S. Kapetanovic García
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View article: 20651. UTILIDAD DE LA BIOIMPEDANCIA ELÉCTRICA COMO BIOMARCADOR EN LA DISTROFIA MIOTÓNICA TIPO I
20651. UTILIDAD DE LA BIOIMPEDANCIA ELÉCTRICA COMO BIOMARCADOR EN LA DISTROFIA MIOTÓNICA TIPO I Open
View article: 20675. CARACTERÍSTICAS SEROLÓGICAS, HISTOPATOLÓGICAS Y DIFICULTADES TERAPÉUTICAS DE UNA SERIE DE PACIENTES CON MIOPATÍA BRAQUIOCERVICAL INFLAMATORIA (BCIM)
20675. CARACTERÍSTICAS SEROLÓGICAS, HISTOPATOLÓGICAS Y DIFICULTADES TERAPÉUTICAS DE UNA SERIE DE PACIENTES CON MIOPATÍA BRAQUIOCERVICAL INFLAMATORIA (BCIM) Open
View article: 117. POLIMIOSITIS CON FIBRAS COX NEGATIVAS. PRESENTACIÓN DE DOS CASOS Y REVISIÓN DE LA LITERATURA
117. POLIMIOSITIS CON FIBRAS COX NEGATIVAS. PRESENTACIÓN DE DOS CASOS Y REVISIÓN DE LA LITERATURA Open
View article: Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure Open
View article: Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy Open
Background and purpose Mos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was to assess the construct validity and responsiveness of several outcome meas…
View article: Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure Open
DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on patients with a presumed hereditary muscle disease and no genetic diagnosis. This …
View article: Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study
Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study Open
Background and purpose The aim was to assess the safety and efficacy of nusinersen in adult 5q spinal muscular atrophy (SMA) patients. Methods Patients older than 15 years and followed for at least 6 months with one motor scale (Hammersmit…
View article: <i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum
<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum Open
Background Biallelic pathogenic variants in FXR1 have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency and infantile death, and a mild…
View article: Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus)
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus) Open
View article: Consenso Delphi de las recomendaciones para el tratamiento de los pacientes con atrofia muscular espinal en España (consenso RET-AME)
Consenso Delphi de las recomendaciones para el tratamiento de los pacientes con atrofia muscular espinal en España (consenso RET-AME) Open
View article: Nusinersen in adult patients with 5q spinal muscular atrophy: a multicenter observational cohorts’ study
Nusinersen in adult patients with 5q spinal muscular atrophy: a multicenter observational cohorts’ study Open
Objective To assess safety and efficacy of nusinersen in adult 5q spinal muscular atrophy (SMA) patients. Methods Patients older than 15 years and followed at least for 6 months with one motor scale (Hammersmith Functional Motor Scale Expa…
View article: Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy Open
Objective To assess in adult spinal muscular atrophy (SMA) patients the construct validity and responsiveness of several outcome measures. Methods Patients older than 15 years and followed-up at least for 6 months, between October 2015 and…
View article: Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry
Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry Open
View article: Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease Open
View article: Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert
Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert Open
View article: FSHD type 2 and Bosma arhinia microphthalmia syndrome
FSHD type 2 and Bosma arhinia microphthalmia syndrome Open
These data suggest that arhinia/BAMS and FSHD2 do not represent one phenotypic spectrum and that SMCHD1 pathogenic variants by themselves are insufficient to cause either of the 2 disorders. More likely, both arhinia/BAMS and FSHD2 …