21. Joubert Syndrome joubert syndrome is a rare, genetic disorder that affects the area of the brainthat controls balance and coordination. Subscribe now . joubert syndrome. http://healthlink.mcw.edu/article/921771576.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Joubert Syndrome Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation. Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored. The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

22. CHDD Center - Joubert Syndrome REA Research Emphasis Area on joubert syndrome, Coordinator Phillip F. Chance,MD. joubert syndrome is an autosomal recessive developmental http://depts.washington.edu/chdd/MRDDRC/REAs/JoubertREA.html

Site Map MRDDRC UCEDD Organization ... Admin Research Emphasis Area on Joubert Syndrome Coordinator: Phillip F. Chance, MD In addition, there are several related conditions with retinal, renal, and/or hepatic manifestations that share the molar tooth sign on MRI, thereby increasing the prevalence of this distinctive hindbrain malformation. Other developmental disorders of the cerebellum of interest to this Research Emphasis Area (REA) that are distinct from the molar tooth group of disorders include the Dandy-Walker malformation and Dandy-Walker variants, a relatively prevalent group of hindbrain disorders consisting of partial agenesis of the cerebellar vermis, cystic dilatation of the 4th ventricle of the brain, and hydrocephalus. Pontocerebellar hypoplasia and cerebellar hypoplasia are poorly understood disorders characterized by congenital malformations and/or early-onset atrophy of the pons and/or cerebellum, a heterogeneous group of conditions which may be associated with other birth defects in some cases. In contrast to the dogma that the cerebellum has a limited role in cognitive development, learning delays and/or mental retardation are almost universal in individuals with Joubert syndrome and many of these cerebellar malformation conditions. The Joubert syndrome REA represents an interdisciplinary collaboration by investigators with the shared purpose to understand cerebellar malformation conditions and their impact on learning.

23. Joubert Syndrome - Wikipedia, The Free Encyclopedia joubert syndrome Information, Diagnosis, Treatment, Prevention home genetic disorders joubert syndrome joubert syndrome. Web Directory? joubert syndrome Information sheet compiled by NINDS. http://en.wikipedia.org/wiki/Joubert_syndrome

Joubert syndrome From Wikipedia, the free encyclopedia. Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem . The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea , sleep apnea, abnormal eye and tongue movements, and hypotonia . Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation. Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored. The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation. edit External link NINDS Joubert Syndrome Information Page http://www.ninds.nih.gov/health_and_medical/disorders/joubert.htm

24. Joubert Syndrome joubert syndrome is a very rare neurological disorder involving a malformationof the area of the brain that controls balance and coordination. http://www.bchealthguide.org/kbase/nord/nord20.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord20"; var hwDocTitle="Joubert Syndrome"; var hwRank="1"; var hwSectionHWID="nord20"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Joubert Syndrome Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV Cerebelloparenchymal Disorder IV Familial Chorireninal Coloboma-Joubert Syndrome Hyperpnea, Episodic-Abnormal Eye Movement Joubert-Bolthauser Syndrome Kidneys, Cystic-Retinal Aplasia Joubert Syndrome Polydactyly-Joubert Syndrome Retinal Aplastic-Cystic Kidneys-Joubert Syndrome Vermis Aplasia Vermis Cerebellar Agenesis Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Dandy Walker Syndrome Leber's Congenital Amaurosis Hydrocephalus General Discussion Joubert Syndrome is a very rare neurological disorder involving a malformation of the area of the brain that controls balance and coordination. Generally motor activity is slowed (psychomotor retardation) and there are abnormal eye movements. Respiratory irregularities, including rapid panting, may occur during infancy.

25. Joubert Syndrome Mutual support and sharing of knowledge for parents of children with Joubertsyndrome. Aims to educate physicians and support team. joubert syndrome. http://www.bchealthguide.org/kbase/shc/shc29jou.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29jou"; var hwDocTitle="Joubert Syndrome"; var hwRank="1"; var hwSectionHWID="shc29jou"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; Self Help Clearinghouse Joubert Syndrome Joubert Syndrome Foundation International network. 7 chapters. Founded 1992. Mutual support and sharing of knowledge for parents of children with Joubert syndrome. Aims to educate physicians and support team. Information, family registry, quarterly newsletter, family networking, research registry, and biennial conference. WRITE: Joubert Syndrome Fdn. 6931 South Carlinda Ave. Columbia, MD 21046 CALL: 410-997-8084 E-MAIL: joubert@joubertsyndrome.org WEBSITE: www.joubertsyndrome.org VERIFIED: 5/5/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

