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1

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

Stephan Kemp, Aurora Pujol, Hans R. Waterham, Björn M. van Geel, Corinne D. Boehm, Gerald V. Raymond, Garry R. Cutting, Ronald J.A. Wanders, Hugo W. Moser

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 384 KB

english, 2001

2

Biochemical Characterization of Myelin Isolated from the Central Nervous System of Xenopus Tadpoles

Bruce D. Trapp, Laurence J. McIntyre, Richard H. Quarles, Genïchro Nonaka, Ann Moser, Hugo W. Maser, Henry de F. Webster

Journal:

Journal of Neurochemistry

Année:

1980

Langue:

english

Fichier:

PDF, 615 KB

english, 1980

3

Plasma exchange removes glycosphingolipid in Fabry disease

Reed E. Pyeritz, M. David Ullman, Ann B. Moser, Hayden G. Braine, Hugo W. Moser, John M. Optiz

Journal:

American Journal of Medical Genetics Part A

Année:

1980

Langue:

english

Fichier:

PDF, 393 KB

english, 1980

4

Rett syndrome - natural history in 70 cases

Sakkubai Naidu, Mary Murphy, Hugo W. Moser, Andreas Rett, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 572 KB

english, 1986

5

Visual system abnormalities in adrenomyeloneuropathy

Dr Peter W. Kaplan, Bernd Kruse, Ronald J. Tusa, Jan Shankroff, Joellen Rignani, Hugo W. Moser

Journal:

Annals of Neurology

Année:

1995

Langue:

english

Fichier:

PDF, 273 KB

english, 1995

6

Cognitive and brain magnetic resonance imaging findings in adrenomyeloneuropathy

Dr David Edwin, Lynn J. Speedie, Wolfgang Kohler, Sakkubai Naidu, Hugo W. Moser, Bernd Kruse

Journal:

Annals of Neurology

Année:

1996

Langue:

english

Fichier:

PDF, 377 KB

english, 1996

7

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Nancy Braverman, Li Chen, Paul Lin, Cassandra Obie, Gary Steel, Pamela Douglas, Pranesh K. Chakraborty, Joe T.R. Clarke, Avihu Boneh, Ann Moser, Hugo Moser, David Valle

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 473 KB

english, 2002

8

Mutational analysis of patients with X-linked adrenoleukodystrophy

Fernando Kok, Sylvia Neumann, Claude-Olivier Sarde, Siqun Zheng, Kuei-Hua Wu, He-Ming Wei, James Bergin, Paul A. Watkins, Stephen Gould, George Sack, Hugo Moser, Jean-Louis Mandel, Kirby D. Smith

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 1.12 MB

english, 1995

9

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

Mosser, Jean, Douar, Anne-Marie, Sarde, Claude-Olivier, Kioschis, Petra, Feil, Robert, Moser, Hugo, Poustka, Anne-Marie, Mandel, Jean-Louis, Aubourg, Patrick

Journal:

Année:

1993

Fichier:

PDF, 675 KB

1993

10

cDNA Cloning of the Human Peroxisomal Enoyl-CoA Hydratase: 3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Enzyme and Localization to Chromosome 3q26.3-3q28: A Free Left Alu Arm Is Inserted in the 3′ Noncoding Region

Gerald Hoefler, Michael Forstner, Martina C. McGuinness, Wolfgang Hulla, Michaela Hiden, Peter Krisper, Lukas Kenner, Thomas Ried, Christoph Lengauer, Rudolf Zechner, Hugo W. Moser, Grace L. Chen

Journal:

Année:

1994

Fichier:

PDF, 541 KB

1994

11

Fetal cerebrohepatorenal (Zellweger) syndrome: Dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses

James M. Powers, Hugo W. Moser, Ann B. Moser, Jane K. Upshur, Barbara F. Bradford, Shashidhar G. Pai, Peter H. Kohn, Jaime Frias, Carol Tiffany

Journal:

Human Pathology

Année:

