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1

Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy

Gregory Nemunaitis, Phillip B. Maples, Chris Jay, William A. Gahl, Marjan Huizing, Justin Poling, Alex W. Tong, Anagha P. Phadke, Beena O. Pappen, Cynthia Bedell, Nancy S. Templeton, Joseph Kuhn, Neil

Journal:

The Journal of Gene Medicine

Year:

2010

Language:

english

File:

PDF, 521 KB

english, 2010

2

Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)

Yair Anikster, Cynthia Lucero, Jeffrey W. Touchman, Marjan Huizing, Geraldine McDowell, Vorasuk Shotelersuk, Eric D. Green, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 135 KB

english, 1999

3

Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

Marjan Huizing, Yair Anikster, Diana L. Fitzpatrick, Anna B. Jeong, Maria D’Souza, Melanie Rausche, Jorge R. Toro, Muriel I. Kaiser-Kupfer, James G. White, William A. Gahl

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.70 MB

english, 2001

4

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant

Yeetong, Patra, Vilboux, Thierry, Ciccone, Carla, Boulier, Kristin, Schnur, Rhonda E., Gahl, William A., Huizing, Marjan, Laje, Gonzalo, Smith, Ann C. M.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 335 KB

english, 2016

5

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Power, Bradley, Ferreira, Carlos R., Chen, Dong, Zein, Wadih M., O’Brien, Kevin J., Introne, Wendy J., Stephen, Joshi, Gahl, William A., Huizing, Marjan, Malicdan, May Christine V., Adams, David R., G

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 6.71 MB

english, 2019

6

Hermansky‐Pudlak Syndrome: Mutation Update

Huizing, Marjan, Malicdan, May Christine V., Wang, Jennifer A., Pri‐Chen, Hadass, Hess, Richard A., Fischer, Roxanne, O'Brien, Kevin J., Merideth, Melissa A., Gahl, William A., Gochuico, Bernadette R.

Journal:

Year:

2020

Language:

english

File:

PDF, 1.15 MB

english, 2020

7

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs

Rick A. Martin, Rachel Slaugh, Marvin Natowicz, Kayla Pearlman, Eduard Orvisky, Donna Krasnewich, Robert Kleta, Marjan Huizing, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 159 KB

english, 2003

8

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

Robert Kleta, David J. Aughton, Michael J. Rivkin, Marjan Huizing, Erin Strovel, Yair Anikster, Eduard Orvisky, Marvin Natowicz, Donna Krasnewich, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 220 KB

english, 2003

9

Hermansky–Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis

Esther B. Bachli, Thomas Brack, Elisabeth Eppler, Thomas Stallmach, Ralph M. Trüeb, Marjan Huizing, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 426 KB

english, 2004

10

Hermansky–Pudlak syndrome in two African-American brothers

Melissa A. Merideth, Lisa M. Vincent, Susan E. Sparks, Richard A. Hess, Irini Manoli, Kevin J. O'Brien, Ekaterina Tsilou, James G. White, Marjan Huizing, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 247 KB

english, 2009

11

Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

Eilis A. Boudreau, Kyle P. Johnson, Angela R. Jackman, Jan Blancato, Marjan Huizing, Claude Bendavid, MaryPat Jones, Settara C. Chandrasekharappa, Alfred J. Lewy, Ann C.M. Smith, R. Ellen Magenis

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 346 KB

english, 2009

12

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

Eric Z. Jordens, Luigi Palmieri, Marjan Huizing, Lambert P. Van Den Heuvel, Rob C. A. Sengers, Andrea Dörner, Wim Ruitenbeek, Frans J. Trijbels, Jullius Valsson, Gunnlaugur Sigfusson, Ferdinando Palmi

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 2.95 MB

english, 2002

13

Free sialic acid storage disease without sialuria

Fanny Mochel, Bingzhi Yang, Julie Barritault, Jerry N. Thompson, Udo F. H. Engelke, Nathan H. McNeill, William S. Benko, Christine R. Kaneski, David R. Adams, Maria Tsokos, Mones Abu-Asab, Marjan Huiz

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 101 KB

english, 2009

14

Rapid and noninvasive screening of patients with mitochondrial myopathy

Nicky Kotsimbos, M. J. Bernadette Jean-Francois, Marjan Huizing, Robert M. I. Kapsa, Patcharee Lertrit, Nurjati C. Siregar, Sangkot Marzuki, Carolyn Sue, Edward Byrne

