• Issue

    American Journal of Medical Genetics: Volume 57, Issue 2

    fmi, 125-375
    5 June 1995
Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

Masthead

Free Access

Masthead

  • Page: fmi
  • First Published: 5 June 1995

Articles

Full Access

Report on the fifth international conference on neuronal ceroid-lipofuscinoses

Vidudala V. T. S. Prasad,  Dr. Raju K. Pullarkat, 
  • Pages: 125-127
  • First Published: 5 June 1995
Full Access

Batten disease–an overview of research and funding

J. Alfred Rider Ph.D. M.D., 
  • Pages: 128-129
  • First Published: 5 June 1995
Full Access

Bibliography on ceroid-lipofuscinoses, II

Lawrence Black,  Raju K. Pullarkat, 
  • Pages: 130-136
  • First Published: 5 June 1995

I. Clinical and Pathological Studies

Full Access

Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients

Nardo Nardocci M.D.,  M. Luisa Verga,  Simona Binelli,  Giovanna Zorzi,  Lucia Angelini,  Orso Bugiani, 
  • Pages: 137-141
  • First Published: 5 June 1995
Full Access

Neuronal ceroid-lipofuscinoses in Italy: An epidemiological study

Francesco Cardona M.D.,  Elisabetta Rosati, 
  • Pages: 142-143
  • First Published: 5 June 1995
Full Access

Childhood neuronal ceroid-lipofuscinoses in Argentina

Ana Lia Taratuto M.D.,  María Saccoliti,  Gustavo Sevlever,  Victor Ruggieri,  Hugo Arroyo,  María Herrero,  Mario Massaro,  Natalio Fejerman, 
  • Pages: 144-149
  • First Published: 5 June 1995
Full Access

Classification of the neuronal ceroid-lipofuscinoses: Expansion of the atypical forms

Dr. Paul Dyken,  Krystyna Wisniewski, 
  • Pages: 150-154
  • First Published: 5 June 1995
Full Access

Pigment variant of neuronal ceroid-lipofuscinosis

Hans Hilmar Goebel M.D.,  Filippo Gullotta,  Thomas Bajanowski,  Flemming Juul Hansen,  Heiko Braak, 
  • Pages: 155-159
  • First Published: 5 June 1995
Full Access

New spielmeyer-vogt variant with granular inclusions and early brain atrophy

Michel Philippart M.D.,  Harry T. Chugani,  J. Bronwyn Bateman, 
  • Pages: 160-164
  • First Published: 5 June 1995

Brief Clinical Reports

Full Access

Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD)

Irene L. Hofman,  Peter E. M. Taschner, 
  • Pages: 165-167
  • First Published: 5 June 1995

I. Clinical and Pathological Studies

Full Access

Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease)

Cathy M. Tuck-Muller Ph.D.,  Paul R. Dyken,  Shibo Li,  Harold Chen,  Elise Labbé,  Wladimir Wertelecki, 
  • Pages: 168-171
  • First Published: 5 June 1995
Full Access

Tissue and cellular distribution of subunit c of ATP synthase in Batten disease (neuronal ceroid-lipofuscinosis)

Sarah A. Rowan,  B. D. Lake, 
  • Pages: 172-176
  • First Published: 5 June 1995
Full Access

Immunocytochemical studies in the ceroid-lipofuscinoses (Batten disease) using antibodies to subunit c of mitochondrial ATP synthase

Valerie J. Westlake,  Robert D. Jolly,  Sheryl L. Bayliss,  David N. Palmer, 
  • Pages: 177-181
  • First Published: 5 June 1995
Full Access

Topographic variabilities of immunoreactivity to subunit c of mitochondrial ATP synthase and lectin binding in late infantile neuronal ceroid-lipofuscinosis

Dr. Elzbieta Kida,  Krystyna E. Wisniewski,  Fred Connell, 
  • Pages: 182-186
  • First Published: 5 June 1995
Full Access

Significance of lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells

Hans Hilmar Goebel M.D.,  Irene Warlo,  Thomas Klockgether,  Klaus Harzer, 
  • Pages: 187-190
  • First Published: 5 June 1995
Full Access

Cellular distribution of lesions in Batten disease

Robert Chronister,  Paul Dyken M.D.,  Phillip A. Fields,  Paul Maertens, 
  • Pages: 191-195
  • First Published: 5 June 1995
Full Access

Pathogenesis of brain dysfunction in Batten disease

Dr. Steven U. Walkley,  Philip A. March,  Charles E. Schroeder,  Sarah Wurzelmann,  Robert D. Jolly, 
  • Pages: 196-203
  • First Published: 5 June 1995
Full Access

Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease

Philip A. March,  Sarah Wurzelmann,  Dr. Steven U. Walkley, 
  • Pages: 204-212
  • First Published: 5 June 1995
Full Access

Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): Testing their lysosomal degradability by normal and Batten cells

