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Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1906, doi. 10.1002/ajmg.a.61641
By:
- Schmidt, Johanna L.;
- Pizzino, Amy;
- Nicholl, Jessica;
- Foley, Allison;
- Wang, Yue;
- Rosenfeld, Jill A.;
- Mighion, Lindsey;
- Bean, Lora;
- Silva, Cristina;
- Cho, Megan T.;
- Truty, Rebecca;
- Garcia, John;
- Speare, Virginia;
- Blanco, Kirsten;
- Powis, Zoe;
- Hobson, Grace M.;
- Kirwin, Susan;
- Krock, Bryan;
- Lee, Hane;
- Deignan, Joshua L.
Publication type:
Article
Glucocorticoids Decrease Interleukin-6 Levels and Induce Mineralization of Cultured Osteogenic Cells from Children with Fibrous Dysplasia.
Published in:
Journal of Bone & Mineral Research, 1999, v. 14, n. 7, p. 1104, doi. 10.1359/jbmr.1999.14.7.1104
By:
- Stanton, Robert P.;
- Hobson, Grace M.;
- Montgomery, Ben E.;
- Moses, Priscilla A.;
- Smith-Kirwin, Susan M.;
- Funanage, Vicky L.
Publication type:
Article
Developmental Expression of Creatine Kinase Isoenzymes in Chicken Growth Cartilage.
Published in:
Journal of Bone & Mineral Research, 1999, v. 14, n. 5, p. 747, doi. 10.1359/jbmr.1999.14.5.747
By:
- Hobson, Grace M.;
- Funanage, Vicky L.;
- Elsemore, Jennifer;
- Yagami, Machiko;
- Rajpurohit, Ramesh;
- Perriard, Jean-Claude;
- Hickok, Noreen J.;
- Shapiro, Irving M.;
- Tuan, Rocky S.
Publication type:
Article
PLP1 alternative splicing in differentiating oligodendrocytes: Characterization of an exonic splicing enhancer.
Published in:
Journal of Cellular Biochemistry, 2006, v. 97, n. 5, p. 999, doi. 10.1002/jcb.20692
By:
- Erming Wang;
- Zhong Huang;
- Grace M. Hobson;
- Neviana Dimova;
- Karen Sperle;
- Andrew McCullough;
- Franca Cambi
Publication type:
Article
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease.
Published in:
Brain: A Journal of Neurology, 2005, v. 128, n. 4, p. 743, doi. 10.1093/brain/awh409
By:
- Nicole I. Wolf;
- Erik A. Sistermans;
- Maria Cundall;
- Grace M. Hobson;
- Angelique P. Davis-Williams;
- Rodger Palmer;
- Paula Stubbs;
- Sally Davies;
- Milda Endziniene;
- Yvonne Wu;
- Wui K. Chong;
- Sue Malcolm;
- Robert Surtees;
- James Y. Garbern;
- Karen J. Woodward
Publication type:
Article
Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1.
Published in:
Acta Neuropathologica, 2009, v. 118, n. 4, p. 531, doi. 10.1007/s00401-009-0562-8
By:
- Sima, Anders A. F.;
- Pierson, Christopher R.;
- Woltjer, Randall L.;
- Hobson, Grace M.;
- Golden, Jeffrey A.;
- Kupsky, William J.;
- Schauer, Galen M.;
- Bird, Thomas D.;
- Skoff, Robert P.;
- Garbern, James Y.
Publication type:
Article
Genome sequencing in persistently unsolved white matter disorders.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 144, doi. 10.1002/acn3.50957
By:
- Helman, Guy;
- Lajoie, Bryan R.;
- Crawford, Joanna;
- Takanohashi, Asako;
- Walkiewicz, Marzena;
- Dolzhenko, Egor;
- Gross, Andrew M.;
- Gainullin, Vladimir G.;
- Bent, Stephen J.;
- Jenkinson, Emma M.;
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- Dorboz, Imen;
- Bertini, Enrico;
- Miyake, Noriko;
- Wolf, Nicole I.;
- Abbink, Truus E. M.;
- Kirwin, Susan M.;
- Tan, Christina M.;
- Hobson, Grace M.
