CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability

Authors: Deniz, E., Pasha, M., Guerra, M.E., Viviano, S., Ji, W., Konstantino, M., Jeffries, L., Lakhani, S.A., Medne, L., Skraban, C., Krantz, I., Khokha, M.K.

Source: In Developmental Biology July 2023 499:75-88

P236 Rod-less dystrophin may exert a dominant negative effect by interfering with utrophin's function

Authors: Gorokhova, S., Schessl, J., Zou, Y., Yang, M., Heydemann, P., Sufit, R., Meilleur, K., Donkervoort, S., Medne, L., Finkel, R., Bönnemann, C.

Source: In Neuromuscular Disorders October 2023 33 Supplement 1:S173-S174

CONGENITAL MYOPATHIES 1 – NEMALINE: P.19 ACTA1-related myopathies: expanding the phenotype to include recognizable asymmetries of muscle involvement

Authors: Foley, A., Ferranti, S., Saade, D., Mohassel, P., Donkervoort, S., Medne, L., Dastgir, J., Bharucha-Goebel, D., Meilleur, K., Leach, M., Scavina, M., Yum, S., Tennekoon, G., Bönnemann, C.

Source: In Neuromuscular Disorders October 2020 30 Supplement 1:S53-S53

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Authors: Servián-Morilla, E., Cabrera-Serrano, M., Johnson, K., Pandey, A., Ito, A., Rivas, E., Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K. G., Grewal, R. P., Takeuchi, M., Hao, H., Bönnemann, C., Lopes Abath Neto, O., Medne, L., Brandsema, J., Töpf, A., Taneva, A.

Source: Acta Neuropathologica; Mar2020, Vol. 139 Issue 3, p565-582, 18p

Subject Terms: MYOBLASTS, SATELLITE cells, NOTCH signaling pathway, MUSCULAR dystrophy, DEGENERATION (Pathology), FATTY degeneration

E-POSTERS – EARLY ONSET MUSCLE DISEASE – CASE REPORTS: EP.120ADSSL1 distal myopathy presenting with a more rapid progressive course in patient with trisomy 21

Authors: Medne, L., Santi, M., Skraban, C., Berkowitz, J., Brandsema, J., Dechene, E., Denenberg, E., Bonnemann, C., Santani, A., Banwell, B.

Source: In Neuromuscular Disorders October 2019 29 Supplement 1:S202-S203

P.163Mutations in fast skeletal troponin C (TNNC2) cause contractile dysfunction

Authors: van de Locht, M., de Winter, J., Conijn, S., Ma, W., Helmes, M., Irving, T., Donkervoort, S., Mohassel, P., Medne, L., Quinn, C., Neto, O., Moore, S., Foley, A., Pinto, J., Voermans, N., Bönnemann, C., Ottenheijm, C.

Source: In Neuromuscular Disorders October 2019 29 Supplement 1:S96-S96

O.9Dominant Collagen XII-related myopathy with a distal myopathy phenotype, amenable to treatment with allele-specific knockdown

Authors: Mohassel, P., Liewluck, T., Hu, Y., Ezzo, D., Saade, D., Neuhaus, S., Bolduc, V., Zou, Y., Donkervoort, S., Medne, L., Sumner, C., Dyck, P., Wierenga, K., Finkel, R., Chen, J., Winder, T., Staff, N., Koch, M., Foley, A., Bönnemann, C.

Source: In Neuromuscular Disorders October 2019 29 Supplement 1:S40-S40

This result is not displayed to guests.
Login for full access.

CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.41Dominant TNNC2 mutations cause a distinct congenital myopathy with vocal cord paralysis, ophthalmoplegia and clinical improvement over time

Authors: Donkervoort, S., Mohassel, P., Voermans, N., Quinn, C., van de Locht, M., de Winter, J., Conijn, S., Helmes, M., Medne, L., Lopes Abath Neto, O., Moore, S., Ottenheijm, C., Foley, A.R., Bönnemann, C.

Source: In Neuromuscular Disorders October 2018 28 Supplement 2:S43-S43

NEW GENES, FUNCTIONS AND BIOMARKERS: O.2Mutations in fast skeletal troponin C (TNNC2) cause contractile dysfunction

Authors: van de Locht, M., Winter, J., Conijn, S., Ma, W., Helmes, M., Irving, T., Donkervoort, S., Mohassel, P., Medne, L., Quinn, C., Neto, O., Moore, S., Foley, A.R., Voermans, N., Bönnemann, C., Ottenheijm, C.

