD to chromosome 16 (16p11.2-q11.2). This region overlaps with that of another autosomal dominant disorder known as familial infantile convulsions and paroxysmal choreoathetosis (ICCA syndrome). The disorder is characterized by seizures during infancy and transient, non-kinesigenic episodes of involuntary movement. Some researchers suggest that these disorders may result from different mutations of the same gene or mutations of different genes within this chromosomal region. In other patients with idiopathic PKD, there is no apparent family history of the disease. Researchers suggest that such cases may be due to spontaneous (sporadic) genetic mutations that occurred for unknown reasons. In addition, some apparently sporadic cases may actually have been inherited; according to some investigators, this may be suggested by the fact that there are no apparent differences between familial and sporadic PKD regarding the frequency and duration of episodes, nature of the involuntary movement patterns (phenomenology), or response to treatment. Although many reports indicate that most cases of PKD are familial, other investigators suggest that sporadic (and secondary or symptomatic) disease may be more common than previously recognized.

75. UCI Health Sciences Homepage: Microbiology & Molecular Genetics: Faculty And Res For example, jolting results from a single amino acid change in a sodium channelexpressed in the cerebellum, causing ataxia and involuntary movements. http://www.ucihs.uci.edu/microbio/facultyResearch/faculty/goldin.html

Alan L. Goldin M.D./Ph.D., University of Michigan, 1983 University of California, Irvine Medical Sciences I, Irvine, CA 92697-4025 agoldin@uci.edu UCI Faculty Profile:Alan L. Goldin Track Affiliations: Research Interests: Diseases Caused by Ion Channel Defects. Diseases Caused by Ion Channel Defects: Cell Biology of Ion Channels: Other Research Interests: For further information, please see the Goldin Lab Home Page. Selected Publications: Shih, T.M. and A.L. Goldin. 1997. Topology of the Shaker potassium channel probed with hydrophilic epitope insertions. J. Cell Biol. 136:1037-1045. Smith, M.R. and A.L. Goldin. 1997. Interaction between the sodium channel inactivation linker and domain III S4-S5. Biophys. J. 73:1885-1895. Kontis, K.J. and A.L. Goldin. 1997. Sodium channel inactivation is altered by substitution of voltage sensor positive charges. J. Gen. Physiol. 110:403-413. Smith, M.R., R.D. Smith, N.W. Plummer, M.H. Meisler and A.L. Goldin. 1998. Functional analysis of the mouse scn8a sodium channel. J. Neurosci. 18:6093-6102.

76. A Hereditary Ataxia Caused By Huntington's-Type "Genetic Stutter" Orr, HT, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellarataxia type 1. Nature genetics, Vol. 4, pp. 2216, July, 1993. http://accessible.ninds.nih.gov/news_and_events/pressrelease_sca1_063093.htm?typ

77. Congressman William Tauzin - LA03 and Education requesting appropriations for the Center for Acadiana genetics andHereditary Keith is afflicted with Friedreich's ataxia which occurs in the http://www.house.gov/tauzin/houseapp021804.htm

Testimony of Congressman Billy Tauzin House Appropriations Subcommittee on Labor, Health and Human Services April 18, 2002 The Center brings clinical services and education regarding genetic diseases to the medically underserved Acadian population living in rural parishes of Louisiana. It provides: * Outreach clinics on genetic disorders. * Public symposia on genetics. * Continuing education for health care providers. * Genetic counselors for existing community programs. * Patient education materials on genetic disorders. * Continuing education for science teachers at elementary and high schools. * Presentations on genetics for community groups. * A newsletter, "Linkage", as an educational tool. patients. The Center at LSU has participated in the planning for that drug Back Home

78. SpringerLink: Human Genetics - Abstract Volume 97 Issue 5 (1996) Pp 671-676 Human genetics. Autosomal dominant cerebellar ataxia type I in Martinique (FrenchWest Indies) genetic analysis of three unrelated SCA2 families. http://link.springer.de/link/service/journals/00439/bibs/6097005/60970671.htm

Human Genetics ISSN: 0340-6717 (printed version) ISSN: 1432-1203 (electronic version) Table of Contents Abstract Volume 97 Issue 5 (1996) pp 671-676 Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families Received: 13 June 1995 / Revised: 8 September 1995 Abstract Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative disorders that are clinically and genetically heterogeneous. We report here a genetic linkage study, with five chromosome 12q markers, of three Martinican families with ADCA type I, for which the spinocerebellar ataxia 1 (SCA1) locus was excluded. Linkage to the SCA2 locus was demonstrated with a maximal lod score of 6.64 at = 0.00 with marker D12S354. Recombinational events observed by haplotype reconstruction demonstrated that the SCA2 locus is located in an approximately 7-cM interval flanked by D12S105 and D12S79. Using the z max Article in PDF-Format Last change: February 23, 1997 helpdesk.link@springer.de

79. NeuroCAST - Genetics And Diagnosis Of Mitochondrial Disorders population genetics better describes mitochondrial inheritance than mendelian genetics. withKSS also have atypical pigmentary retinopathy, ataxia, and heart http://www.neurocast.com/site/content/sessions_02_2002.asp

Mitochondria are the intracellular organelles that supply most of a cell's energy needs by producing adenosine triphosphate (ATP) through oxidative phosphorylation. More recently, mitochondria have also been found to play a central role in programmed cell death, or apoptosis. In addition to these well-known tasks, mitochondria are also responsible for a variety of other metabolic functions specific to the almost 250 different cell types in the human body. Mitochondria are unique organelles in that they contain their own DNA (mtDNA), which is distinct from the DNA in the cell nucleus (nDNA). Thus, proper mitochondrial function depends on the coordinated expression of both the nuclear and mitochondrial genomes and therefore, mitochondrial dysfunction can arise from mutations in either genome (Figure 1). This article is a brief review of mitochondrial genetics, disorders, and their diagnosis for neurologists, geneticists, genetic counselors, and other healthcare professionals involved in the care of people with complex neurological diseases that may be due to mitochondrial dysfunction. Figure 1.

80. HUM-MOLGEN Archive: NEWS: In Bioscience And Medicine postings by chronological order) 1 Human and Mouse genetics net sources 2 National ataxia Foundation now ONLINE http://www.hum-molgen.de/mail-archive/1996-Feb/msg00000.html

home genetic news bioinformatics biotechnology ... register for news alert (free) Frank Zollmann: NEWS: in Bioscience and Medicine archive of HUM-MOLGEN mails Author Prev Author Next Thread Prev ... HUM-MOLGEN@NIC.SURFNET.NL Subject : NEWS: in Bioscience and Medicine From frank.zollmann@stud.uni-rostock.de Date : Sun, 4 Feb 1996 20:32:04 0100 Organization: University of Rostock http://www.informatik.uni-rostock.de/HUM-MOLGEN/NewsGen/ http://www.informatik.uni-rostock.de/HUM-MOLGEN/ http://www.ccc.nottingham.ac.uk/~mbzsrs/HMG.HTML http://www.informatik.uni-rostock.de/HUM-MOLGEN/documents/books/0005.html ... http://www.informatik.uni-rostock.de/HMB-NewsGen/vw3news?postF For other announcements please take a look at http://www.informatik.uni-rostock.de/HUM-MOLGEN/hum/submit.html Prev by Author: NEWS: in Bioscience and Medicine Next by Author: ETHI: Johns Hopkins and Oncormed Prev by thread: LITE: Nucleic Acids Research 24:03 Next by thread: NEWS: in Bioscience and Medicine Index(es): Author Thread home genetic news ... sitemap Mail converted by MHonArc WWW: Kai Garlipp Frank S. Zollmann

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