Publication type:
Article
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
Published in:
Annals of Neurology, 2006, v. 59, n. 2, p. 398
By:
- Jennifer A. Lee;
- Ricardo E. Madrid;
- Karen Sperle;
- Carolyn M. Ritterson;
- Grace M. Hobson;
- James Garbern;
- James R. Lupski;
- Ken Inoue
Publication type:
Article
A PLP splicing abnormality is associated with an unusual presentation of PMD.
Published in:
Annals of Neurology, 2002, v. 52, n. 4, p. 477, doi. 10.1002/ana.10320
By:
- Hobson, Grace M.;
- Huang, Zhong;
- Sperle, Karen;
- Stabley, Deborah L.;
- Marks, Harold G.;
- Cambi, Franca
Publication type:
Article
Auditory function in Pelizaeus-Merzbacher disease.
Published in:
Journal of Neurology, 2018, v. 265, n. 7, p. 1580, doi. 10.1007/s00415-018-8884-x
By:
- Morlet, Thierry;
- Nagao, Kyoko;
- Bean, S. Charles;
- Mora, Sara E.;
- Hopkins, Sarah E.;
- Hobson, Grace M.
Publication type:
Article
PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 20, p. 5464, doi. 10.1093/hmg/ddu271
By:
- Taube, Jennifer R.;
- Sperle, Karen;
- Banser, Linda;
- Seeman, Pavel;
- Cavan, Barbra Charina V.;
- Garbern, James Y.;
- Hobson, Grace M.
Publication type:
Article
Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease.
Published in:
Journal of Child Neurology, 2009, v. 24, n. 5, p. 618, doi. 10.1177/0883073808327833
By:
- Fattal-Valevski, Aviva;
- DiMaio, Miriam S.;
- Hisama, Fuki M.;
- Hobson, Grace M.;
- Davis-Williams, Angelique;
- Garbern, James Y.;
- Mahoney, Maurice J.;
- Kolodny, Edwin H.;
- Pastores, Gregory M.
Publication type:
Article
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication.
Published in:
PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005050
By:
- Beck, Christine R.;
- Carvalho, Claudia M. B.;
- Banser, Linda;
- Gambin, Tomasz;
- Stubbolo, Danielle;
- Yuan, Bo;
- Sperle, Karen;
- McCahan, Suzanne M.;
- Henneke, Marco;
- Seeman, Pavel;
- Garbern, James Y.;
- Hobson, Grace M.;
- Lupski, James R.
Publication type:
Article
Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
Published in:
Human Mutation, 2006, v. 27, n. 1, p. 69, doi. 10.1002/humu.20276
By:
- Hobson, Grace M.;
- Huang, Zhong;
- Sperle, Karen;
- Sistermans, Erik;
- Rogan, Peter K.;
- Garbern, James Y.;
- Kolodny, Edwin;
- Naidu, Sakkubai;
- Cambi, Franca
Publication type:
Article
A new polymorphism in the proteolipid protein ( PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 152, doi. 10.1002/1098-1004(200102)17:2<152::AID-HUMU9>3.0.CO;2-P
By:
- Hobson, Grace M.;
- Stabley, Deborah L.;
- Funanage, Vicky L.;
- Marks, Harold G.
Publication type:
Article
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0676-0
By:
- Bahrambeigi, Vahid;
- Song, Xiaofei;
- Sperle, Karen;
- Beck, Christine R.;
- Hijazi, Hadia;
- Grochowski, Christopher M.;
- Gu, Shen;
- Seeman, Pavel;
- Woodward, Karen J.;
- Carvalho, Claudia M. B.;
- Hobson, Grace M.;
- Lupski, James R.
Publication type:
Article
Gait Abnormalities and Progressive Myelin Degeneration in a New Murine Model of Pelizaeus-Merzbacher Disease with Tandem Genomic Duplication.
Published in:
Journal of Neuroscience, 2013, v. 33, n. 29, p. 11788, doi. 10.1523/JNEUROSCI.1336-13.2013
By:
- Clark, Kristi;
- Sakowski, Lauren;
- Sperle, Karen;
- Banser, Linda;
- Landel, Carlisle P.;
- Bessert, Denise A.;
- Skoff, Robert P.;
- Hobson, Grace M.
Publication type:
Article

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