Keyword Connections

spinal muscular atrophy

Journals

7

1 human gene therapy

2 Journal of global health

3 Journal of Neurochemistry

4 frontiers in neurology

5 journal of neuromuscular diseases

6 International journal of medical sciences

7 neuromuscular disorders : nmd

Research Groups

0

No Research Group Connected

Bibliographies

21

1 Preimplantation Genetic Testing for Monogenic Disease of Spinal Muscular Atrophy by Multiple Displacement Amplification: 11 unaffected livebirths.

2 Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells.

3 Matching pairs difficulty in children with spinal muscular atrophy type I.

4 Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1.

5 Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen.

6 hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3

7 dominant spinal muscular atrophy is caused by mutations in bicd2, an important golgin protein

8 primary hyperparathyroidism simulating motor neuron disease: case report hiperparatiroidismo primário simulando doença do neurônio motor: relato de caso

9 gemins: potential therapeutic targets for spinal muscular atrophy?

10 self-locomotion and spatial language and spatial cognition: insights from typical and atypical development

11 Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines.

12 Seamless Genetic Conversion of SMN2 to SMN1 via CRISPR/Cpf1 and Single-Stranded Oligodeoxynucleotides in Spinal Muscular Atrophy Patient-Specific Induced Pluripotent Stem Cells.

13 Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting

14 Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy.

15 Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases

16 tratamento cirúrgico da escoliose em pacientes com amiotrofia espinhal com parafusos pediculares (instrumental de 3ª geração) e complicações precoces tratamiento quirúrgico de la escoliosis en pacientes con amiotrofia espinal con tornillos pediculares (instrumental de 3ª generación) y complicaciones precoces surgical treatment of scoliosis in spinal muscular atrophy with pedicle screws (third generation instrumentation) and early complications

17 experiences from treating seven adult 5q spinal muscular atrophy patients with nusinersen

18 increasing agrin function antagonizes muscle atrophy and motor impairment in spinal muscular atrophy

19 spinal muscular atrophy and its molecular genetics

20 neuromuscular junctions as key contributors and therapeutic targets in spinal muscular atrophy

21 Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy