American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

5 June 1995

Volume 57, Issue 2

Pages fmi–fmi, 125–375

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. I. Clinical and Pathological Studies
    5. Brief Clinical Reports
    6. I. Clinical and Pathological Studies
    7. II. Biochemical Studies
    8. III. Molecular Biological Studies
    9. Books Received
    1. Masthead (page fmi)

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570201

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. I. Clinical and Pathological Studies
    5. Brief Clinical Reports
    6. I. Clinical and Pathological Studies
    7. II. Biochemical Studies
    8. III. Molecular Biological Studies
    9. Books Received
    1. Report on the fifth international conference on neuronal ceroid-lipofuscinoses (pages 125–127)

      Vidudala V. T. S. Prasad and Dr. Raju K. Pullarkat

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570202

    2. Batten disease–an overview of research and funding (pages 128–129)

      J. Alfred Rider

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570203

    3. Bibliography on ceroid-lipofuscinoses, II (pages 130–136)

      Lawrence Black and Raju K. Pullarkat

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570204

  3. I. Clinical and Pathological Studies

    1. Top of page
    2. Masthead
    3. Articles
    4. I. Clinical and Pathological Studies
    5. Brief Clinical Reports
    6. I. Clinical and Pathological Studies
    7. II. Biochemical Studies
    8. III. Molecular Biological Studies
    9. Books Received
    1. Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients (pages 137–141)

      Nardo Nardocci, M. Luisa Verga, Simona Binelli, Giovanna Zorzi, Lucia Angelini and Orso Bugiani

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570205

    2. Neuronal ceroid-lipofuscinoses in Italy: An epidemiological study (pages 142–143)

      Francesco Cardona and Elisabetta Rosati

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570206

    3. Childhood neuronal ceroid-lipofuscinoses in Argentina (pages 144–149)

      Ana Lia Taratuto, María Saccoliti, Gustavo Sevlever, Victor Ruggieri, Hugo Arroyo, María Herrero, Mario Massaro and Natalio Fejerman

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570207

    4. Classification of the neuronal ceroid-lipofuscinoses: Expansion of the atypical forms (pages 150–154)

      Dr. Paul Dyken and Krystyna Wisniewski

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570208

    5. Pigment variant of neuronal ceroid-lipofuscinosis (pages 155–159)

      Hans Hilmar Goebel, Filippo Gullotta, Thomas Bajanowski, Flemming Juul Hansen and Heiko Braak

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570209

    6. New spielmeyer-vogt variant with granular inclusions and early brain atrophy (pages 160–164)

      Michel Philippart, Harry T. Chugani and J. Bronwyn Bateman

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570210

  4. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. I. Clinical and Pathological Studies
    5. Brief Clinical Reports
    6. I. Clinical and Pathological Studies
    7. II. Biochemical Studies
    8. III. Molecular Biological Studies
    9. Books Received
    1. Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD) (pages 165–167)

      Irene L. Hofman and Peter E. M. Taschner

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570211

  5. I. Clinical and Pathological Studies

    1. Top of page
    2. Masthead
    3. Articles
    4. I. Clinical and Pathological Studies
    5. Brief Clinical Reports
    6. I. Clinical and Pathological Studies
    7. II. Biochemical Studies
    8. III. Molecular Biological Studies
    9. Books Received
    1. Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease) (pages 168–171)

      Cathy M. Tuck-Muller, Paul R. Dyken, Shibo Li, Harold Chen, Elise Labbé and Wladimir Wertelecki

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570212

    2. Immunocytochemical studies in the ceroid-lipofuscinoses (Batten disease) using antibodies to subunit c of mitochondrial ATP synthase (pages 177–181)