Dr. M. Elleder,  Z. Drahota,  V. Lisá,  Vl. Mareč,  V. Mandys,  J. Müller,  D. N. Palmer, 
  • Pages: 213-221
  • First Published: 5 June 1995
Full Access

Immunelectronmicroscopic characterization of T4 and T8 lymphocytes and natural killer cells in neuronal ceroid-lipofuscinosis

Bernd C. Kieseier,  Dr. Hans Hilmar Goebel, 
  • Pages: 222-224
  • First Published: 5 June 1995
Full Access

Free radicals, anticonvulsants, and the neuronal ceroid-lipofuscinoses

Paul Maertens M.D.,  Paul Dyken,  William Graf,  Charles Pippenger,  Robert Chronister,  Arvind Shah, 
  • Pages: 225-228
  • First Published: 5 June 1995
Full Access

Circadian rhythm studies in neuronal ceroid-lipofuscinosis (NCL)

Erika Heikkilä,  Taina H. Hàtònen,  Tiina Telakivi,  Maija-Liisa Laakso,  Hannu Heiskala,  Tapani Salmi,  Aino Alila,  Pirkko Santavuori, 
  • Pages: 229-234
  • First Published: 5 June 1995
Full Access

Decreasing hydraulic conductivity of Bruch's membrane: Relevance to photoreceptor survival and lipofuscinoses

Carla Starita M.B., B.S.,  Ali A. Hussain,  John Marshall, 
  • Pages: 235-237
  • First Published: 5 June 1995
Full Access

Avoid diagnostic delay of late infantile and juvenile neuronal ceroid-lipofuscinosis (LINCL, JNCL): A word to pediatricians, neurologists, and ophthalmologists

Peter Heim,  Alfried Kohlschütter M.D., 
  • Page: 238
  • First Published: 5 June 1995
Full Access

Diagnoses of neuronal ceroid-lipofuscinosis by immunochemical methods

Syed Hosain,  Walter E. Kaufmann,  Gisela Negrin,  Paul A. Watkins,  Aristotle N. Siakotos,  David N. Palmer,  SakkuBai Naidu M.D., 
  • Pages: 239-245
  • First Published: 5 June 1995
Full Access

Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses

Krystyna E. Wisniewski,  Wojciech Kaczmarski,  Adam A. Golabek,  Elzbieta Kida, 
  • Pages: 246-249
  • First Published: 5 June 1995
Full Access

Early detection of canine ceroid-lipofuscinosis (CCL): An ultrastructural study

J. Savill,  B. Azzarelli,  A. N. Siakotos, 
  • Pages: 250-253
  • First Published: 5 June 1995

II. Biochemical Studies

Full Access

Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease)

Junji Ezaki,  Leonhard S. Wolfe,  Kazumi Ishidoh,  Eiki Kominami, 
  • Pages: 254-259
  • First Published: 5 June 1995
Full Access

Batten disease and the ATP synthase subunit c turnover pathway: Raising antibodies to subunit c

D. N. Palmer,  S. L. Bayliss,  V. J. Westlake, 
  • Pages: 260-265
  • First Published: 5 June 1995
Full Access

Canine hereditary ceroid-lipofuscinosis: Evidence for a defect in the carnitine biosynthetic pathway

Martin L. Katz Ph.D.,  Aristotle N. Siakotos, 
  • Pages: 266-271
  • First Published: 5 June 1995
Full Access

Late-infantile Batten disease: Purification of the subunit c of the mitochondrial ATP synthase from storage material

Kevork Hagopian,  Brian D. Lake,  Bryan G. Winchester,  John B. Clark, 
  • Pages: 272-278
  • First Published: 5 June 1995
Full Access

Variant proteins in ovine ceroid-lipofuscinosis

Pisana Moroni-Rawson,  David N. Palmer,  Robert D. Jolly,  Dr. T. William Jordan, 
  • Pages: 279-284
  • First Published: 5 June 1995
Full Access

Abnormal acid phosphatases in neuronal ceroid-lipofuscinoses

K. M. Faisal Khan,  Susan Sklower Brooks,  Raju K. Pullarkat, 
  • Pages: 285-289
  • First Published: 5 June 1995
Full Access

Biosynthesis and metabolism of 4-hydroxynonenal in canine ceroid-lipofuscinosis

Aristotle N. Siakotos,  Kathryn Schnippel,  Renee C. Lin,  Frederick J. G. M. Van Kuijk, 
  • Pages: 290-293
  • First Published: 5 June 1995
Full Access

Sphingolipid activator proteins (SAPS) are stored together with glycosphingolipids in the infantile neuronal ceroid-lipofuscinosis (INCL)

Jaana Tyynelä,  Marc Baumann,  Margarete Henseler,  Konrad Sandhoff,  Matti Haltia, 
  • Pages: 294-297
  • First Published: 5 June 1995
Full Access

