81. [Usyd-research-announce] Weekly Research Email Bulletin for hallervordenspatz syndrome for Mastocytosis Ophthalmic Research with Adenoid Cystic Carcinoma, hallervorden-spatz syndrome or Mastocytosis. http://mailman.ucc.usyd.edu.au/pipermail/usyd-research-announce/2002-April/00019

[Usyd-research-announce] Weekly Research Email Bulletin Research Grants research at reschols.usyd.edu.au Mon Apr 15 10:01:38 EST 2002 Previous message: [Usyd-research-announce] Weekly Research Email Bulletin Next message: [Usyd-research-announce] ATTENTION all University of Sydney researchers intending to apply for ARC Linkage Project Grants 2002 for 2003. Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] THE UNIVERSITY OF SYDNEY RESEARCH OFFICE WEEKLY EMAIL BULLETIN Previously advertised grants can be found on our web site: http://www.usyd.edu.au/su/reschols/research/ If you have any comments or questions concerning this Bulletin, please email the Research Office research at reschols.usyd.edu.au http://www.arts.nsw.gov.au/Guidelines/Grants/grants.htm AUSTRALIAN INSTITUTE OF CRIMINOLOGY AUSTRALIAN CRIME AND VIOLENCE PREVENTION AWARDS FOR 2002 The awards are designed to reward best practice in the prevention or reduction of violence and other types of crime in Australia, to encourage public initiatives and to assist governments in identifying and developing practical projects which will reduce violence and other types of crime in the community. Projects may address specific groups or specific problems. The project may be of any size; small projects involving local community groups are encouraged to apply. Anyone can nominate a project for the award, whether or not they are connected to the project. The monetary awards total $130,000. For further information visit the AIC website at

82. News Roundup: New And Noteworthy Information are associated with all classic cases of hallervordenspatz syndrome and one 123 patients diagnosed with hallervorden-spatz syndrome on the basis of http://www.neurologyreviews.com/feb03/newsroundup.html

Search: Sort by: Date Rank Home Address Change Archives Return to table of contents N EWS R OUNDUP: N EW AND N OTEWORTHY I NFORMATION A clot-busting substance derived from vampire bat saliva may be used up to three times longer than the current stroke treatment window without increasing the risk for additional brain damage, according to a report in the January 9 rapid access issue of Stroke . The enzyme, Desmodus rotundus salivary plasminogen activator (DSPA), is more potent than the current US Food and Drug Administration-approved clot buster, recombinant tissue plasminogen activator (t-PA). When exposed to fibrin, the clot-busting activity of DSPA increases about 13,000-fold, compared with rt-PA, whose activity increases only 72-fold. In addition, researchers discovered that DSPA had no effect on two brain receptors that can promote brain damage, making it a safe treatment option for a longer period. I nadequate rates of awareness and control of risk factors remain prevalent among African-American stroke patients, reported a study in the January 14 Neurology S ecular trends in cerebral infarct and coronary heart disease suggest a common etiology, but the different trends in cerebral hemorrhage show that its cause differs significantly from these conditions, researchers stated in the December 7, 2002

83. ASENT | NeuroRx Newsletter - Role Of Iron In Neurodegeneration hallervordenspatz syndrome Gene Defect Identified hallervorden-spatz syndrome (HSS)is a progressive, autosomal neurodegenerative disorder of childhood http://www.asent.org/newsletter/2001/september/

Volume 1, Issue 4 September 2001 What's Inside Role of Iron in Neurodegeneration A Vaccine for Prion Disease? and Related Articles Industry News News from Other Countries ... Employment Opportunities The Role of Iron in Neurodegeneration Excessive iron accumulation has been reported in the brains of patients with Parkinson’s or Alzheimer’s disease, and it has been postulated that abnormal iron accumulation in the brain is neurotoxic through the generation of free radicals. However, it remains unclear whether iron-induced oxidative stress is a primary or a secondary event in the process that leads to neuronal death. Two recent reports suggest that - at least in some cases - iron toxicity may be a primary event in neurodegeneration. Neuroferritinopathy Causative Gene Identified In recent years, Curtis et al have described a previously unrecognized adult-onset neurodegenerative disease that affects the basal ganglia and is associated with iron accumulation. The disease is dominantly inherited and presents with extrapyramidal symptoms and low ferritin serum levels. Histopathology is characterized by lesions in the globus pallidus with abundant spherical inclusions containing aggregates of ferritin and iron. Additionally, axonal swellings are found throughout the brain and are immunoreactive for ubiqutin and tau. Within the brain, only the basal ganglia appear to be affected. Outside the brain, organs such as the pancreas, liver, and heart that are typically affected in iron accumulation disease, appear to function normally.

84. Revista Brasileira De Psiquiatria - Homozygosity mapping of hallervordenspatz syndrome 20p12.3-p13. Nat Genet.1996;14(4)479- 81. 40. Zhou B, Westaway SK, Levinson B, Johnson MA, http://www.scielo.br/scielo.php?pid=S1516-44462005000100006&script=sci_arttext&t

85. The Eye-of-the-Tiger Sign -- Guillerman 217 (3): 895 -- Radiology The term hallervordenspatz syndrome encompasses several disorders, each of which Prior to MR imaging, the diagnosis of hallervorden-spatz syndrome was http://radiology.rsnajnls.org/cgi/content/full/217/3/895

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text (PDF) Submit a response ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Guillerman, R. P. Radiology. RSNA Signs in Imaging The Eye-of-the-Tiger Sign R. Paul Guillerman, MD Address correspondence to the author (e-mail: guilr0@chmcc.org Index terms: APPEARANCE TOP APPEARANCE EXPLANATION DISCUSSION REFERENCES On T2-weighted magnetic resonance (MR) images, marked low signal intensity circumscribes the globus pallidus. This low signal intensity surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance ( Figure ). The central region of high signal intensity may be better appreciated with certain pulse sequences ( View larger version [in this window] [in a new window] Figure 1.

86. CUADERNOS DE NEUROLOGIA Translate this page Swaiman K. hallervorden-spatz syndrome and Brain Iron Metabolism. Arch. Neurol . Homozygosity Mapping of hallervorden-spatz syndrome Nat. http://escuela.med.puc.cl/publ/Cuadernos/2000/pub_21_2000.html

HALLERVORDEN- SPATZ Drs. Paola Amaro y Jaime Court. Escuela de Medicina. h ipoprebetalipoproteinemia, a cantocitosis, r p alidal) y es otra variante de HS (5, 6, 7). REFERENCIAS. Brouwer OF, Laboyrie PM, Peters AC, Vielvoye GJ: Follow-up magnetic resonance imaging in Hallervorden- Spatz Disease. Clin. Neurol. Neurosurg 94 (suppl, s) 57-60, 1992. Dooling E., Schoene W., Richardson E. : Hallervorden-Spatz Syndrome. Arch. Neurol. 30:70-83, 1974. Eidelberg D., Sotrel A., Joachim C.,Selkoe D. y cols. : Adult onset Hallervorden-Spatz Disease with Neurofibrillary Pathology; Brain 110: 993-1013, 1987. Halliday W.: The Nosology of Hallervorden-Spatz Disease. Journal of the Neurological Sciences 134 (suppl.): 84-91, 1995. Malandrini A., Cesaretti S., Mulinari M., Palmeri S., y cols : Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Journal of the Neurological Sciences, 129-131, 1996. Orrell R.W., Amrolia PJ, Heald A, Cleland PG y cols.: Acanthocytosis, Retinitis pigmentosa, and pallidal degeneration. Neurology 45: 487-492, 1995. Ostergaard J, Christensen T., Norgaard K.: In vivo Diagnosis of Hallervorden-Spatz Disease, Developmental Medicine and Child Neurology 37: 827-833, 1994.

87. Maladie De Hallervorden-Spatz : Sites Et Documents Francophones Translate this page Arborescence(s) du thesaurus MeSH contenant le mot-clé maladie deHallervorden-Spatz hallervorden-spatz syndrome http://www.chu-rouen.fr/ssf/pathol/hallervordenspatzmaladie.html

Maladie de Hallervorden-Spatz Synonyme(s) CISMeF Dystrophie neuroaxonale tardive ; Hallervorden-Spatz ; Pantothénate kinase, neurodégénérescence associée à la ; hallervorden-Spatz, maladie . Synonyme(s) MeSH Dégénérescence du globus pallidus de Hallervorden Spatz Arborescence(s) maladie de Hallervorden-Spatz hallervorden-spatz syndrome maladies du système nerveux maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : guide ressources Hallervorden-Spatz, maladie de - synonyme : dystrophie neuroaxonale [Par Pr Harpey JP (Hôpital Pitié-Salpétrière de Paris, Pédiatrie-Génétique Médicale). Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2003 ; visité le : 19/08/2003].

