Keyphrases
Spinal muscular Atrophy
82%
Pompe Disease
75%
Mitochondrial Disease
74%
Mitochondrial DNA
74%
Mitochondrial DNA mutation
63%
Nusinersen
61%
Myopathy
61%
Limb-girdle muscular Dystrophy
54%
Neuromuscular Disease
54%
Late-onset
47%
Novel mutation
45%
Gene mutation
44%
Chronic Progressive External Ophthalmoplegia
44%
Carnitine Palmitoyltransferase II Deficiency
42%
Amyotrophic Lateral Sclerosis
40%
Muscle Biopsy
39%
Adult Patients
36%
Myalgia
34%
Skeletal muscle
32%
Progressive External Ophthalmoplegia
31%
Heteroplasmy
31%
Magnetic Resonance Imaging
30%
Germany
27%
Autosomal Recessive
27%
Multiple Deletions
27%
Autosomal Dominant
25%
Myasthenia Gravis
24%
McArdle Disease
23%
Biallelic
22%
Proton Density Fat Fraction
22%
Thigh muscles
22%
Molecular Genetics
22%
Enzyme Replacement Therapy
22%
Age of Onset
21%
Muscular Dystrophy
21%
Genotype
20%
Autosomal Recessive Inheritance
20%
Hearing Impairment
20%
Compound Heterozygous mutation
20%
Next-generation Sequencing
19%
Clinical Genetics
19%
Metabolic Myopathy
19%
Mitochondrial Encephalomyopathy
18%
Muscle MRI
18%
Disease Severity
18%
Oculopharyngeal muscular Dystrophy
17%
Adult Spinal muscular Atrophy
17%
Single Deletion
17%
Fukutin-related Protein
17%
Point mutation
17%
Biochemistry, Genetics and Molecular Biology
Mitochondrial DNA
100%
Chronic Progressive External Ophthalmoplegia
62%
Enzyme
59%
Molecular Genetics
56%
Mitochondrial Disorder
54%
Genetics
51%
Carnitine Palmitoyltransferase II Deficiency
47%
Mitochondrial Disease
44%
Magnetism
42%
Gene Mutation
40%
Skeletal Muscle
36%
Allele
36%
Electron Transport Chain
32%
Transfer RNA
32%
Exome Sequencing
31%
Genetic Screening
30%
Autosomal Dominant Inheritance
30%
Next Generation Sequencing
29%
Autosomal Recessive Inheritance
29%
Genotyping
28%
Exome
26%
Exon
26%
Glycogen Phosphorylase
22%
Myophosphorylase
22%
Point Mutation
21%
Fibroblast
19%
Outer Mitochondrial Membrane
19%
Fukutin-Related Protein
19%
Creatine Kinase
19%
Heteroplasmy
18%
Mitochondrion
18%
Motor Neuron
16%
Nonsense Mutation
15%
Glucosidase
15%
Liquid
15%
Kinase
15%
Phosphotransferase
15%
Cytochrome C Oxidase
14%
Newborn Screening
14%
Mitochondrial Myopathy
14%
Genetic Heterogeneity
14%
Autosomal Recessive Disorder
13%
Enzyme Activity
12%
Codon
12%
Germline Mosaicism
11%
Rigidity
11%
Cross Sectional Study
11%
Mitochondrial Membrane
11%
Energy Transfer
11%
SMN2
11%
Medicine and Dentistry
Glycogen Storage Disease Type II
81%
Disease
73%
Mitochondrial DNA
72%
Spinal Muscular Atrophy
61%
Chronic Progressive External Ophthalmoplegia
54%
Nusinersen
44%
Myopathy
44%
Neuromuscular Disease
40%
Magnetic Resonance Imaging
39%
Diagnosis
39%
Disorders of Mitochondrial Functions
29%
Skeletal Muscle
29%
Muscle Biopsy
26%
Neuropathy
25%
Limb Girdle Muscular Dystrophy
24%
Enzyme Replacement Therapy
23%
Respiratory Chain
22%
Muscle Weakness
22%
Gene Mutation
20%
Limb
19%
Ataxia
19%
Autosomal Dominant Inheritance
17%
Cross Sectional Study
17%
Thigh
14%
Weakness
13%
Muscle Disease
13%
Glucosidase
13%
Quality of Life
13%
Brain Disease
13%
Paresis
13%
Creatine Kinase
12%
Enzyme Activity
12%
Muscle Tissue
12%
Prevalence
12%
Oculopharyngeal Muscular Dystrophy
11%
Proton Nuclear Magnetic Resonance
11%
Lactic Acidosis
11%
Thoracic Disk Hernia
11%
Status Epilepticus
11%
Abdominal Wall
11%
Alglucosidase Alfa
11%
Congenital Myasthenic Syndrome
11%
Gastrointestinal Distress
10%
Fukutin Related Protein
10%
Genetic Analysis
10%
Clinical Trial
10%
Ptosis
10%
Lumbar Puncture
10%
NMR Spectroscopy
10%
Genetic Disorder
10%