26. TheFetus.net - Joubert Syndrome -Sosa Olavarría, A, MD joubert syndrome. Sosa Olavarría, A, MD. Perinatology, Carabobo University, Valencia– Venezuela. Prenatal scan of a fetus with joubert syndrome. http://www.thefetus.net/page.php?id=123

27. Joubert Syndrome Articles, Support Groups, And Resources joubert syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). joubert syndrome. http://www.medhelp.org/HealthTopics/Joubert_Syndrome.html

[Health Topics A-Z] A B C D ... Z Joubert Syndrome Ask The Doctor Forums Joubert Syndrome (Neurology and Neurosurgery Forum) Support Groups: Joubert Syndrome Foundation [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 6/2/2004

28. Joubert Syndrome Subject joubert syndrome Topic Area Neurology General Forum The Neurology andNeurosurgery Forum Question Posted By Cathy on Tuesday, September 16, 1997 http://www.medhelp.org/forums/neuro/archive/1661.html

Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Joubert Syndrome Topic Area: Neurology - General Forum: The Neurology and Neurosurgery Forum Question Posted By: Cathy on Tuesday, September 16, 1997 Posted by CCF Neurology MD on September 19, 1997 at 03:00:01: In Reply to: Joubert Syndrome posted by Cathy on September 16, 1997 at 17:37:14: : My two year old son has had several neurological problems since birth, with no diagnosis. In March of 97 he had an MRI done. The Impression was, Moderate enlargement of Lateral Ventricles, suggestion of reduced cerebral white matter. Cerebellar Malformation, with hypoplasia of the interior cerebellar vermis and relative enlargement of the cerebellar hemispheres. It appears to be an incomplete Joubert Syndrome. Please help me understand this My son is very smart. He does not talk or walk, but understands what we say. Is it possible to have a mild case of Joubert Syndrome? If so, what does this say for his furture? Any help or info will be greatly appreciated.

29. Joubert Syndrome joubert syndrome Important It is possible that the main title of thereport joubert syndrome is not the name you expected. Please http://my.webmd.com/hw/health_guide_atoz/nord20.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Joubert Syndrome Important It is possible that the main title of the report Joubert Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV Cerebelloparenchymal Disorder IV Familial Chorireninal Coloboma-Joubert Syndrome Hyperpnea, Episodic-Abnormal Eye Movement Joubert-Bolthauser Syndrome Kidneys, Cystic-Retinal Aplasia Joubert Syndrome

30. Joubert Syndrome joubert syndrome Foundation. joubert syndrome joubert syndrome Foundation Mutual supportand sharing of knowledge for parents of children with joubert syndrome. http://my.webmd.com/hw/health_guide_atoz/shc29jou.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Joubert Syndrome Foundation Joubert Syndrome Joubert Syndrome Foundation International network. 7 chapters. Founded 1992. Mutual support and sharing of knowledge for parents of children with Joubert syndrome. Aims to educate physicians and support team. Information, family registry, quarterly newsletter, family networking, research registry, and biennial conference. WRITE: Joubert Syndrome Fdn. 6931 South Carlinda Ave. Columbia, MD 21046 CALL: 410-997-8084 E-MAIL: joubert@joubertsyndrome.org WEBSITE: www.joubertsyndrome.org VERIFIED: 5/5/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

31. Healthfinder® - Joubert's Syndrome Carefully selected government and nonprofit health information on Joubert s Syndrome.healthfinder® home page, details joubert syndrome Foundation, Inc. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=952

32. Healthfinder® — Joubert Syndrome Foundation, Inc The joubert syndrome Foundation, Inc. was founded to share knowledge, experiencesand emotional support with those affected by joubert syndrome. http://www.healthfinder.gov/orgs/HR2531.htm

health library just for you health care organizations search: help Joubert Syndrome Foundation, Inc organization URL(s) joubert@joubertsyndrome.org www.joubertsyndrome.org other contact information 6931 South Carlinda Columbia, MD 21046 410-997-8084 (Voice, ) description The Joubert Syndrome Foundation, Inc. was founded to share knowledge, experiences and emotional support with those affected by Joubert Syndrome. Joubert Syndrome is the agenesis of the cerebellar vermis characterized clinically by attacks of tachypnea or prolonged apnea, abnormal eye movements, ataxia and mental retardation. The Foundation also offers opportunities to participate in research. online resources FAQ - About Joubert Syndrome http://www.joubertfoundation.com/JoubertFAQ's.htm Joubert Syndrome Information Center http://www.joubertfoundation.com/JS%20Information.htm Joubert Syndrome Resources http://www.joubertfoundation.com/JS%20Resources.htm print resources Newsletters and videotapes are available. related topics Apnea Ataxia Telangiectasia Mental Retardation Nervous System Diseases Joubert's Syndrome review date Wed Apr 15, 1998

