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Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin α2-related dystrophy.
Published in:
Pediatric Pulmonology, 2017, v. 52, n. 4, p. 524, doi. 10.1002/ppul.23622
By:
- Meilleur, Katherine G.;
- Linton, Melody M.;
- Fontana, Joseph;
- Rutkowski, Anne;
- Elliott, Jeffrey;
- Barton, Mark;
- McGraw, Peter;
- Kokkinis, Angela;
- Donkervoort, Sandra;
- Leach, Meganne;
- Jain, Minal;
- Dastgir, Jahannaz;
- Collins, James;
- Szczesniak, Rhonda;
- Yang, Kelly;
- Sawnani, Hemant;
- Bönnemann, Carsten G.
Publication type:
Article
Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major.
Published in:
2016
By:
- Ayyala, Rama;
- Arnold, Staci;
- Bhatia, Monica;
- Dastgir, Jahannaz;
- Ayyala, Rama S;
- Arnold, Staci D
Publication type:
journal article
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
Published in:
2018
By:
- Nichols, Carmel;
- Jain, Minal S.;
- Meilleur, Katherine G.;
- Wu, Tianxia;
- Collins, James;
- Waite, Melissa R.;
- Dastgir, Jahannaz;
- Salman, Anam;
- Donkervoort, Sandra;
- Duong, Tina;
- Keller, Katherine;
- Leach, Meganne E.;
- Lott, Donovan J.;
- McGuire, Michelle N.;
- Nelson, Leslie;
- Rutkowski, Anne;
- Vuillerot, Carole;
- Bönnemann, Carsten G.;
- Lehky, Tanya J.
Publication type:
journal article
Electrical impedance myography discriminates congenital muscular dystrophy from controls.
Published in:
2016
By:
- Schwartz, Daniel P.;
- Dastgir, Jahannaz;
- Salman, Anam;
- Lear, Barbara;
- Bönnemann, Carsten G.;
- Lehky, Tanya J.
Publication type:
journal article
Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
Published in:
2015
By:
- Marra, Jonathan D;
- Engelstad, Kristin E;
- Ankala, Arunkanth;
- Tanji, Kurenai;
- Dastgir, Jahannaz;
- De Vivo, Darryl C;
- Coffee, Bradford;
- Chiriboga, Claudia A
Publication type:
journal article
Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 ( TNNT1) gene: A case outside of the old order amish.
Published in:
2015
By:
- Marra, Jonathan D.;
- Engelstad, Kristin E.;
- Ankala, Arunkanth;
- Tanji, Kurenai;
- Dastgir, Jahannaz;
- De Vivo, Darryl C.;
- Coffee, Bradford;
- Chiriboga, Claudia A.
Publication type:
Other
Treatment of infantile neuroaxonal dystrophy with RT001: A di‐deuterated ethyl ester of linoleic acid: Report of two cases.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 54, doi. 10.1002/jmd2.12116
By:
- Adams, Darius;
- Midei, Mark;
- Dastgir, Jahannaz;
- Flora, Christina;
- Molinari, Robert J;
- Heerinckx, Frederic;
- Endemann, Sarah;
- Atwal, Paldeep;
- Milner, Peter;
- Shchepinov, Mikhail S.
Publication type:
Article
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
Published in:
JAMA Neurology, 2015, v. 72, n. 6, p. 689, doi. 10.1001/jamaneurol.2015.37
By:
- Zukosky, Kristen;
- Meilleur, Katherine;
- Traynor, Bryan J.;
- Dastgir, Jahannaz;
- Medne, Livija;
- Devoto, Marcella;
- Collins, James;
- Rooney, Jachinta;
- Yaqun Zou;
- Yang, Michele L.;
- Gibbs, J. Raphael;
- Meier, Markus;
- Stetefeld, Joerg;
- Finkel, Richard S.;
- Schessl, Joachim;
- Elman, Lauren;
- Felice, Kevin;
- Ferguson, Toby A.;
- Ceyhan-Birsoy, Ozge;
- Beggs, Alan H.
Publication type:
Article
Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2184, doi. 10.1002/acn3.51450
By:
- Guadagnin, Eleonora;
- Mohassel, Payam;
- Johnson, Kory R.;
- Yang, Lin;
- Santi, Mariarita;
- Uapinyoying, Prech;
- Dastgir, Jahannaz;
- Hu, Ying;
- Dillmann, Allissa;
- Cookson, Mark R.;
- Foley, A. Reghan;
- Bönnemann, Carsten G.
