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1

Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31–q33

Christine M. Eng, Susan A. Slaugenhaupt, Anat Blumenfeld, Felicia B. Axelrod, James F. Gusella, Robert J. Desnick

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 747 KB

english, 1995

2

Identification of the first non-Jewish mutation in familial Dysautonomia

Maire Leyne, James Mull, Sandra P. Gill, Math P. Cuajungco, Carole Oddoux, Anat Blumenfeld, Channa Maayan, James F. Gusella, Felicia B. Axelrod, Susan A. Slaugenhaupt

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 69 KB

english, 2003

3

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia

El Chérif Ibrahim, Matthew M. Hims, Noam Shomron, Christopher B. Burge, Susan A. Slaugenhaupt, Robin Reed

Journal:

Year:

2007

Language:

english

File:

PDF, 649 KB

english, 2007

4

Prenatal diagnostic testing for familial dysautonomia using linked genetic markers

Carole Oddoux, Elsa Reich, Felicia Axelrod, Anat Blumenfeld, Channa Maayan, Susan Slaugenhaupt, James Gusella, Harry Ostrer

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 828 KB

english, 1995

5

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

Matthew M. Hims, El Chérif Ibrahim, Maire Leyne, James Mull, Lijuan Liu, Conxi Lazaro, Ranjit S. Shetty, Sandra Gill, James F. Gusella, Robin Reed, Susan A. Slaugenhaupt

Journal:

Journal of Molecular Medicine

Year:

2007

Language:

english

File:

PDF, 678 KB

english, 2007

6

Fludrocortisone in patients with familial dysautonomia

Felicia B. Axelrod, Judith D. Goldberg, Linda Rolnitzky, James Mull, Sandra P. Mann, Gabrielle Gold von Simson, Dena Berlin, Susan A. Slaugenhaupt

Journal:

Clinical Autonomic Research

Year:

2005

Language:

english

File:

PDF, 318 KB

english, 2005

7

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

Blumenfeld, Anat, Slaugenhaupt, Susan A., Axelrod, Felicia B., Lucente, Diane E., Maayan, Channa, Liebert, Christopher B., Ozelius, Laurie J., Trofatter, James A., Haines, Jonathan L., Breakefield, Xa

Journal:

Nature Genetics

Year:

1993

File:

PDF, 455 KB

1993

8

Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?

Éva Mezey, Alissa Parmalee, Ildiko Szalayova, Sandra P. Gill, Math P. Cuajungco, Maire Leyne, Susan A. Slaugenhaupt, Michael J. Brownstein

Journal:

Year:

2003

Language:

english

File:

PDF, 641 KB

english, 2003

9

The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene

Susan A. Slaugenhaupt, Anat Blumenfeld, Christopher B. Liebert, James Mull, Diane E. Lucente, Marianne Monahan, Xandra O. Breakefield, Channa Maayan, Luis Parada, Felicia B. Axelrod, James F. Gusella

Journal:

Year:

1995

Language:

english

File:

PDF, 361 KB

english, 1995

10

Transcription Impairment and Cell Migration Defects in Elongator-Depleted Cells: Implication for Familial Dysautonomia

Pierre Close, Nicola Hawkes, Isabelle Cornez, Catherine Creppe, Charles A. Lambert, Bernard Rogister, Ulrich Siebenlist, Marie-Paule Merville, Susan A. Slaugenhaupt, Vincent Bours, Jesper Q. Svejstrup

Journal:

Year:

2006

Language:

english

File:

PDF, 648 KB

english, 2006

11

Familial dysautonomia

Susan A Slaugenhaupt, James F Gusella

Journal:

Current Opinion in Genetics & Development

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

12

Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31

Anat Blumenfeld, Susan A. Slaugenhaupt, Christopher B. Liebert, Violeta Temper, Channa Maayan, Sandra Gill, Diane E. Lucente, Maria Idelson, Kathy MacCormack, Mary Anne Monahan, James Mull, Maire Leyn

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 716 KB

english, 1999

13

Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia

Susan A. Slaugenhaupt, Anat Blumenfeld, Sandra P. Gill, Maire Leyne, James Mull, Math P. Cuajungco, Christopher B. Liebert, Brian Chadwick, Maria Idelson, Luba Reznik, Christiane M. Robbins, Izabela M

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 904 KB

english, 2001

14

Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia

Math P. Cuajungco, Maire Leyne, James Mull, Sandra P. Gill, Weining Lu, David Zagzag, Felicia B. Axelrod, Channa Maayan, James F. Gusella, Susan A. Slaugenhaupt

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 363 KB

english, 2003

15

Genetics of familial dysautonomia

Susan A. Slaugenhaupt

Journal:

Clinical Autonomic Research

Year:

2002

Language:

english

File:

PDF, 259 KB

english, 2002

16

Exclusion of familial dysautonomia from more than 60% of the genome.