      Valerie J. Westlake, Robert D. Jolly, Sheryl L. Bayliss and David N. Palmer

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570214

    3. Significance of lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells (pages 187–190)

      Hans Hilmar Goebel, Irene Warlo, Thomas Klockgether and Klaus Harzer

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570216

    4. Cellular distribution of lesions in Batten disease (pages 191–195)

      Robert Chronister, Paul Dyken, Phillip A. Fields and Paul Maertens

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570217

    5. Pathogenesis of brain dysfunction in Batten disease (pages 196–203)

      Dr. Steven U. Walkley, Philip A. March, Charles E. Schroeder, Sarah Wurzelmann and Robert D. Jolly

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570218

    6. Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease (pages 204–212)

      Philip A. March, Sarah Wurzelmann and Dr. Steven U. Walkley

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570219

    7. Free radicals, anticonvulsants, and the neuronal ceroid-lipofuscinoses (pages 225–228)

      Paul Maertens, Paul Dyken, William Graf, Charles Pippenger, Robert Chronister and Arvind Shah

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570222

    8. Circadian rhythm studies in neuronal ceroid-lipofuscinosis (NCL) (pages 229–234)

      Erika Heikkilä, Taina H. Hàtònen, Tiina Telakivi, Maija-Liisa Laakso, Hannu Heiskala, Tapani Salmi, Aino Alila and Pirkko Santavuori

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570223

    9. Diagnoses of neuronal ceroid-lipofuscinosis by immunochemical methods (pages 239–245)

      Syed Hosain, Walter E. Kaufmann, Gisela Negrin, Paul A. Watkins, Aristotle N. Siakotos, David N. Palmer and SakkuBai Naidu

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570226

    10. Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses (pages 246–249)

      Krystyna E. Wisniewski, Wojciech Kaczmarski, Adam A. Golabek and Elzbieta Kida

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570227

    11. Early detection of canine ceroid-lipofuscinosis (CCL): An ultrastructural study (pages 250–253)

      J. Savill, B. Azzarelli and A. N. Siakotos

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570228

  6. II. Biochemical Studies

    1. Top of page
    2. Masthead
    3. Articles
    4. I. Clinical and Pathological Studies
    5. Brief Clinical Reports
    6. I. Clinical and Pathological Studies
    7. II. Biochemical Studies
    8. III. Molecular Biological Studies
    9. Books Received
    1. Batten disease and the ATP synthase subunit c turnover pathway: Raising antibodies to subunit c (pages 260–265)

      D. N. Palmer, S. L. Bayliss and V. J. Westlake

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570230

    2. Late-infantile Batten disease: Purification of the subunit c of the mitochondrial ATP synthase from storage material (pages 272–278)

      Kevork Hagopian, Brian D. Lake, Bryan G. Winchester and John B. Clark

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570232

    3. Variant proteins in ovine ceroid-lipofuscinosis (pages 279–284)

      Pisana Moroni-Rawson, David N. Palmer, Robert D. Jolly and Dr. T. William Jordan

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570233

    4. Abnormal acid phosphatases in neuronal ceroid-lipofuscinoses (pages 285–289)

      K. M. Faisal Khan, Susan Sklower Brooks and Raju K. Pullarkat

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570234

    5. Biosynthesis and metabolism of 4-hydroxynonenal in canine ceroid-lipofuscinosis (pages 290–293)

      Aristotle N. Siakotos, Kathryn Schnippel, Renee C. Lin and Frederick J. G. M. Van Kuijk

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570235

    6. Sphingolipid activator proteins (SAPS) are stored together with glycosphingolipids in the infantile neuronal ceroid-lipofuscinosis (INCL) (pages 294–297)

      Jaana Tyynelä, Marc Baumann, Margarete Henseler, Konrad Sandhoff and Matti Haltia

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570236

    7. Palmitate oxidation in muscle mitochondria of patients with the juvenile form of neuronal ceroid-lipofuscinosis (pages 298–300)

      Anna Majander, Dr. Helena Pihko and Pirkko Santavuori

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570237

  7. III. Molecular Biological Studies

    1. Top of page
    2. Masthead
    3. Articles
    4. I. Clinical and Pathological Studies
    5. Brief Clinical Reports
    6. I. Clinical and Pathological Studies
    7. II. Biochemical Studies
    8. III. Molecular Biological Studies
    9. Books Received
    1. Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits (pages 312–315)

