Angelini, Corrado
Genetic Neuromuscular Disorders
Part I. Muscular Dystrophies
1. Duchenne Muscular Dystrophy
Corrado Angelini
2. Duchenne Muscular Dystrophy Carrier
Corrado Angelini
3. Becker Muscular Dystrophy
Corrado Angelini
4. Emery-Dreifuss Muscular Dystrophy Type 1
Corrado Angelini
5. Emery-Dreifuss Muscular Dystrophy Type 2
Corrado Angelini
6. Emery-Dreifuss Muscular Dystrophy Type 4
Corrado Angelini
7. Limb-Girdle Muscular Dystrophy Type 1A
Corrado Angelini
8. Limb-Girdle Muscular Dystrophy Type 1B
Corrado Angelini
9. Limb-Girdle Muscular Dystrophy Type 1C
Corrado Angelini
10. Limb-Girdle Muscular Dystrophy Type 1F
Corrado Angelini
11. Limb-Girdle Muscular Dystrophy Type 2A
Corrado Angelini
12. Limb-Girdle Muscular Dystrophy Type 2B
Corrado Angelini
13. Limb-Girdle Muscular Dystrophy Type 2C
Corrado Angelini
14. Limb-Girdle Muscular Dystrophy Type 2D
Corrado Angelini
15. Limb-Girdle Muscular Dystrophy Type 2E
Corrado Angelini
16. Limb-Girdle Muscular Dystrophy Type 2F
Corrado Angelini
17. Limb-Girdle Muscular Dystrophy Type 2H
Corrado Angelini
18. Limb-Girdle Muscular Dystrophy Type 2I
Corrado Angelini
19. Limb-Girdle Muscular Dystrophy Type 2J
Corrado Angelini
20. Limb-Girdle Muscular Dystrophy Type 2K
Corrado Angelini
21. Limb-Girdle Muscular Dystrophy Type 2L
Corrado Angelini
22. Limb-Girdle Muscular Dystrophy Type 2N
Corrado Angelini
23. Limb-Girdle Muscular Dystrophy with Epidermolysis Bullosa Simplex
Corrado Angelini
24. Limb-Girdle Muscular Dystrophy Type 2T
Corrado Angelini
25. Congenital Muscular Dystrophy Type 1A
Corrado Angelini
26. Congenital Muscular Dystrophy Type 1C
Corrado Angelini
27. Fukuyama Congenital Muscular Dystrophy: Walker-Warburg Syndrome
Corrado Angelini
28. Congenital Muscular Dystrophy with Rigid Spine
Corrado Angelini
29. Congenital Muscular Dystrophy with Integrin-Alpha-7 Deficiency
Corrado Angelini
30. Congenital Muscular Dystrophy: Ullrich Disease
Corrado Angelini
31. Bethlem Myopathy
Corrado Angelini
32. Facioscapulohumeral Muscular Dystrophy Type 1A
Corrado Angelini
33. Facioscapulohumeral Muscular Dystrophy Type 2
Corrado Angelini
34. Oculopharyngeal Muscular Dystrophy
Corrado Angelini
35. Scapuloperoneal Myopathy
Corrado Angelini
Part II. Congenital Myopathies
36. Congenital Multiminicore Myopathy
Corrado Angelini
37. Congenital Central Core Myopathy with Malignant Hyperthermia
Corrado Angelini
38. Congenital Centronuclear Myopathy Type 1
Corrado Angelini
39. Congenital Hyaline Body Myopathy
Corrado Angelini
40. Congenital Myotubular Myopathy
Corrado Angelini
41. Congenital Nemaline Myopathy Type 1
Corrado Angelini
42. Congenital Nemaline Myopathy Type 2
Corrado Angelini
43. Congenital Fiber-Type Disproportion Type 1
Corrado Angelini
44. Congenital Fiber-Type Disproportion
Corrado Angelini
45. Congenital Myofibrillar Myopathy Type 1
Corrado Angelini
46. Congenital Myofibrillar Myopathy Type 2
Corrado Angelini
47. Congenital Myofibrillar Myopathy Type 5
Corrado Angelini
48. Congenital Myofibrillar Myopathy Type 6
Corrado Angelini
49. Congenital Tubular Aggregate Myopathy
Corrado Angelini
50. Vacuolar Myopathy with Calsequestrin Aggregates
Corrado Angelini
51. Hereditary Inclusion Body Myopathy Type 2
Corrado Angelini
Part III. Ion Channel Disorders
52. Myotonic Dystrophy Type 1, Steinert Disease
Corrado Angelini
53. Congenital Myotonic Dystrophy
Corrado Angelini
54. Myotonic Dystrophy Type 2, Proximal Myotonic Myopathy
Corrado Angelini
55. Congenital Myotonia, Thomsen Disease
Corrado Angelini
56. Hyperkalemic Periodic Paralysis
