Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study von Dermer, E., Spahr, A., Tran, L. T., Mirchi, A., Pelletier, F., Guerrero, K., Ahmed, S., Brais, B., Braverman, N., Buhas, D., Chandratre, S., Chenier, S., Chrestian, N., Desmeules, M., Dilenge, M. E., Laflamme, J., Larbrisseau, A., Legault, G., Lim, K. Y., Maftei, C., Major, P., Malvey-Dorn, E., Marois, P., Mitchell, J., Nadeau, A., Osterman, B., Paradis, I., Pohl, D., Reggin, J., Riou, E., Roedde, G., Rossignol, E., Sébire, G., Shevell, M., Srour, M., Sylvain, M., Tarnopolsky, M., Venkateswaran, S., Sullivan, M., Bernard, G.

Volltext

G.P.47 von Chrestian, N, Dowling, J, Amburgey, K, Moraes, T, Cohn, R, Hawkins, C, Halliday, W, McAdam, L, Biggar, D, Vajsar, J

Volltext

Ataxies, paraparésies spastiques et neuropathies héréditaires fréquentes dans l’Est du Canada von Dupré, N., Chrestian, N., Thiffault, I., Brais, B., Rouleau, G.A., Bouchard, J.-P.

Volltext

VP.06 A new case of congenital myopathy related to TNNC2 von Lace, B., Laflamme, N., Setty, S. Thonta, Rioux, N., Ellezam, B., Rivest, S., Chrestian, N.

Volltext

A new TNNT1 mutation in a non Amish patient with original muscle pathology findings von Chrestian, N., Sylvain, M., Karamchandani, J.

Volltext

P.290 - A new TNNT1 mutation in a non Amish patient with original muscle pathology findings von Chrestian, N., Sylvain, M., Karamchandani, J.

Volltext

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians von ROSSIGNOL, E, MATHIEU, J, THIFFAULT, I, TETREAULT, M, DICAIRE, M.-J, CHRESTIAN, N, DUPRE, N, PUYMIRAT, J, BRAIS, B

Volltext

CONGENITAL MYOPATHIES 1 – NEMALINE von Chrestian, N., Laflamme, N., Labrie, Y., Rioux, N., Dugas, M., Rivest, S., Lace, B.

Volltext

CONGENITAL MYOPATHIES 1 – NEMALINE: P.26 A new intronic mutation in nebulin myopathy von Chrestian, N., Laflamme, N., Labrie, Y., Rioux, N., Dugas, M., Rivest, S., Lace, B.

Volltext

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA: P.60Respiratory dysfunction in childhood myasthenia von Vajsar, J., Katzberg, H., Qashqari, H., Chrestian, N., Narang, I.

Volltext

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA von Vajsar, J., Katzberg, H., Qashqari, H., Chrestian, N., Narang, I.

Volltext

AUTOIMMUNE MYOPATHIES von Chrestian, N., Rioux, N., Proulx-Gauthier, J., Ellezam, B., Labrie, Y., Rivest, S., Lace, B.

Volltext

AUTOIMMUNE MYOPATHIES: P.297 A case of juvenile HMGCR antibody myositis presenting as limb girdle muscular dystrophy von Chrestian, N., Rioux, N., Proulx-Gauthier, J., Ellezam, B., Labrie, Y., Rivest, S., Lace, B.

Volltext

P.097 Adrenal Insufficiency among Children treated with Hormonal Therapy for Infantile Spasms von Doré-Brabant, G, Laflamme, G, Millette, M, Osterman, B, Chrestian, N

Volltext

403P CONNECT1-EDO51: a 12-week open-label Phase 2 study to evaluate PGN-EDO51 safety and efficacy in people with Duchenne amenable to exon 51 skipping von Mellion, M., McMillan, H., Chrestian, N., Gonorazky, H., O'Connell, C., Vacca, S., Peterson, M., Marcos, B., Batra, S., Lonkar, P., Holland, A., Foy, J., Lamore, S., Garg, B., Yu, S., Larkindale, J.

Volltext

P.07 Characterization of MRI brain abnormalities in X-linked myotubular myopathy von Vogt, L., Marefi, A., Amburgey, K., Addour, N., Widjaja, E., Poulin, C., Oskoui, M., McMillan, H., Chrestian, N., Saint-Martin, C., Srour, M., Dowling, J.

Volltext

Muscle hyperthrophy with RYR1 mutation von Chrestian, N., Lace, B., Gould, P., Dionne, A.

Volltext

P.476 - Muscle hyperthrophy with RYR1 mutation von Chrestian, N., Lace, B., Gould, P., Dionne, A.

Volltext

P.131 Outcomes of Nusinersen in adult and pediatric cohorts of spinal muscular amyotrophy after two years of usage at the CHU de Québec-Université Laval von Michel, M, Chrestian, N, Demers, I, Déry, N, Dionne, A, Jobin, C, Lepage, K, Paquin, V, Rodrigue, X

Volltext

Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review von Gagnon, Cynthia, Kierkegaard, Marie, Blackburn, Catherine, Chrestian, Nicolas, Lavoie, Mélissa, Bouchard, Marie‐Frédéric, Mathieu, Jean

Volltext