33. Syndroom Van Joubert Vermis Aplasia Cerebellarparenchymal Disorder IV Cerebelloparenchymal Disorder IVFamilial Chorireninal Colobomajoubert syndrome Hyperpnea Episodic-Abnormal http://www.erfocentrum.nl/zena/joube.php

erfelijkheid.nl winkel mail ons nieuwsbrief ... sitemap ZIEKTEN EN AANDOENINGEN ERFELIJKHEID LITERATUUR (PARA)MEDICI Beginpagina ... Ziekten en aandoeningen Syndroom van Joubert Syndroom van Joubert Synoniemen Cerebellar Vermis Agenesis Hypernea Episodic-Eye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV Cerebelloparenchymal Disorder IV Familial Chorireninal Coloboma-Joubert Syndrome Hyperpnea Episodic-Abnormal Eye Movement Joubert-Bolthauser Syndrome Kidneys Cystic-Retinal Aplasia Joubert Syndrome Polydactyly-Joubert Syndrome Retinal Aplastic-Cystic Kidneys-Joubert Syndrome Vermis Aplasia Vermis Cerebellar Agenesis Korte beschrijving Het syndroom is een bijzonder zeldzame neurologische aandoening. De hersenstructuur is onvoldoende ontwikkeld, wat een verminderde spierspanning, ontwikkelingsachterstand, abnormale ademhaling en abnormale oogbeweging als gevolg heeft. Diagnose De diagnose kan worden gesteld door intensief neurologisch onderzoek. Behandeling Er is geen behandeling bekend voor het syndroom van Joubert. Voorkomen Extreem zeldzaam.

34. Joubert Syndrome Information Diseases Database joubert syndrome,JoubertBoltshauser syndrome,Cerebelloparenchymal disordertype 4,CPD IV,Familial aplasia of vermis, Disease Database Information. http://www.diseasesdatabase.com/ddb30688.htm

Diseases Database Index Sponsors Contact ... Previous Page Joubert syndrome Information Search 5 synonyms or equivalents were found. Joubert syndrome aka/or Joubert-Boltshauser syndrome aka/or Cerebelloparenchymal disorder type 4 aka/or CPD IV aka/or Familial aplasia of vermis may cause or feature (Follow link for list) may be associated with (Follow link for list) belong(s) to the category of (Follow link for list) Joubert syndrome: Definition(s) via UMLS Code translations and terms via UMLS Joubert syndrome: specific sites Send Joubert syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-02 23:14:35 Metadata Updated 2004-05-22

35. Health Library - joubert syndrome. Cerebellarparenchymal Disorder IV; CerebelloparenchymalDisorder IV Familial; Chorireninal Colobomajoubert syndrome; http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

36. Joubert Syndrome - Encyclopedia Article About Joubert Syndrome. Free Access, No encyclopedia article about joubert syndrome. joubert syndrome in Free onlineEnglish dictionary, thesaurus and encyclopedia. joubert syndrome. http://encyclopedia.thefreedictionary.com/Joubert syndrome

Dictionaries: General Computing Medical Legal Encyclopedia Joubert syndrome Word: Word Starts with Ends with Definition Joubert syndrome is a rare, genetic disorder A genetic disorder , or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects: They may be caused by an unwelcome mutation, as are most cancers. There are genetic disorders caused by the accidental duplication of a chromosome, as in Down syndrome, or repeated duplication of part of a chromosome as in Fragile X syndrome. The defective genes are often inherited from the person's parents. In this case, the genetic disorder is known as a hereditary disease . This can often happen unxpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant. Click the link for more information. that affects the area of the brain For other articles about other subjects named brain see brain (disambiguation). In the anatomy of animals, the

37. Joubert Syndrome,Cerebellar Vermis Agenesis-Hypernea-Episodic Eye Moves-Ataxia-R joubert syndrome,Cerebellar Vermis AgenesisHypernea-Episodic Eye Moves-Ataxia-Retardation,CerebellarVermis Aplasia,Cerebellarparenchymal Disorder IV http://www.icomm.ca/geneinfo/joubert.htm

For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Joubert Syndrome also known as: Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV Cerebelloparenchymal Disorder IV Familial Chorireninal Coloboma-Joubert Syndrome Hyperpnea, Episodic-Abnormal Eye Movement Joubert-Bolthauser Syndrome Kidneys, Cystic-Retinal Aplasia Joubert Syndrome Polydactyly-Joubert Syndrome Retinal Aplastic-Cystic Kidneys-Joubert Syndrome Vermis Aplasia Vermis Cerebellar Agenesis (as defined by the National Organization for Rare Disorders Joubert Syndrome is a very rare neurological disorder involving a malformation of the area of the brain that controls balance and coordination. Generally motor activity is slowed (psychomotor retardation) and there are abnormal eye movements. Respiratory irregularities, including rapid panting, may occur during infancy. Find more information on the Internet with Select name of the disorder Joubert Syndrome Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation

