نتائج البحث

Spinal muscular atrophy carrier frequency in Saudi Arabia.

• Authors : Al Jumah, Mohammed^1,2 (AUTHOR) ; Al Rajeh, Saad³ (AUTHOR); Eyaid, Wafaa⁴ (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Nov2022, Vol. 10 Issue 11, p1-8. 8p.

تفاصيل العنوان

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait

• Authors : Asma AlTawari; Mohammad Zakaria; Walaa Kamel

Subjects: spinal muscular atrophy; neuromuscular disease; nusinersen

• Source: Neurology International, Vol 16, Iss 3, Pp 631-642 (2024)

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Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes

• Authors : Diou Luo; Eric W. Ottesen; Ji Heon Lee

Subjects: Spinal muscular atrophy, SMA; Survival Motor Neuron, SMN; Circular RNA, circRNA

• Source: Scientific Reports, Vol 14, Iss 1, Pp 1-17 (2024)

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RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

• Authors : Maria Grazia Cattinari; Mencía de Lemus; Eduardo Tizzano

Subjects: RegistrAME; Spinal muscular atrophy; Patient registry

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

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Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

• Authors : Emmanuelle Salort-Campana; Guilhem Solé; Armelle Magot

Subjects: Spinal muscular atrophy; SMA; Multidisciplinary team meeting

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

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Telenutrition Support in Rare Diseases May Have Positive Effects: Spinal Muscular Atrophy Type 2 Case Report

• Authors : Mücahit Muslu

Subjects: rare diseases; spinal muscular atrophy; nutrition

• Source: Düzce Tıp Fakültesi Dergisi, Vol 25, Iss 3, Pp 293-296 (2023)

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Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study

• Authors : Zhen Wang; Erwei Feng; Yang Jiao

Subjects: Spinal muscular atrophy; Scoliosis; Posterior spinal fusion

• Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)

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Trends in incidence, prevalence, and mortality of neuromuscular disease in Ontario, Canada: A population-based retrospective cohort study (2003-2014).

• Authors : Rose, Louise^1,2,3,4 ; McKim, Douglas^5,6; Leasa, David^7,8

Subjects: *DISEASE incidence; *NEUROMUSCULAR diseases; *COHORT analysisONTARIO; CANADA; NORTH America

• Source: PLoS ONE. 3/26/2019, Vol. 14 Issue 3, p1-12. 12p.

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Pathogenetic therapy of spinal muscular atrophy in the clinical practice of a pediatrician in Penza region

• Authors : L.A. Musatova; L.I. Krasnova; O.A. Ponyatova

Subjects: children; orphan diseases; spinal muscular atrophy (sma)

• Source: Известия высших учебных заведений. Поволжский регион: Медицинские науки, Iss 4 (2024)

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Spinal muscular atrophy type 1: A fatal case in a 1‐year‐old girl with delayed diagnosis

• Authors : Saira Batool Rizvi; Hafsa Ahmed; Arbaz Zaman

Subjects: delayed diagnosis; infant mortality; SMA Type 1

• Source: Clinical Case Reports, Vol 12, Iss 2, Pp n/a-n/a (2024)

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