88. ²Ä¤Q¥|¨÷²Ä¤T´ÁVolume 14Number 3 Magnetic Resonance Imaging of hallervordenspatz syndromeA Case Report hallervorden-spatz syndrome (HSD) is a rare neurodegenerative disorder http://www.tzuchi.com.tw/tcmj/92-2/8.htm

¤¤µØ¥Á°ê92¦~4¤ë ²Ä¤Q¤­¨÷ ²Ä¤G´Á April 2003 Volume 15 Number 2 Hallervorden-Spatz¯g­Ô¸sºÏ®¶³y¼v¡X¯f¨Ò³ø§i Ĭ«³»¨ ©P²Ð»«1 §õ¶W¸s1 ÄYÄ_³Ó1 ºK­n öÁä»y¡GHallervorden-Spatz ¯g­Ô¸s¡AºÏ®¶³y¼v¡A¸£³¡ ¦¬¤å¤é´Á¡G91¦~9¤ë6¤é¡A­×§ï¤é´Á¡G91¦~9¤ë23¤é¡A±µ¨ü¤é´Á¡G91¦~10¤ë2¤é Magnetic Resonance Imaging of Hallervorden-Spatz SyndromeA Case Report I-Hao Su, Andy Shau-Bin Chou1, Chau-Chin Lee1, Pao-Sheng Yen1 Department of Diagnostic Radiology, Chang Gung Memorial Hospital, Taipei, Taiwan; Department of Radiology1, Buddhist Tzu Chi General Hospital, Hualien, Taiwan ABSTRACT A 48-year-old man had suffered from progressive involuntary movement of bilateral arms since the age of 24 years. Clinical examination revealed acanthocytosis and optic nerve atrophy. Cranial magnetic resonance imaging (MRI) demonstrated abnormal hypointensity in the globus pallidus with central zones of hyperintensity on T2-weighted and Proton-weighted images, producing the "eye of the tiger" sign. Based on the clinical features and MRI findings, Hallervorden-Spatz syndrome was diagnosed. (Tzu Chi Med J 2003; 15:131-134) Key words: Hallervorden-Spatz syndrome, magnetic resonance image, brain degeneration

89. Karak Syndrome: A Novel Degenerative Disorder Of The Basal Ganglia And Cerebellu Clinical and MRI study of the hallervordenspatz syndrome long-term Homozygosity mapping of hallervorden-spatz syndrome to chromosome 20p12.3-p13. http://jmg.bmjjournals.com/cgi/content/full/40/7/543

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Mubaidin, A Articles by Woods, C G Related Collections Genetics Journal of Medical Genetics BMJ Publishing Group LETTER TO JMG Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum A Mubaidin E Roberts D Hampshire M Dehyyat A Shurbaji M Mubaidien A Jamil A Al-Din A Kurdi and C G Woods Neurology Department, King Hussein Medical Centre, PO Box 926442, Amman, Jordan 2 Ophthalmology Department, King Hussein Medical Centre, Amman, Jordan Radiology Department, King Hussein Medical Centre, Amman, Jordan Department of Neurology, Pinderfields Hospital, Wakefield, UK

90. Pantothenatkinas-associerad Neurodegeneration - Små Och Mindre Kända Handikapp Homozygosity mapping of hallervordenspatz syndrome to chromosome 20p12.3-p13.Nature Genetics 1996; 14 479-481. Zhou B, Westaway SK, Levinson B, http://www.sos.se/smkh/2001-29-139/2001-29-139.HTM

Socialstyrelsen 106 30 Stockholm Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Pantothenatkinas-associerad neurodegeneration Hallervorden-Spatz sjukdom PANK PKAN Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2004-01-12 HTML-version: 2.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik Extra näringstillförsel kan behövas redan tidigt i sjukdomsförloppet. Så småningom kan det bli nödvändigt att ge all näring eller näringstillskott direkt till magsäcken via PEG (perkutan endoskopisk gastrostomi, s k "knapp"). En PEG är en operativt åstadkommen direktförbindelse mellan bukväggen och magsäcken. Praktiska tips Resurspersoner Kurser, erfarenhetsutbyte, rekreation

91. EP Magazine Issues - August 2001 - Healthcare A mother s quest to help her daughter with Hallervorden Spatz syndrome led herto found hallervordenspatz syndrome An overview by Dr. Susan Hayflick http://www.eparent.com/magazine/aug01_magazine.htm