Blumenfeld, A, Axelrod, F B, Trofatter, J A, Maayan, C, Lucente, D E, Slaugenhaupt, S A, Liebert, C B, Ozelius, L J, Haines, J L, Breakefield, X O

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 992 KB

english, 1993

17

Kinetin in Familial Dysautonomia Carriers: Implications for a New Therapeutic Strategy Targeting mRNA Splicing

Gold-von Simson, Gabrielle, Goldberg, Judith D, Rolnitzky, Linda M, Mull, James, Leyne, Maire, Voustianiouk, Andrei, Slaugenhaupt, Susan A, Axelrod, Felicia B

Journal:

Pediatric Research

Year:

2009

Language:

english

File:

PDF, 419 KB

english, 2009

18

IKBKAP mRNA in Peripheral Blood Leukocytes: A Molecular Marker of Gene Expression and Splicing in Familial Dysautonomia

Gold-von Simson, Gabrielle, Leyne, Maire, Mull, James, Rolnitzky, Linda M, Goldberg, Judith D, Berlin, Dena, Axelrod, Felicia B, Slaugenhaupt, Susan A

Journal:

Pediatric Research

Year:

2008

Language:

english

File:

PDF, 258 KB

english, 2008

19

Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia

Axelrod, Felicia B, Liebes, Leonard, Gold-von Simson, Gabrielle, Mendoza, Sandra, Mull, James, Leyne, Maire, Norcliffe-Kaufmann, Lucy, Kaufmann, Horacio, Slaugenhaupt, Susan A

Journal:

Pediatric Research

Year:

2011

Language:

english

File:

PDF, 258 KB

english, 2011

20

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia

Morini, Elisabetta, Dietrich, Paula, Salani, Monica, Downs, Heather M., Wojtkiewicz, Gregory R., Alli, Shanta, Brenner, Anthony, Nilbratt, Mats, LeClair, John W., Oaklander, Anne Louise, Slaugenhaupt,

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.07 MB

english, 2016

21

FAMILIAL DYSAUTONOMIA: HISTORY, GENOTYPE, PHENOTYPE AND TRANSLATIONAL RESEARCH

Norcliffe-Kaufmann, Lucy, Slaugenhaupt, Susan A., Kaufmann, Horacio

Journal:

Progress in Neurobiology

Year:

2016

Language:

english

File:

PDF, 1.30 MB

english, 2016

22

Exon Specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a Familial Dysautonomia mouse model

Donadon, Irving, Pinotti, Mirko, Rajkowska, Katarzyna, Pianigiani, Giulia, Barbon, Elena, Morini, Elisabetta, Motaln, Helena, Rogelj, Boris, Mingozzi, Federico, Slaugenhaupt, Susan A, Pagani, Franco

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 11.49 MB

english, 2018

23

Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia

Salani, Monica, Urbina, Fabio, Brenner, Anthony, Morini, Elisabetta, Shetty, Ranjit, Gallagher, C. Scott, Law, Emily A., Sunshine, Sara, Finneran, Dylan J., Johnson, Graham, Minor, Lisa, Slaugenhaupt,

Journal:

Year:

2018

Language:

english

File:

PDF, 671 KB

english, 2018

24

Intestinal cell kinase (ICK) localizes to the crypt region and requires a dual phosphorylation site found in map kinases

Kazumi Togawa, Yu-Xin Yan, Takuya Inomoto, Susan Slaugenhaupt, Anil K. Rustgi

Journal:

Journal of Cellular Physiology

Year:

2000

Language:

english

File:

PDF, 526 KB

english, 2000

25

Expression of the familial cardiac valvular dystrophy gene, filamin-A, during heart morphogenesis

R.A. Norris, R. Moreno-Rodriguez, A. Wessels, J. Merot, P. Bruneval, A.H. Chester, M.H. Yacoub, A. Hagège, S.A. Slaugenhaupt, E. Aikawa, J.J. Schott, A. Lardeux, B.S. Harris, L.K. Williams, A. Richard

Journal:

Developmental Dynamics

Year:

2010

Language:

english

File:

PDF, 3.72 MB

english, 2010

26

Chaperone-mediated autophagy is defective in mucolipidosis type IV

Bhuvarahamurthy Venugopal, Nicholas T. Mesires, John C. Kennedy, Cyntia Curcio-Morelli, Janice M. LaPlante, J. Fred Dice, Susan A. Slaugenhaupt

