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Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks
Kamali T, Hagerman KA, Day JW, et al.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference, 2020, 2020, p 1714
RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design
Finkel RS, Day JW, de Vivo DC, et al.
Journal of Neuromuscular Diseases, 2020
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2
Glascock J, Sampson J, Connolly AM, et al.
Journal of Neuromuscular Diseases, 2020
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease
Kishnani PS, Gibson JB, Gambello MJ, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
Revised upper limb module for spinal muscular atrophy: 12 month changes
Pera MC, Coratti G, Mazzone ES, et al.
Muscle & Nerve, 2019, 59, 4, p 426
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A
Tao F, Beecham GW, Rebelo AP, et al.
Annals of neurology, 2019, 85, 3, p 316
Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy
Pacione M, Siskind CE, Day JW, et al.
Journal of Neuromuscular Diseases, 2019, 6, 1, p 119
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
Tao F, Beecham GW, Rebelo AP, et al.
Journal of Neuromuscular Diseases, 2019, 6, 2, p 201
Consensus-based care recommendations for adults with myotonic dystrophy type 1
Ashizawa T, Gagnon C, Groh WJ, et al.
Neurology. Clinical practice, 2018, 8, 6, p 507
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression
Montes J, McDermott MP, Mirek E, et al.
PLoS ONE, 2018, 13, 6
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Diaz-Manera J, Fernández-Torrón R, Llauger J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
Hahn SH, Kronn D, Leslie ND, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2018
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
Moore UR, Jacobs M, Fernández-Torrón R, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 11, p 1224
Evaluator Training and Reliability for SMA Global Nusinersen Trials1
Glanzman AM, Mazzone ES, Young SD, et al.
Journal of Neuromuscular Diseases, 2018, 5, 2, p 159
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
Sellier C, Cerro-Herreros E, Blatter M, et al.
Nature communications, 2018, 9, 1
Humanizing the mdx mouse model of DMD: the long and the short of it
Yucel N, Chang AC, Day JW, et al.
NPJ Regenerative medicine, 2018, 3
Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function
Salazar R, Salazar R, Montes J, et al.
Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association, 2018, 30, 3, p 209
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
Mercuri E, Darras BT, Chiriboga CA, et al.
The New England journal of medicine, 2018, 378, 7, p 625
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
Finkel RS, Chiriboga CA, Vajsar J, et al.
Lancet (London, England), 2016, 388, 10063, p 3017
Precise correction of disease mutations in induced pluripotent stem cells derived from patients with limb girdle muscular dystrophy
Turan S, Farruggio AP, Srifa W, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2016, 24, 4, p 685
Clinical Follow-Up For Duchenne Muscular Dystrophy Newborn Screening: A Proposal
Kwon JM, Abdel-Hamid HZ, Al-Zaidy SA, et al.
Muscle & Nerve, 2016, 54, 2, p 186
Clinical trial readiness in non-ambulatory boys and men with DMD: MDA-DMD network follow-up
Connolly AM, Florence JM, Zaidman CM, et al.
Muscle & Nerve, 2016, 54, 4, p 681
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
Freyermuth F, Rau F, Kokunai Y, et al.
Nature communications, 2016, 7
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Harris E, Bladen CL, Mayhew A, et al.
Neurology. Genetics, 2016, 2, 4
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O, Feely S, Scherer SS, et al.
Brain : a journal of neurology, 2015, epub, p.1-13