Source: In Neuromuscular Disorders October 2018 28 Supplement 2:S30-S30

OD08 - STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia

Authors: Zaharieva, I., Sarkozy, A., Manzur, A., Munot, P., O’Grady, G., Rendu, J., Amthor, H., Servais, L., Malfatti, E., Dixon, J., Poke, G., Donkervoort, S., Foley, A.R., Neto, O.L.A., Davis, M.R., Urtizberea, J.A., Bastaki, L., Romero, N.B., Oates, E.C., Holmes, C., Williams, G., Sframeli, M., Yum, S., Medne, L., Roy, S.Q., Fauré, J., Feng, L., Morgan, J.E., Bönnemann, C.G., Phadke, R., Sewry, C.A., Treves, S., Muntoni, F.

Source: In Neuromuscular Disorders March 2017 27 Supplement 1:S39-S39

G.P.337 - Cardiomyopathy in patients with ACTA1-myopathy

Authors: Donkervoort, S. ^*, Yang, M., Leach, M., Medne, L., Yum, S., Hotchkiss, L., Rutkowski, A., Chatfield, K., Auerbach, S., Miyamoto, S., Bönnemann, C.

Source: In Neuromuscular Disorders October 2015 25 Supplement 2:S287-S287

G.P.296: Severe, early onset Charcot-Marie-Tooth disease with rare presentations

Authors: Yum, S.W., Medne, L., Estilow, T., Glanzman, A., DiVito, D., Bönnemann, C.G.

Source: In Neuromuscular Disorders October 2014 24(9-10):910-911

G.P.239: Expanding phenotype of TRPV4 related neuropathies with notable intrafamilial variability

Authors: Medne, L., Bönnemann, C., Scherer, S., Finkel, R.S., Ortiz-Gonzalez, X., Glanzman, A., Estilow, T., Moll, A., Leshner, R., Wang, Y., Winder, T., Yum, S.

Source: In Neuromuscular Disorders October 2014 24(9-10):888-889

G.P.99 : The Wilmington Robotic Exoskeleton (WREX) improves upper extremity function in patients with Duchenne muscular dystrophy

Authors: Estilow, T., Glanzman, A., Flickinger, J., Powers, K.M., Moll, A., Medne, L., Tennekoon, G., Yum, S.W.

Source: In Neuromuscular Disorders October 2014 24(9-10):824-825

G.P.48: Genotype–phenotype correlations in recessive RYR1-related myopathies

Authors: Amburgey, K., Bailey, A., Hwang, J.H., Tarnopolsky, M.A., Bönnemann, C.G., Medne, L., Mathews, K.D., Collins, J., Daube, J.R., Wellman, G.P., Callaghan, B., Vajsar, J., Yoon, G., Cohn, R., Clarke, N.F., Dowling, J.J.

Source: In Neuromuscular Disorders October 2014 24(9-10):809-809

G.O.2: Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

Authors: Kreissl, M., Sandaradura, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quinlan, K.G., Lehtokari, V., Ravenscroft, G., Todd, E.J., Ceyhan-Birsoy, O., Gokhin, D.S., Maluenda, J., Lek, M., Nolent, F., Pappas, C.T., Novak, S.M., D’Amico, A., Malfatti, E., Thomas, B.P., Gabriel, S.B., Gupta, N., Daly, M.J., Ilkovski, B., Houweling, P.J., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, L., Shannon, P., Flisberg, A., Holmberg, E., den Bergh, P. Van, Lapunzina, P., Waddell, L.B., Sloboda, D.D., Bertini, E., Chitayat, D., Telfer, W.R., Laquerrière, A., Gregorio, C.C., Ottenheijm, C.A.C., Bönnemann, C.G., Pelin, K., Beggs, A.H., Hayashi, Y.K., Romero, N.B., Laing, N.G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V.M., MacArthur, D.G., North, K.N., Clarke, N.F.

Source: In Neuromuscular Disorders October 2014 24(9-10):792-793

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.