Corrado Angelini
57. Hypokalemic Periodic Paralysis Type 1
Corrado Angelini
58. Slow-Channel Congenital Myasthenic Syndrome
Corrado Angelini
59. Congenital Myasthenic Syndrome Type 9
Corrado Angelini
60. Congenital Myasthenic Syndrome
Corrado Angelini
61. Congenital Myasthenic Syndrome Type 11
Corrado Angelini
62. Brody Disease
Corrado Angelini
Part IV. Metabolic Myopathies
63. Glycogenosis Type 2, Pompe Disease
Corrado Angelini
64. Glycogenosis Type 3, Cori-Forbes Disease
Corrado Angelini
65. Glycogenosis Type 4, Andersen Disease
Corrado Angelini
66. Glycogenosis Type 5, McArdle Disease
Corrado Angelini
67. Glycogenosis Type 7, Tarui Disease
Corrado Angelini
68. Danon Disease
Corrado Angelini
69. Polyglucosan Body Myopathy Type 2
Corrado Angelini
70. Kearns-Sayre Syndrome
Corrado Angelini
71. Chronic Progressive External Ophthalmoplegia
Corrado Angelini
72. MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episodes)
Corrado Angelini
73. Leigh Syndrome due to COX Deficiency
Corrado Angelini
74. Mitochondrial Encephalomyopathy with COX Deficiency
Corrado Angelini
75. Mitochondrial Complex I Deficiency due to ACAD9 Deficiency
Corrado Angelini
76. Coenzyme Q10 Deficiency
Corrado Angelini
77. Multiple Symmetric Lipomatosis
Corrado Angelini
78. NARP (Neuropathy, Ataxia, Retinitis Pigmentosa)
Corrado Angelini
79. SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis)
Corrado Angelini
80. Systemic Primary Carnitine Deficiency
Corrado Angelini
81. Neutral Lipid Storage Disease with Ichthyosis, Chanarin-Dorfman Syndrome
Corrado Angelini
82. Neutral Lipid Storage Disease with Myopathy
Corrado Angelini
83. Multiple Acyl-CoA Dehydrogenase Deficiency
Corrado Angelini
84. Carnitine Palmitoyltransferase II Deficiency
Corrado Angelini
85. Niemann-Pick Disease Type C1
Corrado Angelini
Part V. Neurogenic Disorders
86. Spinal Muscular Atrophy Type 1, Werdnig-Hoffmann Disease
Corrado Angelini
87. Spinal Muscular Atrophy Type 2, Werdnig-Hoffmann Disease
Corrado Angelini
88. Spinal Muscular Atrophy Type 3, Kugelberg-Welander Disease
Corrado Angelini
89. Spinal Bulbar Muscular Atrophy, Kennedy Disease
Corrado Angelini
90. Charcot-Marie-Tooth Disease, Type 1A
Corrado Angelini
91. Charcot-Marie-Tooth Disease, Type 1B
Corrado Angelini
92. Charcot-Marie-Tooth Disease, Neuronal Type
Corrado Angelini
93. Charcot-Marie-Tooth Disease, Type 4A
Corrado Angelini
94. Charcot-Marie-Tooth Neuropathy with Pyramidal Features
Corrado Angelini
95. Charcot-Marie-Tooth Disease, Type X1
Corrado Angelini
96. Distal Spinal Muscular Atrophy
Corrado Angelini
97. Hereditary Neuropathy with Pressure Palsies
Corrado Angelini
98. Distal Hereditary Motor Neuropathy Type 2C
Corrado Angelini
99. Friedreich’s Ataxia
Corrado Angelini
100. Spastic Ataxia, Charlevoix-Saguenay Type
Corrado Angelini
101. Ataxia-Telangiectasia, Louis-Bar Syndrome
Corrado Angelini
102. Spastic Paraparesis Type 4
Corrado Angelini
103. Spastic Paraparesis Type 7
Corrado Angelini
104. Optic Atrophy Plus Syndrome
Corrado Angelini
105. Amyotrophic Lateral Sclerosis Type 1
Corrado Angelini
106. Amyotrophic Lateral Sclerosis Type 2, Juvenile
Corrado Angelini
107. Amyotrophic Lateral Sclerosis
Corrado Angelini
Avainsanat: Medicine & Public Health, Neurology
- Tekijä(t)
- Angelini, Corrado
- Julkaisija
- Springer
- Julkaisuvuosi
- 2018
- Kieli
- en
- Painos
- 2nd ed. 2018
- Sivumäärä
- 11 sivua
- Kategoria
- Terveys, kauneus, muoti
- Tiedostomuoto
- E-kirja
- eISBN (PDF)
- 9783319564548
- Painetun ISBN
- 978-3-319-56453-1