1985

Langue:

english

Fichier:

PDF, 7.83 MB

english, 1985

12

Rett syndrome: New observations

Naidu, Sakkubai, Chatterjee, Subroto, Murphy, Mary, Uematsu, Sumio, Phillapart, Michel, Moser, Hugo

Journal:

Brain and Development

Année:

1987

Langue:

english

Fichier:

PDF, 1.72 MB

english, 1987

13

Adrenal and Testicular Function in 14 Patients with Adrenoleukodystrophy or Adrenomyeloneuropathy

Libber, Samuel.M., Migeon, Claude J., Brown III, Frank R., Moser, Hugo W.

Journal:

Hormone Research

Année:

1986

Fichier:

PDF, 1.04 MB

1986

14

The Dorsal Root Ganglia in Adrenomyeloneuropathy: Neuronal Atrophy and Abnormal Mitochondria

Powers, James M., Deciero, David P., Cox, Christopher, Richfield, Eric K., Ito, Masumi, Moser, Ann B., Moser, Hugo W.

Journal:

Journal of Neuropathology and Experimental Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 360 KB

english, 2001

15

Festschrift für Jost Trier zu seinem 60. Geburtstag am 15. Dezember 1954by Benno von Wiese; Karl Heinz Borck

Review by: Hugo Moser

Journal:

Zeitschrift für deutsches Altertum und deutsche Literatur

Année:

1960

Langue:

german

Fichier:

PDF, 834 KB

german, 1960

16

Clinical and Therapeutic Aspects of Adrenoleukodystrophy and Adrenomyeloneuropathy

Journal:

Journal of Neuropathology and Experimental Neurology

Année:

1995

Fichier:

PDF, 318 KB

1995

17

SPIE Proceedings [SPIE SPIE Photonics Europe - Brussels, Belgium (Monday 16 April 2012)] Micro-Optics 2012 - Single-shot-capable fast multichannel Fourier transform interferometer based on a microfabricated 3D multimirror array

Thienpont, Hugo, Moser, H. O., Heussler, S. P., Mohr, Jürgen, Zappe, Hans, Kalaiselvi, S. M. P., Nakajima, Hirochika

Année:

2012

Langue:

english

Fichier:

PDF, 2.38 MB

english, 2012

18

Clinical Aspects of Adrenoleukodystrophy and Adrenomyeloneuropathy

Moser, Hugo W., Moser, Ann B., Naidu, Sakkubai, Bergin, Ann

Journal:

Developmental Neuroscience

Année:

1991

Fichier:

PDF, 1.14 MB

1991

19

Reducing Working Hours as a Means to Foster Low(er)-Carbon Lifestyles? An Exploratory Study on Swiss Employees

Hanbury, Hugo, Bader, Christoph, Moser, Stephanie

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 656 KB

english, 2019

20

Urinary bile acids and peroxisomal bifunctional enzyme deficiency

Natowicz, Marvin R., Evans, James E., Kelley, Richard I., Moser, Ann B., Watkins, Paul A., Moser, Hugo W.

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 735 KB

1996

21

Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes

Bezman, Lena, Moser, Hugo W.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 127 KB

english, 1998

22

The prenatal diagnosis of X-linked adrenoleukodystrophy

Ann B. Moser, Hugo W. Moser

Journal:

Prenatal Diagnosis

Année:

1999

Langue:

english

Fichier:

PDF, 129 KB

english, 1999

23

Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

Karen M. Brookhyser, Mark H. Lipson, Ann B. Moser, Hugo W. Moser, Ralph S. Lachman, David L. Rimoin

Journal:

Prenatal Diagnosis

Année:

1999

Langue:

english

Fichier:

PDF, 107 KB

english, 1999

24

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

Zhongyi Zhang, Yasuyuki Suzuki, Nobuyuki Shimozawa, Seiji Fukuda, Atsushi Imamura, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Tadao Orii, Ronald J.A. Wanders, Peter G. Barth, Hugo W. Moser, Barba