RESOURCES EDUCATION HEALTHCARE LIFE PLANNING ... TOYS Eparent Services: Reader Feedback EP Bookstore Archived Articles Publisher's Message ... Children's Page Search Eparent: Table of Contents: Healthcare August 2001 Who CARES? Special Section on the Direct Support Profession EP takes an in-depth look at issues faced by DSPs—the critical link in care for people with special needs. 12 The Crisis in the Direct Support Professional Workforce Finding, Keeping, and Training DSPs by Amy Hewitt, PhD ANCOR—The American Network of Community Options and Resources Some Solutions to the DSP Dilemma The Plight of Direct Support Professionals WORKFORCE ISSUES 26 It's 1 am, Do You Know Where the Third Shift Is? by Ruth Toon 28 You Get What You Pay For—The Underfunded Mandate for DSPs by John Rose Sidebar: The Future of Quality Service 33 Breaking the Myth of Sisyphus by Susan O'Nell A parent's guide to understanding the DSP crisis. 38 Thoughts on Being a Professional Caregiver by Patti Wade 40 Are You Gonna Be Here Tomorrow? by David C. Pfriem

92. Krankheitsbild Translate this page auf der dortigen Website zu findenden Text ?What is hallervorden-spatz-syndrome? Das hallervorden-spatz-Syndrom wurde zum ersten Mal 1922 von dem http://www.hoffnungsbaum.de/text5krankheitsbild.html

Letztes Update: 23.02.2003 Mit freundlicher Genehmigung von Patricia Wood, Gründerin und Vorsitzende der NBIA Disorders Association haben wir u.a. den auf der dortigen Website zu findenden Text „What is Hallervorden-Spatz-Syndrome?“ ins Deutsche übersetzt. Sie können die gesamte Übersetzung unter "Infos der NBIA Disorders Association" auf unserer website oder unter www.nbiadisorders.org Name Eisen im Gehirn Ursachen ... Symptome Name: NBIA oder Hallervorden-Spatz-Syndrom? N eurodegeneration with B rain I ron A Diagnostik Eisen im Gehirn: Was ist NBIA (HSS)? Ursachen: Die Gene und der Stoffwechsel Exkurs: Genetik Verlauf: Die Forschergruppe um Frau Dr. Hayflick von der OHSU teilt die NBIA-Patienten aufgrund neuester Untersuchungen an 123 Patienten, bei denen bedeutsame Beziehungen zwischen der Art der Mutationen im PANK 2-Gen, den radiologischen Befunden (MRT) und dem klinischen Verlauf beobachtet wurden, in drei Gruppen ein: 3. Die atypische Erkrankung ohne Mutationen auf dem Gen PANK 2 (NBIA ohne PKAN) Symptome: Dystonie Spastik Rigor Unter Choreoathetose Dysarthrie (Dysphagie) Demenz Dagegen leiden zwei Drittel der PKAN-Patienten unter einer Degeneration der Netzhaut, der sog.

93. Radiological Quiz - Neuroradiology Hallervorden Spatz Disease The axial T2 and coronal PD images through basalganglia Similar MR findings are described in HARP syndrome-acronym for http://www.ijri.org/20011104/radquiz03.htm

Radiological Quiz – Neuroradiology BK Parameswaran, AK Gupta, S Joseph, TR Kapilamoorthy, B Thomas Ind J Radiol Imag 2001 11:4:213-214 A nineteen-year-old boy presented with dystonia, slowly progressing since the age of 5 years. On examination, the patient was depressed and had dystonia and tremors. He had no cranial nerve palsies and his fundi were normal. Hematological examination was normal with no acanthocytosis. MRI was performed (Figs 1, 2). Fig. 1 Fig. 2 Radiological Diagnosis Hallervorden - Spatz Disease The axial T2 and coronal PD images through basal ganglia show marked hypo intensity of globus pallidus with hyperintense area within. This appearance is referred to as “eye of tiger sign” and is diagnostic of Hallervorden Spatz Disease (HSD). HSD is a rare neurological disorder, characterized by dystonia, rigidity, retinal degeneration, pyramidal signs and mental deterioration. Criteria for diagnosis of HSD are: 1. Onset at young age with slow progression of the illness over an average age of 15 years.

94. Article : Hallervorden Spatz Disease : A Case Report ; Author : Dr. R KUMARI ; C Hallervorden Spatz syndrome. Arch Neurol 1974; 30 7083. Sethi KD, Adams RJ,Locing DW et al. Follow up MR studies in HS disease. http://www.ijri.org/articles/ARCHIVES/2004-14-2/neuroradiology139.htm

