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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Published in:
2021
By:
- Neto, Osorio Lopes Abath;
- Medne, Livija;
- Donkervoort, Sandra;
- Rodríguez-García, Maria Elena;
- Bolduc, Véronique;
- Hu, Ying;
- Guadagnin, Eleonora;
- Foley, A Reghan;
- Brandsema, John F;
- Glanzman, Allan M;
- Tennekoon, Gihan I;
- Santi, Mariarita;
- Berger, Justin H;
- Megeney, Lynn A;
- Komaki, Hirofumi;
- Inoue, Michio;
- Cotrina-Vinagre, Francisco Javier;
- Hernández-Lain, Aurelio;
- Martin-Hernández, Elena;
- Williams, Linford
Publication type:
journal article
Magnetic Resonance Imaging and Spectroscopy Assessment of Lower Extremity Skeletal Muscles in Boys with Duchenne Muscular Dystrophy: A Multicenter Cross Sectional Study.
Published in:
PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106435
By:
- Forbes, Sean C.;
- Willcocks, Rebecca J.;
- Triplett, William T.;
- Rooney, William D.;
- Lott, Donovan J.;
- Wang, Dah-Jyuu;
- Pollaro, Jim;
- Senesac, Claudia R.;
- Daniels, Michael J.;
- Finkel, Richard S.;
- Russman, Barry S.;
- Byrne, Barry J.;
- Finanger, Erika L.;
- Tennekoon, Gihan I.;
- Walter, Glenn A.;
- Sweeney, H. Lee;
- Vandenborne, Krista
Publication type:
Article
Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy.
Published in:
American Journal of Occupational Therapy, 2018, v. 72, n. 2, p. 1, doi. 10.5014/ajot.2018.022939
By:
- Estilow, Timothy;
- Glanzman, Allan M.;
- Powers, Kacy;
- Moll, Ashley;
- Flickinger, Jean;
- Medne, Līvija;
- Tennekoon, Gihan;
- Yum, Sabrina W.
Publication type:
Article
Walking activity in a large cohort of boys with Duchenne muscular dystrophy.
Published in:
Muscle & Nerve, 2021, v. 63, n. 2, p. 192, doi. 10.1002/mus.27119
By:
- Lott, Donovan J.;
- Taivassalo, Tanja;
- Senesac, Claudia R.;
- Willcocks, Rebecca J.;
- Harrington, Ann M.;
- Zilke, Kirsten;
- Cunkle, Hilary;
- Powers, Catherine;
- Finanger, Erika L.;
- Rooney, William D.;
- Tennekoon, Gihan I.;
- Vandenborne, Krista
Publication type:
Article
Longitudinal timed function tests in Duchenne muscular dystrophy: ImagingDMD cohort natural history.
Published in:
2018
By:
- Arora, Harneet;
- Willcocks, Rebecca J.;
- Lott, Donovan J.;
- Harrington, Ann T.;
- Senesac, Claudia R.;
- Zilke, Kirsten L.;
- Daniels, Michael J.;
- Xu, Dandan;
- Tennekoon, Gihan I.;
- Finanger, Erika L.;
- Russman, Barry S.;
- Finkel, Richard S.;
- Triplett, William T.;
- Byrne, Barry J.;
- Walter, Glenn A.;
- Sweeney, H. Lee;
- Vandenborne, Krista
Publication type:
journal article
Revised upper limb module for spinal muscular atrophy: Development of a new module.
Published in:
2017
By:
- Mazzone, Elena S.;
- Mayhew, Anna;
- Montes, Jacqueline;
- Ramsey, Danielle;
- Fanelli, Lavinia;
- Young, Sally Dunaway;
- Salazar, Rachel;
- De Sanctis, Roberto;
- Pasternak, Amy;
- Glanzman, Allan;
- Coratti, Giorgia;
- Civitello, Matthew;
- Forcina, Nicola;
- Gee, Richard;
- Duong, Tina;
- Pane, Marika;
- Scoto, Mariacristina;
- Pera, Maria Carmela;
- Messina, Sonia;
- Tennekoon, Gihan
Publication type:
journal article
Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy.
Published in:
2016
By:
- Pasternak, Amy;
- Sideridis, Georgios;
- Fragala‐Pinkham, Maria;
- Glanzman, Allan M.;
- Montes, Jacqueline;
- Dunaway, Sally;
- Salazar, Rachel;
- Quigley, Janet;
- Pandya, Shree;
- O'Riley, Susan;
- Greenwood, Jonathan;
- Chiriboga, Claudia;
- Finkel, Richard;
- Tennekoon, Gihan;
- Martens, William B.;
- McDermott, Michael P.;
- Fournier, Heather (Szelag);
- Madabusi, Lavanya;
- Harrington, Timothy;
- Cruz, Rosangel E.
Publication type:
journal article
Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.
Published in:
2015
By:
- Montes, Jacqueline;
- Glanzman, Allan M.;
- Mazzone, Elena S.;
- Martens, William B.;
- Dunaway, Sally;
- Pasternak, Amy;
- Riley, Susan O;
- Quigley, Janet;
- Pandya, Shree;
- De Vivo, Darryl C;
- Kaufmann, Petra;
- Chiriboga, Claudia A.;
- Finkel, Richard S.;
- Tennekoon, Gihan I.;
- Darras, Basil T.;
- Pane, Marika;
- Mercuri, Eugenio;
- Mcdermott, Michael P.
Publication type:
journal article
Notch and Schwann cell transformation.