Journal:

Year:

1994

Language:

english

File:

PDF, 394 KB

english, 1994

15

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

Thierry Vilboux, Michael Kayser, Wendy Introne, Pim Suwannarat, Isa Bernardini, Roxanne Fischer, Kevin O'Brien, Robert Kleta, Marjan Huizing, William A. Gahl

Journal:

Year:

2009

Language:

english

File:

PDF, 234 KB

english, 2009

16

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases

Christina R. Hermos, Marjan Huizing, Muriel I. Kaiser-Kupfer, William A. Gahl

Journal:

Year:

2002

Language:

english

File:

PDF, 1.81 MB

english, 2002

17

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics

Nira Schreyer-Shafir, Marjan Huizing, Yair Anikster, Ziva Nusinker, Idit Bejarano-Achache, Genia Maftzir, Luba Resnik, Amanda Helip-Wooley, Wendy Westbroek, Libe Gradstein, Ada Rosenmann, Anat Blumenf

Journal:

Year:

2006

Language:

english

File:

PDF, 528 KB

english, 2006

18

Hermansky–Pudlak Syndrome: Vesicle Formation from Yeast to Man

Marjan Huizing, Raymond E. Boissy, William A. Gahl

Journal:

Pigment Cell & Melanoma Research

Year:

2002

Language:

english

File:

PDF, 565 KB

english, 2002

19

Hermansky–Pudlak Syndrome and Related Disorders of Organelle Formation

Marjan Huizing, Yair Anikster, William A. Gahl

Journal:

Year:

2000

Language:

english

File:

PDF, 253 KB

english, 2000

20

Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome

Tehila Hyman, Marjan Huizing, Peter M. Blumberg, Tzipora C. Falik-Zaccai, Yair Anikster, William A. Gahl

Journal:

British Journal of Haematology

Year:

2003

Language:

english

File:

PDF, 527 KB

english, 2003

21

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

Amanda Helip-Wooley, Wendy Westbroek, Heidi Dorward, Mieke Mommaas, Raymond E Boissy, William A Gahl, Marjan Huizing

Journal:

BMC Cell Biology

Year:

2005

Language:

english

File:

PDF, 3.62 MB

english, 2005

22

Importance of mitochondrial transmembrane processes in human mitochondriopathies

Marjan Huizing, Vito DePinto, Wim Ruitenbeek, Frans J. M. Trijbels, Lambert P. van den Heuvel, Udo Wendel

Journal:

Journal of Bioenergetics and Biomembranes

Year:

1996

Language:

english

File:

PDF, 460 KB

english, 1996

23

Hermansky-Pudlak syndrome type

Paul D. Anderson, Marjan Huizing, David A. Claassen, James White, William A. Gahl

Journal:

Year:

2003

Language:

english

File:

PDF, 364 KB

english, 2003

24

Melanocytes Derived from Patients with Hermansky–Pudlak Syndrome Types 1, 2, and 3 Have Distinct Defects in Cargo Trafficking

Richmond, Bonnie, Huizing, Marjan, Knapp, Jill, Koshoffer, Amy, Zhao, Yang, Gahl, William A, Boissy, Raymond E

Journal:

The Journal of Investigative Dermatology

Year:

2005

Language:

english

File:

PDF, 1.22 MB

english, 2005

25

Identifying Putative Promoter Regions of Hermansky-Pudlak Syndrome Genes by Means of Phylogenetic Footprinting

Horia Stanescu, Tyra G. Wolfsberg, R. Travis Moreland, Mariam H. Ayub, Elizabeth Erickson, Wendy Westbroek, Marjan Huizing, William A. Gahl, Amanda Helip-Wooley

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 307 KB

english, 2009

26

Rab27b is Up-Regulated in Human Griscelli Syndrome Type II Melanocytes and Linked to the Actin Cytoskeleton via Exon F-Myosin Va Transcripts

Wendy Westbroek, Jo Lambert, Sofie De Schepper, Robert Kleta, Karolien Van Den Bossche, Miguel C. Seabra, Marjan Huizing, Mieke Mommaas, Jean Marie Naeyaert

Journal:

Pigment Cell & Melanoma Research

Year:

2004

Language:

english

File:

PDF, 223 KB

english, 2004

27

Rab7 and Rab27a control two motor protein activities involved in melanosomal transport

Ingrid Jordens, Wendy Westbroek, Marije Marsman, Nuno Rocha, Mieke Mommaas, Marjan Huizing, Jo Lambert, Jean M. Naeyaert, Jacques Neefjes

Journal:

Pigment Cell & Melanoma Research

Year:

2006

Language:

english

File:

PDF, 1.24 MB

english, 2006

28

Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5

Marjan Huizing, Richard Hess, Heidi Dorward, David A. Claassen, Amanda Helip-Wooley, Robert Kleta, Muriel I. Kaiser-Kupfer, James G. White, William A. Gahl

Journal:

Year:

2004

Language:

english

File:

PDF, 7.89 MB

english, 2004

29

10.1038/ng576

Anikster, Yair, Huizing, Marjan, White, James, Shevchenko, Yuriy O., Fitzpatrick, Diana L., Touchman, Jeffrey W., Compton, John G., Bale, Sherri J., Swank, Richard T., Gahl, William A., Toro, Jorge R.

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 985 KB

english, 2001

30

Improper Trafficking of Melanocyte-Specific Proteins in Hermansky–Pudlak Syndrome Type-5

Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi M, Koshoffer, Amy, Huizing, Marjan, Boissy, Raymond E, Gahl, William A

Journal:

The Journal of Investigative Dermatology

Year:

2007

Language:

english

File:

PDF, 375 KB

english, 2007

31

Cellular Defects in Chediak–Higashi Syndrome Correlate with the Molecular Genotype and Clinical Phenotype

Westbroek, Wendy, Adams, David, Huizing, Marjan, Koshoffer, Amy, Dorward, Heidi, Tinloy, Bradford, Parkes, Jennifer, Helip-Wooley, Amanda, Kleta, Robert, Tsilou, Ekaterina

Journal:

The Journal of Investigative Dermatology

Year:

2007

Language:

english

File:

PDF, 180 KB

english, 2007

32

Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex

Frans J.M. Trijbels, Wim Ruitenbeek, Marjan Huizing, Udo Wendel, Jan A.M. Smeitink, Rob C.A. Sengers

Journal:

Molecular and Cellular Biochemistry

Year:

1997

Language:

english

File:

PDF, 19 KB

english, 1997

33

Human Mitochondrial Transmembrane Metabolite Carriers: Tissue Distribution and Its Implication for Mitochondrial Disorders

Marjan Huizing, Wim Ruitenbeek, Lambert P. van den Heuvel, Vincenza Dolce, Vito Iacobazzi, Jan A. M. Smeitink, Ferdinando Palmieri, J. M. Frans Trijbels

Journal:

Journal of Bioenergetics and Biomembranes

Year:

1998

Language:

english

File:

PDF, 869 KB

english, 1998

34

Disturbances in mitochondrial transport systems leading to encephalomyopathies

Frans Trijbels, Marjan Huizing, Wim Ruitenbeek, Rob Sengers, Jan Smeitink, Vito Depinto, Udo Wendel

Journal:

Year:

1998

Language:

english

File:

PDF, 25 KB

english, 1998

35

A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

Andrew R. Cullinane, James A. Curry, Carmelo Carmona-Rivera, C. Gail Summers, Carla Ciccone, Nicholas D. Cardillo, Heidi Dorward, Richard A. Hess, James G. White, David Adams, Marjan Huizing, William

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.09 MB

english, 2011

36

MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome

Meral Gunay-Aygun, Melissa A. Parisi, Dan Doherty, Maya Tuchman, Ekaterini Tsilou, David E. Kleiner, Marjan Huizing, Baris Turkbey, Peter Choyke, Lisa Guay-Woodford, Theo Heller, Katarzyna Szymanska,

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 1.93 MB

english, 2009

37

Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome

Antoine De Leusse, Evelyne Dupuy, Marjan Huizing, Claire Danel, Guy Meyer, Raymond Jian, Philippe Marteau

Journal:

Gastroentérologie Clinique et Biologique

Year:

2006

File:

PDF, 298 KB

2006

38

A novel mutation in a Turkish patient with Hermansky–Pudlak syndrome type 5

Lindy-Anne Korswagen, Marjan Huizing, Suat Simsek, Jeroen J.W.M. Janssen, Sonja Zweegman

