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Author/Creator Nelson, Isabelle

1. A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy. (15th December 2015)

Authors:
De Cid, Rafael; Ben Yaou, Rabah; Roudaut, Carinne; Charton, Karine; Baulande, Sylvain; Leturcq, France; Romero, Norma Beatriz; Malfatti, Edoardo; Beuvin, Maud; Vihola, Anna; Criqui, Audrey; Nelson, Isabelle; Nectoux, Juliette; Ben Aim, Laurène; Caloustian, Christophe; Olaso, Robert; Udd, Bjarne; ...
Journal:
Neurology
Issue:
Volume 85:Number 24(2015)
Page Start:
Record Type:
Journal Article
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2. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. (December 2017)

Authors:
Ben Yaou, Rabah; Hubert, Aurélie; Nelson, Isabelle; Dahlqvist, Julia R.; Gaist, David; Streichenberger, Nathalie; Beuvin, Maud; Krahn, Martin; Petiot, Philippe; Parisot, Frédéric; Michel, Fabrice; Malfatti, Edoardo; Romero, Norma; Carlier, Robert Yves; Eymard, Bruno; Labrune, Philippe; Duno, Mort...
Journal:
Neurology
Issue:
Volume 3:Number 6(2017)
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Record Type:
Journal Article
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3. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?. Issue 1 (1st January 2000)

Authors:
Reardon, William; Smith, Anne; Honour, John W; Hindmarsh, Peter; Das, Debipriya; Rumsby, Gill; Nelson, Isabelle; Malcolm, Sue; Adès, Lesley; Sillence, David; Kumar, Dhavendra; DeLozier-Blanchet, Celia; McKee, Shane; Kelly, Thaddeus; McKeehan, Wallace L; Baraitser, Michael; Winter, Robin M
Journal:
Journal of medical genetics
Issue:
Volume 37:Issue 1(2000)
Page Start:
26
Record Type:
Journal Article
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4. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Issue 2 (18th June 2020)

Authors:
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; Mamc...
Journal:
Annals of neurology
Issue:
Volume 88:Issue 2(2020)
Page Start:
332
Record Type:
Journal Article
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5. Limb girdle muscular dystrophy due to mutations in POMT2. Issue 5 (24th November 2017)

Authors:
Østergaard, Sofie Thurø; Johnson, Katherine; Stojkovic, Tanya; Krag, Thomas; De Ridder, Willem; De Jonghe, Peter; Baets, Jonathan; Claeys, Kristl G; Fernández-Torrón, Roberto; Phillips, Lauren; Topf, Ana; Colomer, Jaume; Nafissi, Shahriar; Jamal-Omidi, Shirin; Bouchet-Seraphin, Celine; Leturcq, F...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 89:Issue 5(2018)
Page Start:
506
Record Type:
Journal Article
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6. Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. Issue 12 (25th October 2018)

Authors:
Ávila-Polo, Rainiero; Malfatti, Edoardo; Lornage, Xavière; Cheraud, Chrystel; Nelson, Isabelle; Nectoux, Juliette; Böhm, Johann; Schneider, Raphaël; Hedberg-Oldfors, Carola; Eymard, Bruno; Monges, Soledad; Lubieniecki, Fabiana; Brochier, Guy; Thao Bui, Mai; Madelaine, Angeline; Labasse, Clémence;...
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 77:Issue 12(2018)
Page Start:
1101
Record Type:
Journal Article
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