Published in:
Oncogene, 2004, v. 23, n. 5, p. 1146, doi. 10.1038/sj.onc.1207068
By:
- Ying Song, Stephen;
- Wen, Rong;
- Muir, David;
- Wallace, Peggy;
- van Horne, Samantha J.;
- Tennekoon, Gihan I.;
- Kadesch, Tom;
- Rao, Prakash K.;
- Yiwen Li
Publication type:
Article
Myelin Po-protein, more than just a structural protein?
Published in:
BioEssays, 1992, v. 14, n. 8, p. 541, doi. 10.1002/bies.950140808
By:
- Filbin, Marie T.;
- Tennekoon, Gihan I.
Publication type:
Article
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 389, doi. 10.3233/JND-221560
By:
- Finkel, Richard S.;
- Darras, Basil T.;
- Mendell, Jerry R.;
- Day, John W.;
- Kuntz, Nancy L.;
- Connolly, Anne M.;
- Zaidman, Craig M.;
- Crawford, Thomas O.;
- Butterfield, Russell J.;
- Shieh, Perry B.;
- Tennekoon, Gihan;
- Brandsema, John F.;
- Iannaccone, Susan T.;
- Shoffner, John;
- Kavanagh, Sarah;
- Macek, Thomas A.;
- Tauscher-Wisniewski, Sitra
Publication type:
Article
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 289, doi. 10.3233/JND-210731
By:
- Willcocks, Rebecca J.;
- Barnard, Alison M.;
- Wortman, Ryan J.;
- Senesac, Claudia R.;
- Lott, Donovan J.;
- Harrington, Ann T.;
- Zilke, Kirsten L.;
- Forbes, Sean C.;
- Rooney, William D.;
- Wang, Dah-Jyuu;
- Finanger, Erika L.;
- Tennekoon, Gihan I.;
- Daniels, Michael J.;
- Triplett, William T.;
- Walter, Glenn A.;
- Vandenborne, Krista
Publication type:
Article
Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 423, doi. 10.3233/JND-210746
By:
- Nair, Kavya S.;
- Lott, Donovan J.;
- Forbes, Sean C.;
- Barnard, Alison M.;
- Willcocks, Rebecca J.;
- Senesac, Claudia R.;
- Daniels, Michael J.;
- Harrington, Ann T.;
- Tennekoon, Gihan I.;
- Zilke, Kirsten;
- Finanger, Erika L.;
- Finkel, Richard S.;
- Rooney, William D.;
- Walter, Glenn A.;
- Vandenborne, Krista
Publication type:
Article
Dominant collagen XII mutations cause a distal myopathy.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 1980, doi. 10.1002/acn3.50882
By:
- Mohassel, Payam;
- Liewluck, Teerin;
- Hu, Ying;
- Ezzo, Daniel;
- Ogata, Tracy;
- Saade, Dimah;
- Neuhaus, Sarah;
- Bolduc, Véronique;
- Zou, Yaqun;
- Donkervoort, Sandra;
- Medne, Livija;
- Sumner, Charlotte J.;
- Dyck, P. James B.;
- Wierenga, Klaas J.;
- Tennekoon, Gihan;
- Finkel, Richard S.;
- Chen, Jiani;
- Winder, Thomas L.;
- Staff, Nathan P.;
- Foley, A. Reghan
Publication type:
Article
Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort.
Published in:
2016
By:
- Willcocks, Rebecca J.;
- Rooney, William D.;
- Triplett, William T.;
- Forbes, Sean C.;
- Lott, Donovan J.;
- Senesac, Claudia R.;
- Daniels, Michael J.;
- Wang, Dah‐Jyuu;
- Harrington, Ann T.;
- Tennekoon, Gihan I.;
- Russman, Barry S.;
- Finanger, Erika L.;
- Byrne, Barry J.;
- Finkel, Richard S.;
- Walter, Glenn A.;
- Sweeney, H. Lee;
- Vandenborne, Krista;
- Wang, Dah-Jyuu
Publication type:
journal article
Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy.
Published in:
2014
By:
- Leung, Doris G;
- Herzka, Daniel A;
- Thompson, W Reid;
- He, Bing;
- Bibat, Genila;
- Tennekoon, Gihan;
- Russell, Stuart D;
- Schuleri, Karl H;
- Lardo, Albert C;
- Kass, David A;
- Thompson, Richard E;
- Judge, Daniel P;
- Wagner, Kathryn R
Publication type:
journal article
Sildenafil does not improve cardiomyopathy in Duchenne/ Becker muscular dystrophy.
Published in:
Annals of Neurology, 2014, v. 76, n. 4, p. 541, doi. 10.1002/ana.24214
By:
- Leung, Doris G.;
- Herzka, Daniel A.;
- Thompson, W. Reid;
- He, Bing;
- Bibat, Genila;
- Tennekoon, Gihan;
- Russell, Stuart D.;
- Schuleri, Karl H.;
- Lardo, Albert C.;
- Kass, David A.;
- Thompson, Richard E.;
- Judge, Daniel P.;
- Wagner, Kathryn R.
Publication type:
Article
Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy.
Published in:
Annals of Neurology, 2008, v. 64, n. 5, p. 583, doi. 10.1002/ana.21522
By:
- Pierson, Tyler Mark;
- Bonnemann, Carsten G.;
- Finkel, Richard S.;
- Bunin, Nancy;
- Tennekoon, Gihan I.
Publication type:
Article
Proliferation and differentiation of a transfected schwann cell line is altered by an artificial basement membrane.
Published in:
Glia, 1990, v. 3, n. 5, p. 315, doi. 10.1002/glia.440030502
By:
- Yoshino, Jun E.;
- Neuberger, Timothy J.;
- Cornbrooks, Carson J.;
- Tennekoon, Gihan I.;
- Eng, Larry F.;
- Devries, George H.
Publication type:
Article
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.
Published in:
PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172346
By:
- Ramsey, Danielle;
- Scoto, Mariacristina;
- Mayhew, Anna;
- Main, Marion;
- Mazzone, Elena S.;
- Montes, Jacqueline;
- de Sanctis, Roberto;
- Dunaway Young, Sally;
- Salazar, Rachel;
- Glanzman, Allan M.;
- Pasternak, Amy;
- Quigley, Janet;
- Mirek, Elizabeth;
- Duong, Tina;
- Gee, Richard;
- Civitello, Matthew;
- Tennekoon, Gihan;
- Pane, Marika;
- Pera, Maria Carmela;
- Bushby, Kate
Publication type:
Article
Unanswered Questions in Friedreich Ataxia.
Published in:
Journal of Child Neurology, 2012, v. 27, n. 9, p. 1223, doi. 10.1177/0883073812453498
By:
- Lynch, David R.;
- Deutsch, Eric C.;
- Wilson, Robert B.;
- Tennekoon, Gihan
Publication type:
Article
Progressive Spinal Muscular Atrophies.
Published in:
Journal of Child Neurology, 1999, v. 14, n. 11, p. 691
By:
- Strober, Jonathan B.;
- Tennekoon, Gihan I.
Publication type:
Article
Partial Structure and Mapping of the Human Myelin P2 Protein Gene.
Published in:
Journal of Neurochemistry, 1994, v. 63, n. 6, p. 2010, doi. 10.1046/j.1471-4159.1994.63062010.x
By:
- Narayanan, Vinodh;
- Ripepi, Benedetta;
- Jabs, Ethylin Wang;
- Hawkins, Anita;
- Griffin, Constance;
- Tennekoon, Gihan
Publication type:
Article
Structure of the Mouse Myelin P2 Protein Gene.
Published in:
Journal of Neurochemistry, 1991, v. 57, n. 1, p. 75, doi. 10.1111/j.1471-4159.1991.tb02101.x
By:
- Narayanan, Vinodh;
- Kaestner, Klaus H.;
- Tennekoon, Gihan I.
Publication type:
Article
High Level of Expression of the Myelin Protein P0 in Chinese Hamster Ovary Cells.
Published in:
Journal of Neurochemistry, 1990, v. 55, n. 2, p. 500, doi. 10.1111/j.1471-4159.1990.tb04163.x
By:
- Filbin, Marie T.;
- Tennekoon, Gihan I.
Publication type:
Article
Evidence That Secondary Rat Schwann Cells in Culture Maintain Their Differentiated Phenotype.
Published in:
Journal of Neurochemistry, 1990, v. 54, n. 6, p. 1895, doi. 10.1111/j.1471-4159.1990.tb04888.x
By:
- Rutkowski, Lynn;
- Needham, Leila;
- Frayer, Karen;
- Carson, Daniel;
- McKhann, Guy;
- Tennekoon, Gihan I.
Publication type:
Article
Neurobiology of spinal cord injury.
Published in:
Annals of Neurology, 2001, v. 49, n. 5, p. 688, doi. 10.1002/ana.1046
By:
- Tennekoon, Gihan
Publication type:
Article
Selective culture of mitotically active human Schwann cells from adult sural nerves.
Published in:
Annals of Neurology, 1992, v. 31, n. 6, p. 580, doi. 10.1002/ana.410310603
By:
- Rutkowski, J. Lynn;
- Tennekoon, Gihan I.;
- McGillicuddy, John E.
Publication type:
Article
Immunoreactive myelin basic protein in cerebrospinal fluid of patients with peripheral neuropathies.
Published in:
Annals of Neurology, 1986, v. 20, n. 3, p. 370, doi. 10.1002/ana.410200319
By:
- Cornblath, David R.;
- Griffin, John W.;
- Tennekoon, Gihan I.
Publication type:
Article
Characterization of Insulin-Like Growth Factor-I and Its Receptor and Binding Proteins in Transected Nerves and Cultured Schwann Cells.
Published in:
Journal of Neurochemistry, 1996, v. 66, n. 2, p. 525, doi. 10.1046/j.1471-4159.1996.66020525.x
By:
- Cheng, Hsin-Lin;
- Randolph, Ann;
- Yee, Douglas;
- Delafontaine, Patrick;
- Tennekoon, Gihan;
- Feldman, Eva L.
Publication type:
Article
Skeletal muscle magnetic resonance biomarkers correlate with function and sentinel events in Duchenne muscular dystrophy.
Published in:
PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194283
By:
- Barnard, Alison M.;
- Willcocks, Rebecca J.;
- Finanger, Erika L.;
- Daniels, Michael J.;
- Triplett, William T.;
- Rooney, William D.;
- Lott, Donovan J.;
- Forbes, Sean C.;
- Wang, Dah-Jyuu;
- Senesac, Claudia R.;
- Harrington, Ann T.;
- Finkel, Richard S.;
- Russman, Barry S.;
- Byrne, Barry J.;
- Tennekoon, Gihan I.;
- Walter, Glenn A.;
- Sweeney, H. Lee;
- Vandenborne, Krista
Publication type:
Article