Journal:

Journal of Cellular Physiology

Year:

2009

Language:

english

File:

PDF, 330 KB

english, 2009

27

Functional multimerization of mucolipin channel proteins

Cyntia Curcio-Morelli, Peng Zhang, Bhuvarahamurthy Venugopal, Florie A. Charles, Marsha F. Browning, Horacio F. Cantiello, Susan A. Slaugenhaupt

Journal:

Journal of Cellular Physiology

Year:

2010

Language:

english

File:

PDF, 357 KB

english, 2010

28

REPORT on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996

S. POVEY, J. ATTWOOD, B. CHADWICK, J. FREZAL, J. L. HAINES, M. KNOWLES, D. J. KWIATKOWSKI, O. I. OLOPADE, S. SLAUGENHAUPT, N. K. SPURR, M. SMITH, K. STEEL, J. A. WHITE, M. A. PERICAK-VANCE

Journal:

Annals of Human Genetics

Year:

1997

Language:

english

File:

PDF, 771 KB

english, 1997

29

REPORT on the Sixth International Workshop on Chromosome 9 held at Denver, Colorado, U.S.A., 27 October 1998

B. P. CHADWICK, L. J. CAMPBELL, C. L. JACKSON, L. OZELIUS, S. A. SLAUGENHAUPT, D. A. STEPHENSON, J. H. EDWARDS, J. WIEST, S. POVEY

Journal:

Annals of Human Genetics

Year:

1999

Language:

english

File:

PDF, 394 KB

english, 1999

30

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)ndinucleotide repeat

Michael B. Petersen, James L. Weber, Susan A. Slaugenhaupt, Anne E. Kwitek, Melvin G. McInnis, Aravinda Chakravarti, Stylianos E. Antonarakis

Journal:

Year:

1991

Language:

english

File:

PDF, 402 KB

english, 1991

31

The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1

Mohammad A. Samie, Christian Grimm, Jeffrey A. Evans, Cyntia Curcio-Morelli, Stefan Heller, Susan A. Slaugenhaupt, Math P. Cuajungco

Journal:

Pflügers Archiv European Journal of Physiology

Year:

2009

Language:

english

File:

PDF, 313 KB

english, 2009

32

Genetic mechanisms of mitral valve prolapse

Susan A. Slaugenhaupt, Robert A. Levine, Albert A. Hagege, Xavier Jeunemaitre, Hervé Le Marec, Jean-Jacques Schott, Vincent Probst

Journal:

Current Cardiovascular Risk Reports

Year:

2008

Language:

english

File:

PDF, 248 KB

english, 2008

33

The gene for achondroplasia maps to the telomeric region of chromosome 4p

Velinov, Milen, Slaugenhaupt, Susan A., Stoilov, Ivaylo, Scott, Charles I., Gusella, James F., Tsipouras, Petros

Journal:

Nature Genetics

Year:

1994

File:

PDF, 345 KB

1994

34

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

Angrist, Misha, Kauffman, Erick, Slaugenhaupt, Susan A., Cox Matise, Tara, Puffenberger, Erik G., Shaw Washington, Sarah, Lipson, Anthony, Cass, Daniel T., Reyna, Troy, Weeks, Daniel E.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 676 KB

1993

35

Peripherin gene is linked to keratin 18 gene on human chromosome 12

Anat Blumenfeld, Diane E. Lucente, James A. Trofatter, Terry Lerner, Susan A. Slaugenhaupt, Christopher B. Liebert, Marianne Monahan, Jonathan L. Haines, James F. Gusella, Xandra O. Breakefield, Linda

Journal:

Somatic Cell and Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 365 KB

english, 1995

36

Macroautophagy is defective in mucolipin-1-deficient mouse neurons

Cyntia Curcio-Morelli, Florie A. Charles, Matthew C. Micsenyi, Yi Cao, Bhuvarahamurthy Venugopal, Marsha F. Browning, Kostantin Dobrenis, Susan L. Cotman, Steven U. Walkley, Susan A. Slaugenhaupt

Journal:

Neurobiology of Disease

Year:

2010

Language:

english

File:

PDF, 1.21 MB

english, 2010

37

The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain

Janice M. LaPlante, John L. Falardeau, Edward M. Brown, Susan A. Slaugenhaupt, Peter M. Vassilev

Journal:

Experimental Cell Research

Year:

2011

Language:

english

File:

PDF, 1.49 MB

english, 2011

38

Cloning and characterization of the mouseMcoln1gene reveals an alternatively spliced transcript not seen in humans