Palmitate oxidation in muscle mitochondria of patients with the juvenile form of neuronal ceroid-lipofuscinosis

Anna Majander,  Dr. Helena Pihko,  Pirkko Santavuori, 
  • Pages: 298-300
  • First Published: 5 June 1995
Full Access

Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid-lipofuscinosis (Batten disease)

Richard L. Boriack,  Elma Cortinas,  Michael J. Bennett, 
  • Pages: 301-303
  • First Published: 5 June 1995
Full Access

Erythrocyte membrane reacylation in juvenile neuronal ceroid-lipofuscinosis: Measurement of membrane-bound carnitine palmitoyl transferase, acyl-CoA synthetase, and lysophospholipid: Acyl-CoA acyltransferase activities

Dr. Michael J. Bennett,  Richard L. Boriack, 
  • Pages: 304-306
  • First Published: 5 June 1995
Full Access

Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): An overview

R. D. Jolly, 
  • Pages: 307-311
  • First Published: 5 June 1995

III. Molecular Biological Studies

Full Access

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

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,  S. E. Mole, 
  • Pages: 312-315
  • First Published: 5 June 1995
Full Access

Physical map of the region containing the gene for Batten disease (CLN3)

Irma E. Järvelä,  Hannah M. Mitchison,  David F. Callen,  Terry J. Lerner,  Norman A. Doggett,  Peter E. M. Taschner,  R. Mark Gardiner,  Sara E. Mole, 
  • Pages: 316-319
  • First Published: 5 June 1995
Full Access

Isolation of genes from the Batten candidate region using exon amplification

T. J. Lerner,  K. L. D'Arigo,  J. L. Haines,  N. A. Doggett,  P. E. M. Taschner,  N. de Vos,  A. J. Buckler, 
  • Pages: 320-323
  • First Published: 5 June 1995
Full Access

Analysis of Batten disease candidate genes STP and STM

Patricia B. Munroe,  Hannah M. Mitchison,  Thomas P. Dooley,  R. Mark Gardiner,  Sara E. Mole, 
  • Pages: 324-326
  • First Published: 5 June 1995
Full Access

Phenol sulfotransferases: Candidate genes for Batten disease

Thomas P. Dooley,  Pam Probst,  R. Dawn Obermoeller,  Michael J. Siciliano,  Norman A. Doggett,  David F. Callen,  Hannah M. Mitchison,  Sara E. Mole, 
  • Pages: 327-332
  • First Published: 5 June 1995
Full Access

Carrier detection of Batten disease (Juvenile neuronal ceroid-lipofuscinosis)

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,  Martijn H. Breuning, 
  • Pages: 333-337
  • First Published: 5 June 1995
Full Access

Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis

Dr. Peter E. M. Taschner,  Nanneke de Vos,  Coriene E. Catsman-Berrevoets,  Sjoerd G. van Duinen,  Dick Lindhout,  Martijn H. Breuning, 
  • Pages: 338-343
  • First Published: 5 June 1995
Full Access

Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL)

Dr. J. L. Haines,  R.-M. N. Boustany,  T. Worster,  M. Ter-Minassian,  P. Jondro,  T. J. Lerner, 
  • Pages: 344-347
  • First Published: 5 June 1995
Full Access

Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis

Julie Sharp,  Minna Savukoski,  Ruth B. Wheeler,  Juliette Harris,  Irma Järvelä,  Leena Peltonen,  Mark Gardiner,  Ruth Williams, 
  • Pages: 348-349
  • First Published: 5 June 1995
Full Access

Role of subunit-9 of mitochondrial ATP synthase in Batten disease

David W. Johnson,  Susanne Speier,  Wei-Hua Qian,  Steven Lane,  Alyson Cook,  Kinuko Suzuki,  Peter Daniel,  Dr. Rose-Mary Boustany, 
  • Pages: 350-360
  • First Published: 5 June 1995
Full Access

Genetics of primary and timing effects in the mnd mouse

A. Messer,  J. Plummer,  M. C. MacMillen,  W. N. Frankel, 
  • Pages: 361-364
  • First Published: 5 June 1995
Full Access

Hematopoietic cell transplantation in fetal lambs with ceroid-lipofuscinosis

Valerie J. Westlake,  Dr. Robert D. Jolly,  Boyd R. Jones,  David J. Mellor,  Roslyn Machon,  Esmail D. Zanjani,  William Krivit, 
  • Pages: 365-368
  • First Published: 5 June 1995
Full Access

Bone marrow transplantation in Batten disease (Neuronal ceroid-lipofuscinosis). Will it work? Preliminary studies on coculture experiments and on bone marrow transplant in late infantile Batten disease

Professor B. D. Lake,  D. C. Henderson,  A. Oakhill,  A. Vellodi, 
  • Pages: 369-373
  • First Published: 5 June 1995

Books Received

Full Access

Books received

  • Pages: 374-375
  • First Published: 5 June 1995