SOLANGE
KAPETANOVIC GARCÍA
Publications (12) Publications de SOLANGE KAPETANOVIC GARCÍA
2023
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Follow-up regimens for carriers of hereditary transthyretin variants
Medicina Clinica
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Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study
The Lancet Neurology, Vol. 22, Núm. 5, pp. 395-406
2022
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Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus)
Neurologia, Vol. 37, Núm. 3, pp. 216-228
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FXR1 -related congenital myopathy: expansion of the clinical and genetic spectrum
Journal of Medical Genetics, Vol. 59, Núm. 11, pp. 1069-1074
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Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study
European Journal of Neurology, Vol. 29, Núm. 11, pp. 3337-3346
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Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy
European Journal of Neurology, Vol. 29, Núm. 12, pp. 3666-3675
2021
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Thymoma and Autoimmune Encephalitis: Clinical Manifestations and Antibodies
Neurology(R) neuroimmunology & neuroinflammation, Vol. 8, Núm. 5
2020
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Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
Neurologia, Vol. 35, Núm. 3, pp. 185-206
2019
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Akinetic mutism and status epilepticus due to Epstein Barr virus encephalitis
Clinical Neurology and Neurosurgery, Vol. 185
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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
American Journal of Human Genetics, Vol. 105, Núm. 1, pp. 151-165
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Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
Medicina Clinica, Vol. 153, Núm. 2, pp. 82.e1-82.e17
2018
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FSHD type 2 and Bosma arhinia microphthalmia syndrome
Neurology, Vol. 91, Núm. 6, pp. e562-e570