38. JOUBERT SYNDROME: Contact A Family - For Families With Disabled Children: Inform printer friendly, joubert syndrome, http://www.cafamily.org.uk/Direct/j12.html

printer friendly JOUBERT SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Joubert syndrome is a rare neurological condition characterised by developmental delay, floppiness (see entry, Hypotonia ), lack of muscle control (ataxia) and difficulty controlling horizontal eye movements (oculomotor apraxia). Other symptoms include abnormal breathing patterns (hyperpnea), kidney abnormalities and a characteristic facial appearance. Individuals with Joubert syndrome may show some or all of these features and, in addition, may be differently affected by the severity of symptoms. Joubert syndrome is caused by changes in a gene on chromosome 9. These changes affect development of certain parts of the brain including the cerebellar vermis and brain stem. The cerebellar vermis is responsible for controlling posture, co-ordinating head and eye movements and fine-tuning muscles. The brain stem is responsible for maintaining the body's involuntary functions such as heartbeat, breathing, and thermoregulation. The cerebellar vermis and brain stem are underdeveloped or absent in individuals with Joubert syndrome. Such changes may be identified on an MRI scan of the brain. Hypotonia is particularly evident in the neonatal period and during infancy. Children may be moderately or severely affected and may lack head control, have difficulties rolling over, sitting, standing and walking. Unsteadiness (ataxia) and balance problems may also be present. Joubert syndrome also affects breathing and abnormal breathing commonly occurs during the neonatal period. This may, however, improve with age. Sadly, some infants die within the first three years from breathing problems.

39. LookSmart - Directory - Joubert Syndrome joubert syndrome General information, overviews, organizations, andsupport for joubert syndrome. Directory Listings About. allRefer http://search.looksmart.com/p/browse/us1/us317837/us317920/us53948/us273036/us27

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); Home IN the directory this category YOU ARE HERE Home Personal Health Conditions A-Z ... Conditions J Joubert Syndrome - General information, overviews, organizations, and support for Joubert Syndrome. Directory Listings About allRefer Health.com - Joubert syndrome Know how brain is affected in this disorder, which leads to balance and coordination problems. Therapy, infant stimulation, and support are some of the treatment options. Joubert Syndrome Foundation Read about this international group of parents who share knowledge and support about this rare disease. Offers FAQs, a newsletter, and an info center. National Library of Medicine - Joubert Syndrome Gives an easy to follow format for this disease, some of whose features may include jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap. NINDS - Joubert Syndrome Information Page Read about the treatment, prognosis, and research being done for this rare, genetic disorder that affects the area of the brain that controls balance and coordination. UCSD - The Genetics of Joubert Syndrome University of California, San Diego laboratory describes the symptoms, prognosis, treatment, and on-going research into this genetic disorder for families and physicians.

40. Disease Directory : Genetic Disorders : Joubert Syndrome Diseases Genetic Disorders joubert syndrome. Apnoea or tachypnoea; Brain; Encyclopedia4U joubert syndrome - Encyclopedia Article - joubert syndrome. http://www.diseasedirectory.net/Genetic_Disorders/Joubert_Syndrome/default.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Joubert Syndrome CHDD Center - Joubert Syndrome REA - Research Emphasis Area on Joubert Syndrome, Coordinator: Phillip F. Chance, MD. Joubert syndrome is an autosomal recessive developmental CHDD forms new research center on Joubert syndrome and other ... - 14, #2 CHDD forms new research center on Joubert syndrome and other disorders of the cerebellum • Dandy-Walker malformation, a heterogeneous group of dis EGGER (1982) - JOUBERT SYNDROME WITH ORO-FACIO-DIGITAL ANOMALIES - Features Listed For EGGER (1982) - JOUBERT SYNDROME WITH ORO-FACIO-DIGITAL ANOMALIES. McKusick: 213300. Apnoea or tachypnoea; Brain Encyclopedia4U - Joubert syndrome - Encyclopedia Article - Joubert syndrome. Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. Future Research Directions in Joubert Syndrome - Report on a meeting on Future Research Directions in Joubert Syndrome, held June 27 - 28, 2002. Future Research Directions in Joubert Syndrome. GeneReviews: Joubert Syndrome - Your browser does not support HTML frames so you must view Joubert Syndrome in a slightly less readable form. Please follow this link to do so.

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