Results 31 to 40 of about 4,206 (207)

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge [PDF]

, 2014
BACKGROUND: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data ...
Adzhubey, I., Andorf, J. L., Azaiez, H., Bair, T., Bassuk, A. G., Beggs, A. H., Biskup, S., Black-Ziegelbein, E. A., Booth, K., Bossler, A., Braun, M., Braun, T. A., Brownstein, C. A., Campbell, C. A., Cassa, C. A., Corsmeier, D., Darbro, B., de Bakker, P. I., Dechene, E. T., Deluca, A. P., Deng, M., Duzkale, H., Dworzy Ski, P., Edens, E., Fairbrother, W., Finkel, R. S., Fitzgerald-Butt, S., Flannery, K. C., Francioli, L., Freisinger, P., Funke, B. H., Giovanni, M. A., Gugenmus, C., Hahn, A., Handsaker, R. E., Herman, G., Heusel, J. W., Holm, I. A., Homer, N., Huang, J., Klocke, B., Kolbe, D. L., Kwitek, A., Lage, K., Lamb-Thrush, D., Lebo, M. S., Lek, M., Leshchiner, I., Luquette, L. J., Lyon, E., Macarthur, D. G., Maga, T., Majzoub, J., Mathews, K., McCallie, D., McLaughlin, H. M., Medne, L., Mendelsohn, N. J., Menzel, M., Merriman, B., Meyer, N., Moore, S. A., Murray, M. F., Neupert, P., Panzer, K., Perner, S., Pers, T. H., Polak, P. P., Price, E. N., Raychaudhuri, S., Rehm, H. L., Ryckman, K., Savage, S. K., Scheetz, T. E., Schubach, M., Segal, M. M., Shchelochkov, O. A., Shearer, A. E., Sheffield, V. C., Smith, R. J., Soemedi, R., Sompallae, R., Stitziel, N. O., Stone, E. M., Sunyaev, S. R., Supper, J., Szolovits, P., Temme, R., Towne, M. C., Trapane, P., Tromp, G., Van Daele, D., Vestecka, S., Wang, K., Wassink, T., White, P., Willard, H. F., Williams, M. S., Yu, T. W., Yum, S. W.   +99 more
core   +6 more sources

Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant

American Journal of Perinatology Reports, 2021
Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions.
Gloria Akuamoah-Boateng, Raymond C. Stetson, Bethany D. Kaemingk, David A. Bieber, Jane E. Brumbaugh   +4 more
doaj   +1 more source

Phenotypes of Myopathy-related Actin Mutants in differentiated C2C12 Myotubes [PDF]

, 2007
Background About 20 % of nemaline myopathies are thus far related to skeletal muscle alpha-actin. Seven actin mutants located in different parts of the actin molecule and linked to different forms of the disease were selected and expressed as EGFP-tagged
Bathe Friederike S, Machesky Laura M, Rommelaere Heidi   +2 more
core   +3 more sources

Respiratory treatment in a patient with nemaline myopathy

Clinics and Practice, 2019
Respiratory involvement of nemaline myopathy is evident on the diaphragm and intercostal muscles function. The present case study aimed to describe the characteristics of the respiratory physiotherapeutic treatment in a patient with nemaline myopathy ...
Massimiliano Polastri, Gioacchino Schifino, Eva Tonveronachi, Francesco Tavalazzi   +3 more
doaj   +1 more source

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Molecular Genetics & Genomic Medicine, 2020
Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy.
Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung   +17 more
doaj   +1 more source

Kelch proteins: emerging roles in skeletal muscle development and diseases [PDF]

, 2014
Our understanding of genes that cause skeletal muscle disease has increased tremendously over the past three decades. Advances in approaches to genetics and genomics have aided in the identification of new pathogenic mechanisms in rare genetic disorders ...
Beggs, Alan H, Gupta, Vandana A
core   +1 more source

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

PLoS ONE, 2011
Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease.
Gianina Ravenscroft, Connie Jackaman, Caroline A Sewry, Elyshia McNamara, Sarah E Squire, Allyson C Potter, John Papadimitriou, Lisa M Griffiths, Anthony J Bakker, Kay E Davies, Nigel G Laing, Kristen J Nowak   +11 more
doaj   +1 more source

Sporadic late onset nemaline myopathy with monoclonal gammopathy of undetermined significance: two cases with long term stability

European Journal of Translational Myology, 2020
Monoclonal gammopathy of undetermined significance (MGUS) associated to sporadic late onset nemaline myopathy (SLONM) is a rare and severely disabling condition of quickly progressive limb girdle acquired myopathy.
André Truffert, Ruxandra Iancu Ferfoglia, Johannes Alexander Lobrinus, Kaveh Samii, André Kohler   +4 more
doaj   +1 more source

Congenital myopathies: characteristic and subtypes in Hong Kong [PDF]

, 2015
This journal suppl. entitled: 20th International Congress of The World Muscle SocietyCongenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features.
Chan, AOK, Chan, HSS, Chan, TSK, Cheng, Y, Cherk, SWW, Fung, STH, Ho, RSL, Ip, JJK, Lam, WMW, Lee, CN, Lee, HCH, Liu, KT, Ng, GSF, Shek, WH, Wong, S, Wong, VCN   +15 more
core   +1 more source

A Nemaline Myopathy Presenting with Perinatal Asphyxia

Ankara Üniversitesi Tıp Fakültesi Mecmuası, 2015
Nemaline myopathy is a rare hereditary neuromuscular disease characterized by variable degree of non-progressive or slowly progressive generalized muscle weakness. Clinical features are mostly related with muscle weakness and hypotonia.
Nisa Eda Çullas İlarslan, Dilek Dilli, Nihan Hilal Hoșağası, Beril Talim, Engin Demir, Ayșe Aksoy, Ayșegül Zenciroğlu, Nurullah Okumuș   +7 more
doaj   +1 more source