Found: 31

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.

Magnetic Resonance Imaging and Spectroscopy Assessment of Lower Extremity Skeletal Muscles in Boys with Duchenne Muscular Dystrophy: A Multicenter Cross Sectional Study.

Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy.

Walking activity in a large cohort of boys with Duchenne muscular dystrophy.

Longitudinal timed function tests in Duchenne muscular dystrophy: ImagingDMD cohort natural history.

Revised upper limb module for spinal muscular atrophy: Development of a new module.

Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy.

Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.

Notch and Schwann cell transformation.

Myelin Po-protein, more than just a structural protein?

Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).

Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function.

Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance.

Dominant collagen XII mutations cause a distal myopathy.

Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort.

Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy.

Sildenafil does not improve cardiomyopathy in Duchenne/ Becker muscular dystrophy.

Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy.

Proliferation and differentiation of a transfected schwann cell line is altered by an artificial basement membrane.

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

Unanswered Questions in Friedreich Ataxia.

Progressive Spinal Muscular Atrophies.

Partial Structure and Mapping of the Human Myelin P<sub>2</sub> Protein Gene.

Structure of the Mouse Myelin P<sub>2</sub> Protein Gene.

High Level of Expression of the Myelin Protein P<sub>0</sub> in Chinese Hamster Ovary Cells.

Evidence That Secondary Rat Schwann Cells in Culture Maintain Their Differentiated Phenotype.

Neurobiology of spinal cord injury.

Selective culture of mitotically active human Schwann cells from adult sural nerves.

Immunoreactive myelin basic protein in cerebrospinal fluid of patients with peripheral neuropathies.

Characterization of Insulin-Like Growth Factor-I and Its Receptor and Binding Proteins in Transected Nerves and Cultured Schwann Cells.

Skeletal muscle magnetic resonance biomarkers correlate with function and sentinel events in Duchenne muscular dystrophy.