Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

Ataxia Telangiectasia Medicine & Life Sciences
Spinal Muscular Atrophy Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Motor Neurons Medicine & Life Sciences
Axons Medicine & Life Sciences
Intermediate Filaments Medicine & Life Sciences
Muscles Medicine & Life Sciences

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Research Output 1984 2017

218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19–21 February 2016

Finkel, R. S. , Sejersen, T. , Mercuri, E. , Bertini, E. , Chen, K. , Crawford, T. O. , Dubowitz, V. , de Lemus, M. , Graham, R. , Hurst Davis, R. , Iannaccone, S. , Kirschner, J. , Main, M. , Mayer, O. , Mazzone, E. , Montes, J. , Muntoni, F. , Murphy, A. , Quijano-Roy, S. , Robertson, A. & 9 others Schroth, M., Simonds, A., Snyder, B., Vitale, M., Wittchen, A., Woods, S., Qian, Y., Wirth, B. & ENMC SMA Workshop Study Group Jun 1 2017 In : Neuromuscular Disorders. 27, 6, p. 596-605 10 p.

Research output: Contribution to journalArticle

Consensus Development Conferences
Standard of Care
Netherlands
Ataxia Telangiectasia
Deglutition
Young Adult
Respiration
Pulmonary Ventilation

Ataxia telangiectasia: A review

Rothblum-Oviatt, C., Wright, J., Lefton-Greif, M. A., McGrath-Morrow, S. A., Crawford, T. O. & Lederman, H. M. Nov 25 2016 In : Orphanet Journal of Rare Diseases. 11, 1, 159

Research output: Contribution to journalReview article

Ataxia Telangiectasia
Mutation
Ataxia Telangiectasia Mutated Proteins
Prenatal Diagnosis
Genes

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR

Stabley, D. L., Holbrook, J., Harris, A. W., Swoboda, K. J., Crawford, T. O., Sol-Church, K. & Butchbach, M. E. R. Nov 30 2016 In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Microsatellite Repeats
Cell Line
Polymerase Chain Reaction
Datasets

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

Duis, J., Dean, S., Applegate, C., Harper, A., Xiao, R., He, W., Dollar, J. D., Sun, L. R., Waberski, M. B., Crawford, T. O., Hamosh, A. & Stafstrom, C. E. 2016 In : Annals of Neurology.

Research output: Contribution to journalArticle

Kinesin
Myoclonus
Phenotype
Mutation
Exome