      Dr. H. M. Mitchison, A. M. O'Rawe, T. J. Lerner, P. E. M. Taschner, K. Schlumpf, K. D'Arigo, N. de Vos, E. Gormally, H. A. Phillips, A. D. Thompson, J. L. Haines, Y. M. Hart, E. Andermann, D. F. Callen, M. H. Breuning, R. M. Gardiner and S. E. Mole

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570241

    2. Physical map of the region containing the gene for Batten disease (CLN3) (pages 316–319)

      Irma E. Järvelä, Hannah M. Mitchison, David F. Callen, Terry J. Lerner, Norman A. Doggett, Peter E. M. Taschner, R. Mark Gardiner and Sara E. Mole

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570242

    3. Isolation of genes from the Batten candidate region using exon amplification (pages 320–323)

      T. J. Lerner, K. L. D'Arigo, J. L. Haines, N. A. Doggett, P. E. M. Taschner, N. de Vos and A. J. Buckler

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570243

    4. Analysis of Batten disease candidate genes STP and STM (pages 324–326)

      Patricia B. Munroe, Hannah M. Mitchison, Thomas P. Dooley, R. Mark Gardiner and Sara E. Mole

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570244

    5. Phenol sulfotransferases: Candidate genes for Batten disease (pages 327–332)

      Thomas P. Dooley, Pam Probst, R. Dawn Obermoeller, Michael J. Siciliano, Norman A. Doggett, David F. Callen, Hannah M. Mitchison and Sara E. Mole

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570245

    6. Carrier detection of Batten disease (Juvenile neuronal ceroid-lipofuscinosis) (pages 333–337)

      Peter E. M. Taschner, Nanneke de Vos, Jan G. Post, E. Johanna Meijers-Heijboer, Irene Hofman, M. Christa B. Loonen, Alfred J. L. G. Pinckers, Elisabeth M. Bleeker-Wagemakers, R. Mark Gardiner and Martijn H. Breuning

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570246

    7. Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis (pages 338–343)

      Dr. Peter E. M. Taschner, Nanneke de Vos, Coriene E. Catsman-Berrevoets, Sjoerd G. van Duinen, Dick Lindhout and Martijn H. Breuning

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570247

    8. Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL) (pages 344–347)

      Dr. J. L. Haines, R.-M. N. Boustany, T. Worster, M. Ter-Minassian, P. Jondro and T. J. Lerner

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570248

    9. Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis (pages 348–349)

      Julie Sharp, Minna Savukoski, Ruth B. Wheeler, Juliette Harris, Irma Järvelä, Leena Peltonen, Mark Gardiner and Ruth Williams

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570249

    10. Role of subunit-9 of mitochondrial ATP synthase in Batten disease (pages 350–360)

      David W. Johnson, Susanne Speier, Wei-Hua Qian, Steven Lane, Alyson Cook, Kinuko Suzuki, Peter Daniel and Dr. Rose-Mary Boustany

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570250

    11. Genetics of primary and timing effects in the mnd mouse (pages 361–364)

      A. Messer, J. Plummer, M. C. MacMillen and W. N. Frankel

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570251

    12. Hematopoietic cell transplantation in fetal lambs with ceroid-lipofuscinosis (pages 365–368)

      Valerie J. Westlake, Dr. Robert D. Jolly, Boyd R. Jones, David J. Mellor, Roslyn Machon, Esmail D. Zanjani and William Krivit

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570252

  8. Books Received

    1. Top of page
    2. Masthead
    3. Articles
    4. I. Clinical and Pathological Studies
    5. Brief Clinical Reports
    6. I. Clinical and Pathological Studies
    7. II. Biochemical Studies
    8. III. Molecular Biological Studies
    9. Books Received
    1. Books received (pages 374–375)

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570254

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