John L Falardeau, John C Kennedy, James S Acierno, Mei Sun, Stefanie Stahl, Ehud Goldin, Susan A Slaugenhaupt

Journal:

Year:

2002

Language:

english

File:

PDF, 990 KB

english, 2002

39

REPORT on the Fourth International Workshop on Chromosome 9: held at Williamsburg, Virginia, USA, April 23–25, 1995

M. A. PERICAK-VANCE, A. E. BALE, J. L. HAINES, D. J. KWIATKOWSKI, A. PILZ, S. SLAUGENHAUPT, J. A. WHITE, J. H. EDWARDS, D. MARCHUK, O. I. OLOPADE, J. ATTWOOD, S. POVEY

Journal:

Annals of Human Genetics

Year:

1995

Language:

english

File:

PDF, 1.30 MB

english, 1995

40

Mapping of the Gene for the Mel1a-Melatonin Receptor to Human Chromosome 4 (MTNR1A) and Mouse Chromosome 8 (Mtnr1a)

Susan A. Slaugenhaupt, Alfred L. Roca, Christopher B. Liebert, Michael R. Altherr, James F. Gusella, Steven M. Reppert

Journal:

Year:

1995

File:

PDF, 141 KB

1995

41

Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV

Janice M. LaPlante, C.P. Ye, Stephen J. Quinn, Ehud Goldin, Edward M. Brown, Susan A. Slaugenhaupt, Peter M. Vassilev

Journal:

Biochemical and Biophysical Research Communications

Year:

2004

Language:

english

File:

PDF, 1.53 MB

english, 2004

42

Atrioventricular valve development: New perspectives on an old theme

Annemarieke de Vlaming, Kimberly Sauls, Zoltan Hajdu, Richard P. Visconti, Agnes Nagy Mehesz, Robert A. Levine, Susan A. Slaugenhaupt, Albert Hagège, Adrian H. Chester, Roger R. Markwald, Russell A. N

Journal:

Differentiation

Year:

2012

Language:

english

File:

PDF, 1.65 MB

english, 2012

43

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect

Matthew M. Hims, Ranjit S. Shetty, James Pickel, James Mull, Maire Leyne, Lijuan Liu, James F. Gusella, Susan A. Slaugenhaupt

Journal:

Year:

2007

Language:

english

File:

PDF, 831 KB

english, 2007

44

Lysosomal exocytosis is impaired in mucolipidosis type IV

Janice M. LaPlante, Mei Sun, John Falardeau, Daisy Dai, Edward M. Brown, Susan A. Slaugenhaupt, Peter M. Vassilev

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 1.06 MB

english, 2006

45

92. A murine model for mucolipidosis type IV

Susan Slaugenhaupt, Cyntia Curcio-Morelli, Bhuvaramurthy Venugopal, Andrea Varro, Norman Michaud, Nanda Nanthakumar, Steven Walkley, James Pickel, Browning Marsha

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

46

134. Characterization of neuronal storage in the mucolipidosis type IV murine model

Susan Slaugenhaupt, Cyntia Curcio-Morelli, Florie Charles, Bhuvarahamurthy Venugopal, Yi Cao, Marsha Browning, Steven Walkley, James Pickel, Susan Cotman, Dominck P. Purpura

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

47

34. Macroautophagy is defective in mucolipin 1-deficient mouse neurons

Cyntia Curcio-Morelli, Florie A. Charles, Matthew C. Micsenyi, Yi Cao, Bhuvarahamurthy Venugopal, Marsha F. Browning, Kostantin Dobrenis, Susan L. Cotman, Steven U. Walkley, Susan A. Slaugenhaupt

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

48

Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway

Janice M LaPlante, John Falardeau, Mei Sun, Marie Kanazirska, Edward M Brown, Susan A Slaugenhaupt, Peter M Vassilev

Journal:

Year:

2002

Language:

english

File:

PDF, 662 KB

english, 2002

49

Mapping of the Mucolipidosis Type IV Gene to Chromosome 19p and Definition of Founder Haplotypes

Susan A. Slaugenhaupt, James S. Acierno Jr., Lisa Anne Helbling, Catherine Bove, Ehud Goldin, Gideon Bach, Raphael Schiffmann, James F. Gusella

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 403 KB

english, 1999

50

A Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 11p15.4

Lisa A. Freed, James S. Acierno Jr., Daisy Dai, Maire Leyne, Jane E. Marshall, Francesca Nesta, Robert A. Levine, Susan A. Slaugenhaupt

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.31 MB

english, 2003

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