Journal:

European Journal of Haematology

Year:

2008

Language:

english

File:

PDF, 136 KB

english, 2008

39

The BLOS1-Interacting Protein KXD1 is Involved in the Biogenesis of Lysosome-Related Organelles

Qing Yang, Xin He, Lin Yang, Zhiyong Zhou, Andrew R. Cullinane, Aihua Wei, Zhe Zhang, Zhenhua Hao, Aili Zhang, Min He, Yaqin Feng, Xiang Gao, William A. Gahl, Marjan Huizing, Wei Li

Journal:

Year:

2012

Language:

english

File:

PDF, 10.57 MB

english, 2012

40

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

Susan Sparks, Goran Rakocevic, Galen Joe, Irini Manoli, Joseph Shrader, Michael Harris-Love, Barbara Sonies, Carla Ciccone, Heidi Dorward, Donna Krasnewich, Marjan Huizing, Marinos C Dalakas, William

Journal:

Year:

2007

Language:

english

File:

PDF, 622 KB

english, 2007

41

Mapping of the Human Voltage-Dependent Anion Channel Isoforms 1 and 2 Reconsidered

Angela Messina, Marta Oliva, Cecilia Rosato, Marjan Huizing, Wim Ruitenbeek, Lambert P. van den Heuvel, Michael Forte, Mariano Rocchi, Vito De Pinto

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 144 KB

english, 1999

42

Sialuria in a Portuguese Girl: Clinical, Biochemical, and Molecular Characteristics

Helena Ferreira, Raili Seppala, Rui Pinto, Marjan Huizing, Esmeralda Martins, Ana Cristina Braga, Lourenco Gomes, Donna M. Krasnewich, M.Clara Sa Miranda, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 224 KB

english, 1999

43

CTNS Mutations in African American Patients with Cystinosis

Robert Kleta, Yair Anikster, Cynthia Lucero, Vorasuk Shotelersuk, Marjan Huizing, Isa Bernardini, Margaret Park, Jess Thoene, Jerry Schneider, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 282 KB

english, 2001

44

Characterization of the Murine Gene Corresponding to Human Hermansky-Pudlak Syndrome Type 3: Exclusion of the Subtle Gray (sut) Locus

Marjan Huizing, Yair Anikster, James G. White, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 415 KB

english, 2001

45

Hereditary Inclusion Body Myopathy: A decade of progress

Marjan Huizing, Donna M. Krasnewich

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2009

Language:

english

File:

PDF, 917 KB

english, 2009

46

Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

Libe Gradstein, Edmond J. FitzGibbon, Ekaterini T. Tsilou, Benjamin I. Rubin, Marjan Huizing, William A. Gahl

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2005

Language:

english

File:

PDF, 389 KB

english, 2005

47

Milder ocular findings in Hermansky–Pudlak syndrome type 3 compared with Hermansky–Pudlak syndrome type 1

Ekaterini T Tsilou, Benjamin I Rubin, George F Reed, Lessie McCain, Marjan Huizing, James White, Muriel I Kaiser-Kupfer, William Gahl

Journal:

Year:

2004

Language:

english

File:

PDF, 268 KB

english, 2004

48

Seeking the biochemical basis of type III 3-methylglutaconic aciduria through zebrafish models

Wuhong Pei, Isa Bernardini, Christopher Wassif, Forbes Porter, Yair Anikster, Marjan Huizing, Benjamin Feldman

Journal:

Developmental Biology

Year:

2008

Language:

english

File:

PDF, 65 KB

english, 2008

49

Hypoglycosylation of α-dystroglycan in patients with hereditary IBM due to GNE mutations

Marjan Huizing, Goran Rakocevic, Susan E Sparks, Ioanna Mamali, Alexey Shatunov, Lev Goldfarb, Donna Krasnewich, William A Gahl, Marinos C Dalakas

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 930 KB

english, 2004

50

Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy

Emily Gottlieb, Carla Ciccone, Daniel Darvish, Shahrouz Naiem-Cohen, Marinos C. Dalakas, Paul J. Savelkoul, Donna M. Krasnewich, William A. Gahl, Marjan Huizing

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 250 KB

english, 2005

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