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 425 KB

english, 1999

25

Peroxisomal disorders

Journal:

Development Diabilities Research Reviews

Année:

1996

Langue:

english

Fichier:

PDF, 1.63 MB

english, 1996

26

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls

Ann B. Moser, Nancy Kreiter, Lena Bezman, Shou-En Lu, Gerald V. Raymond, Sakkubai Naidu, Hugo W. Moser

Journal:

Annals of Neurology

Année:

1999

Langue:

english

Fichier:

PDF, 382 KB

english, 1999

27

Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy

Björn M. van Geel, Lena Bezman, Daniel J. Loes, Hugo W. Moser, Gerald V. Raymond

Journal:

Annals of Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2001

28

Administration of iduronate sulfatase by plasma exchange to patients with the hunter syndrome: A clinical study

Dr. Frank R. Brown III, Clara W. Hall, Elizabeth F. Neufeld, Louis L. Munoz, Hayden Braine, Stanley Andrzejewski, Edwaldo E. Camargo, Shirley A. Mark, James M. Richard, Hugo W. Moser, Jürgen Herrmann

Journal:

American Journal of Medical Genetics Part A

Année:

1982

Langue:

english

Fichier:

PDF, 595 KB

english, 1982

29

Hyperpipecolic acidemia in neonatal adrenoleukodystrophy

Dr. Richard I. Kelley, Hugo W. Moser

Journal:

American Journal of Medical Genetics Part A

Année:

1984

Langue:

english

Fichier:

PDF, 321 KB

english, 1984

30

A therapeutic trial of amniotic epithelial cell implantation in patients with lysosomal storage diseases

Dr. Andrew M. Yeager, Harvey S. Singer, James R. Buck, Reuben Matalon, Susan Brennan, Susan O'Donnell O'Toole, Hugo W. Moser, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1985

Langue:

english

Fichier:

PDF, 596 KB

english, 1985

31

Neonatal adrenoleukodystrophy: New cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

Richard I. Kelley, Nabanita S. Datta, William B. Dobyns, Amiya K. Hajra, Ann B. Moser, Michael J. Noetzel, Elaine H. Zackai, Hugo W. Moser, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 2.21 MB

english, 1986

32

Preamble to the workshop on rett syndrome

Hugo W. Moser, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 967 KB

english, 1986

33

Rett syndrome - observational study of 33 families

Mary Murphy, Sakkubai Naidu, Hugo W. Moser, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 153 KB

english, 1986

34

Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in rett syndrome

James C. Harris, Dean F. Wong, Henry N. Wagner Jr., Andreas Rett, Sakkubai Naidu, R. F. Dannals, J. M. Links, Mark L. Batshaw, Hugo W. Moser, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 468 KB

english, 1986

35

Farber Disease: Pathologic diagnosis in sibs with phenotypic variability

Dr. Stephen J. Qualman, Hugo W. Moser, David Valle, Anne E. Moser, Stylianos E. Antonarakis, John K. Boitnott, William H Zinkham, John M. Opitz, Jay Bernstein

Journal:

American Journal of Medical Genetics Part A

Année:

1987

Langue:

english

Fichier:

PDF, 592 KB

english, 1987

36

Selenium treatment in neuronal ceroid-lipofuscinosis

Sakkubai Naidu, Irene Maumanee, Jean Olson, Janet Borel, Hugo Moser, John M. Opitz, James F. Reynolds, Raju K. Pullarkat

Journal:

American Journal of Medical Genetics Part A

Année:

1988

Langue:

english

Fichier:

PDF, 442 KB

english, 1988

37

Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening

Lena Bezman, Ann B. Moser, Gerald V. Raymond, Piero Rinaldo, Paul A. Watkins, Kirby D. Smith, Nancy E. Kass, Hugo W. Moser

Journal:

Annals of Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 371 KB

english, 2001

38

Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion

Eli Hershkovitz, Ginat Narkis, Zamir Shorer, Ann B. Moser, Paul A. Watkins, Hugo W. Moser, Esther Manor

Journal:

Annals of Neurology

Année:

2002

Langue:

english

Fichier:

PDF, 2.70 MB

english, 2002

39

Alexander disease: Combined gene analysis and MRI clarify pathogenesis and extend phenotype

Journal:

Annals of Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 44 KB

english, 2005

40

Diffusion tensor–based imaging reveals occult abnormalities in adrenomyeloneuropathy

Prachi Dubey, Ali Fatemi, Hao Huang, Lidia Nagae-Poetscher, Setsu Wakana, Peter B. Barker, Peter van Zijl, Hugo W. Moser, Susumu Mori, Gerald V. Raymond

Journal:

Annals of Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 783 KB

english, 2005

41

Nerve lipid abnormalities in human diabetic neuropathy: A correlative study

Dr Mark J. Brown, Masao Iwamori, Yasuo Kishimoto, Basil Rapoport, Hugo W. Moser, Arthur K. Asbury

Journal:

Annals of Neurology

Année:

1979

Langue:

english

Fichier:

PDF, 748 KB

english, 1979

42

Endoneurial lipid composition of normal human sural nerve

Dr Mark J. Brown, Masao Iwamori, Yasuo Kishimoto, Stephen M. Ostroff, Hugo W. Moser, Arthur K. Asbury

Journal:

Annals of Neurology

Année:

1979

Langue:

english

Fichier:

PDF, 550 KB

english, 1979

43

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

Dr. Hugo W. Moser, Ann B. Moser, Nariko Kawamura, Jerome Murphy, Kunihiko Suzuki, Herbert Schaumburg, Yasuo Kishimoto

Journal:

Annals of Neurology

Année:

1980

Langue:

english

Fichier:

PDF, 667 KB

english, 1980

44

Failure to include coauthor of paper

Journal:

Annals of Neurology

Année:

1980

Langue:

english

Fichier:

PDF, 72 KB

english, 1980

45

Value of C26:0 fatty acid determination for the diagnosis of atypical adrenoleukodystrophy

Michel Philippart, Marc R. Nuwer, Wilhelm Mortier, Hugo W. Moser

Journal:

Annals of Neurology

Année:

1982

Langue:

english

Fichier:

PDF, 126 KB

english, 1982

46

Cataplexy in variant forms of Niemann-Pick disease

Raymond S. Kandt, Ronald G. Emerson, Harvey S. Singer, David L. Valle, Dr Hugo W. Moser

Journal:

Annals of Neurology

Année:

1982

Langue:

english

Fichier:

PDF, 530 KB

english, 1982

47

Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy

Dr Hugo W. Moser, Ann E. Moser, Inderjit Singh, P. O'Neill

Journal:

Annals of Neurology

Année:

1984

Langue:

english

Fichier:

PDF, 1.35 MB

english, 1984

48

Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy

Dr. Diane E. Griffin, Hugo W. Moser, Querubin Mendoza, Thomas R. Moench, Susan O'Toole, Ann B. Moser

Journal:

Annals of Neurology

Année:

1985

Langue:

english

Fichier:

PDF, 535 KB

english, 1985

49

A new dietary therapy for adrenoleukodystrophy: Biochemical and preliminary clinical results in 36 patients

Ann B. Moser, Janet Borel, Augusto Odone, Sakkubai Naidu, David Cornblath, Donald B. Sanders, Dr. Hugo W. Moser

Journal:

Annals of Neurology

Année:

1987

Langue:

english

Fichier:

PDF, 986 KB

english, 1987

50

Linkage of adrenoleukodystrophy to a polymorphic DNA probe

Patrick R. Aubourg, Dr. George H. Sack Jr., Deborah A. Meyers, John J. Lease, Hugo W. Moser

Journal:

Annals of Neurology

Année:

1987

Langue:

english

Fichier:

PDF, 402 KB

english, 1987