Neuroradiology Hallervorden Spatz Disease : A Case Report ARI, RR KUM GUPTA, V CHOWDHURY Abstract Hallervorden Spatz disease is an uncommon degenerative disorder affecting neurons of the globus pallidus and presenting as progressive motor dysfunction. We present a case of HS disease evaluated on a 1.5 Tesla MR scanner. Ind J Radiol Imag 2004 14:2:139-140 Key words: Hallervorden Spatz Disease, MRI, Basel Ganglia Case Report An eight year old boy presented with progressive gait impairment, slowing of voluntary movements and gradual diminution of vision. On clinical examination, there was generalised increase in tone in all four limbs and mild hyperreflexia. The patient was sent for an MR examination. MR imaging was performed on a 1.5 Tesla MR scanner (Sonata, Siemens, Erlangen). The study revealed prominent T2 shortening in the region of globus pallidus extending inferiorly into the midbrain. Smaller zones of hyperintense signal on long TR images were seen within the area of T2 shortening. DISCUSSION Hallervorden Spatz disease is a metabolic disorder characterized clinically by gait impairment, limb rigidity, dystonic posturing, choreoathetosis, dysarthria, optic nerve atrophy and mental deterioration. Most patients are recognised in the second or third decade of life [1]. Both inherited (autosomal recessive) and sporadic cases are encountered. The disease was first reported by Hallervorden Spatz in 1924 in a 24 year old female who died from this neurologic disorder.

95. Hallervorden Spatz Syndrome (HSS) In Two Families From Southern Italy: A Clinica Hallervorden Spatz syndrome (HSS) is an autosomal recessive disorder characterizedby dystonia, parkinsonism, and iron accumulation in the brain. http://sigu.univr.it/sigu/congresso_2003/abstract/node112.html

INDICE COMUNICAZIONI INDICE AUTORI PROGRAMMA del CONGRESSO PAGINA DI ENTRATA ... HOME PAGE SIGU Next: Association study of NACP-REP1 polymorphism and Parkinson's disease Prev: Three novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus Argomento: NEUROGENETICA (349 [P1] - POSTER) Hallervorden Spatz Syndrome (HSS) in two families from southern Italy: a clinical and genetic study (1). F. Annesi (1). D. Civitelli (1). P. Tarantino (1). P. Spadafora (1). S. Carrideo (1). E.V. De Marco (1). F. Naso (2). A. Quattrone (1, 3). G. Annesi (1). 1. Institute of Neurological Sciences, National Research Council, Mangone, Italy 2. Azienda Ospedaliera, Vibo Valentia, Italy 3. Institute of Neurology, University of Magna Graecia, Catanzaro, Italy Background and Objective. Hallervorden Spatz syndrome (HSS) is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with HSS have mutations in the gene encoding pantothenate kinase2 (PANK2) located in chromosome 20p13. The aim of the current study was to investigate patients with HSS for mutations in the PANK2 gene. Material and Methods. Patients with HSS were classified as having the classic disease (characterized by early onset with rapid progression) or atypical HSS (later onset with slow progression). Primers were designed to amplify each of the seven exons of PANK2. Polymerase-chain-reaction-amplified DNA was sequenced in both the forward and the reverse directions and compared with control DNA.

96. Hallervorden Spatz Disease: MR And Pathological Findings Of A Rare Case Sharma M Hallervorden spatz syndrome Clinical and magnetic resonance imaging correlationsAnn Neurol 1988;246924. Back to cited text no. 7 http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2005;volume=53;iss

97. Faculty Page Cilio MR, Bertini E, Hayflick SJ (1996). Homozygosity mapping of HallervordenSpatzsyndrome to chromosome 20p12.3-p13. Nat GenetDec;14(4)479-81. http://www.ohsu.edu/genetics/hayflick/bibliography.html

Bibliography Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KHL, Gitschier J (2003). Genetic, clinical and radiographic delineation of Hallervorden Spatz syndrome. N Engl J Med Ching KHL, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ (2002). HARP syndrome is allelic with pantothenate kinase associated neurodegeneration. Neurology Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ (2001). A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet Hayflick SJ, Penzien JM, Michl W, Sharif UM, Rosman NP, Wheeler PG (2001). Brain MRI changes may precede symptoms in Hallervorden-Spatz syndrome. Ped Neur Zhou B, Bae S, Malone A, Levinson B, Kuo YM, Cilio MR, Bertini E, Hayflick SJ, Gitschier J (2001). GFRa-5: a new member of the GDNF receptor family and a candidate for Hallervorden Spatz syndrome. Ped Neur Hayflick SJ (2001). First scientific workshop on Hallervorden-Spatz syndrome: executive summary. Ped Neur Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaitre G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G (2000). Mutations in GJB6 cause hidrotic ectodermal dysplasia.

98. OMIM - PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=234200

99. Title http://www.biosci.tsinghua.edu.cn:8001/faculty/zhoub.html

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