Publication type:
Article
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Published in:
2020
By:
- Foley, A. Reghan;
- Zou, Yaqun;
- Dunford, James E.;
- Rooney, Jachinta;
- Chandra, Goutam;
- Xiong, Hui;
- Straub, Volker;
- Voit, Thomas;
- Romero, Norma;
- Donkervoort, Sandra;
- Hu, Ying;
- Markello, Thomas;
- Horn, Adam;
- Qebibo, Leila;
- Dastgir, Jahannaz;
- Meilleur, Katherine G.;
- Finkel, Richard S.;
- Fan, Yanbin;
- Mamchaoui, Kamel;
- Duguez, Stephanie
Publication type:
journal article
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Published in:
2015
By:
- Donkervoort, Sandra;
- Papadaki, Maria;
- de Winter, Josine M.;
- Neu, Matthew B.;
- Kirschner, Janbernd;
- Bolduc, Véronique;
- Yang, Michele L.;
- Gibbons, Melissa A.;
- Hu, Ying;
- Dastgir, Jahannaz;
- Leach, Meganne E.;
- Rutkowski, Anne;
- Foley, A. Reghan;
- Krüger, Marcus;
- Wartchow, Eric P.;
- McNamara, Elyshia;
- Ong, Royston;
- Nowak, Kristen J.;
- Laing, Nigel G.;
- Clarke, Nigel F.
Publication type:
journal article
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2207, doi. 10.1093/hmg/ddx110
By:
- Yaqun Zou;
- Donkervoort, Sandra;
- Salo, Antti M.;
- Foley, A. Reghan;
- Barnes, Aileen M.;
- Ying Hu;
- Makareeva, Elena;
- Leach, Meganne E.;
- Mohassel, Payam;
- Dastgir, Jahannaz;
- Deardorff, Matthew A.;
- Cohn, Ronald D.;
- DiNonno, Wendy O.;
- Malfait, Fransiska;
- Lek, Monkol;
- Leikin, Sergey;
- Marini, Joan C.;
- Myllyharju, Johanna;
- Bönnemann, Carsten G.
Publication type:
Article
Acute Tumefactive Demyelinating Lesions in a Pediatric Patient With Known Diagnosis of Multiple Sclerosis: Review of the Literature and Treatment Proposal.
Published in:
Journal of Child Neurology, 2009, v. 24, n. 4, p. 431, doi. 10.1177/0883073808324769
By:
- Dastgir, Jahannaz;
- DiMario Jr., Francis J.
Publication type:
Article
Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability.
Published in:
Human Mutation, 2015, v. 36, n. 1, p. 48, doi. 10.1002/humu.22691
By:
- Donkervoort, Sandra;
- Hu, Ying;
- Stojkovic, Tanya;
- Voermans, Nicol C.;
- Foley, A. Reghan;
- Leach, Meganne E.;
- Dastgir, Jahannaz;
- Bolduc, Véronique;
- Cullup, Thomas;
- Becdelièvre, Alix;
- Yang, Lin;
- Su, Hai;
- Meilleur, Katherine;
- Schindler, Alice B.;
- Kamsteeg, Erik‐Jan;
- Richard, Pascale;
- Butterfield, Russell J.;
- Winder, Thomas L.;
- Crawford, Thomas O.;
- Weiss, Robert B.
Publication type:
Article
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin ( MYH7) Distal Myopathy.
Published in:
Human Mutation, 2014, v. 35, n. 7, p. 868, doi. 10.1002/humu.22553
By:
- Lamont, Phillipa J.;
- Wallefeld, William;
- Hilton‐Jones, David;
- Udd, Bjarne;
- Argov, Zohar;
- Barboi, Alexandru C.;
- Bonneman, Carsten;
- Boycott, Kym M.;
- Bushby, Kate;
- Connolly, Anne M.;
- Davies, Nicholas;
- Beggs, Alan H.;
- Cox, Gerald F.;
- Dastgir, Jahannaz;
- DeChene, Elizabeth T.;
- Gooding, Rebecca;
- Jungbluth, Heinz;
- Muelas, Nuria;
- Palmio, Johanna;
- Penttilä, Sini
Publication type:
Article
Position of Glycine Substitutions in the Triple Helix of COL6 A1, COL6 A2, and COL6 A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies.
Published in:
Human Mutation, 2013, v. 34, n. 11, p. 1558, doi. 10.1002/humu.22429
By:
- Butterfield, Russell J.;
- Foley, A. Reghan;
- Dastgir, Jahannaz;
- Asman, Stephanie;
- Dunn, Diane M.;
- Zou, Yaqun;
- Hu, Ying;
- Donkervoort, Sandra;
- Flanigan, Kevin M.;
- Swoboda, Kathryn J.;
- Winder, Thomas L.;
- Weiss, Robert B.;
- Bönnemann, Carsten G.
Publication type:
Article
Common Data Elements for Muscle Biopsy Reporting.
Published in:
Archives of Pathology & Laboratory Medicine, 2016, v. 140, n. 1, p. 51, doi. 10.5858/arpa.2014-0453-OA
By:
- Dastgir, Jahannaz;
- Rutkowski, Anne;
- Alvarez, Rachel;
- Cossette, Stacy A.;
- Ke Yan;
- Hoffmann, Raymond G.;
- Sewry, Caroline;
- Yukiko K. Hayashi;
- Goebel, Hans-Hilmar;
- Bonnemann, Carsten;
- Lawlor, Michael W.
Publication type:
Article

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