239 results on '"Fabrizi, G. M."'
Search Results
52. Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease
53. Genetic spectrum of hereditary neuropathies with onset in the first year of life
54. Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome
55. Four novel cases of periaxin-related neuropathy and review of the literature
56. Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H
57. Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
58. Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
59. Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene
60. Giant axon and neurofilament accumulation in Charcot–Marie–Tooth disease type 2E
61. A somatic and germline mosaic mutation in MPZ/P 0 mimics recessive inheritance of CMT1B
62. Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome
63. Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family
64. The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.
65. Aggressive treatment of severe acute cerebral venous thrombosis associated with oral contraceptives in young women
66. Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
67. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy and Right-to-Left Shunt: Lack of Evidence for an Association in a Prevalence Study.
68. A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.
69. Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.
70. Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases.
71. Further evidence that mutations in FGD4/frabincause Charcot-Marie-Tooth disease type 4H
72. Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZgene
73. A somatic and germline mosaic mutation in MPZ/P0mimics recessive inheritance of CMT1B
74. Recent Abstracts from Neurology.
75. Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy. A pedigree study by in vivo ^3^1P-MR spectroscopy indicating a multisystem mitochondrial defect
76. A Gene Specifying Subunit VIII of Human Cytochrome cOxidase Is Localized to Chromosome 11 and Is Expressed in Both Muscle and Non-muscle Tissues
77. CUTANEOUS INNERVATION IN DIFFERENT CMT GENOTYPES
78. SENSITIVITY TO CHANGE OF CLINICAL OUTCOME MEASURES IN CHARCOT-MARIE-TOOTH DISEASE
79. THE ITALIAN CMT NATIONAL REGISTRY: TOWARDS DEFINITION OF STANDARDS OF CARE AND CLINICAL TRIALS
80. SKIN BIOPSY IN IDIOPATHIC PURE SUDOMOTOR NEUROPATHY
81. Overwork weakness: is it relevant in Charcot-Marie-Tooth disease?
82. GENOMIC APPROACH FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY
83. CHARCOT-MARIE-TOOTH DISEASE: THE NEUROPHYSIOLOGY MIRRORS THE MORPHOLOGY
84. AN OBSERVATIONAL STUDY ON TAFAMIDIS FOR TRANSTHYRETIN-RELATED FAMILIAL AMYLOID POLYNEUROPATHY IN ITALY
85. CUTANEOUS UNMYELINATED AND MYELINATED ENDINGS IN AXONAL AND DEMYELINATING TYPE CMT
86. CMT1B AND SENSORY ABNORMALITIES ASSOCIATED WITH A MPZ NULL MUTATION
87. Ascorbic acid in charcot-marie-tooth disease type 1A (CMTTRIAAL and CMT-TRAUK): A double-blind randomised trial
88. MONITORING SAFETY AND EFFECTIVENESS OF TAFAMIDIS FOR TRANSTHYRETIN-RELATED FAMILIAL AMYLOID POLYNEUROPATHY IN ITALY: 24-MONTH LONGITUDINAL STUDY
89. CMT2B: HEREDITARY SENSORY-MOTOR NEUROPATHY OR HEREDITARY SENSORY-AUTONOMIC NEUROPATHY?
90. HOW TO DETECT DISEASE PROGRESSION AND TREAMENT EFFECT IN CHARCOT-MARIE-TOOTH DISEASE? RESPONSIVENESS OF CLINICAL OUTCOME MEASURES
91. G8363A mutation in trnalys in mtdna: report of the first italian family
92. RELIABLE OUTCOME MEASURES FOR CHARCOT-MARIE-TOOTH DISEASE: THE SENSITIVITY TO CHANGES OF 6-MINUTE WALK TEST AND STEPWATCH (TM) ACTIVITY MONITOR IN A 12-MONTH FOLLOW-UP STUDY
93. GENETIC VARIABILITY OF EARLY-ONSET DEMYELINATING NEUROPATHY
94. A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY
95. TREADMILL, STRETCHING AND PROPRIOCEPTIVE (TRESPE) REHABILITATION PROGRAM IN CMT1A: THE ROLE OF 6-MWT IN THE EVALUATION OF PATIENTS AT BASELINE
96. The strategy of investigating autistic syndromes in childhood
97. A Gene Specifying Subunit VIII of Human Cytochrome c Oxidase Is Localized to Chromosome 11 and Is Expressed in Both Muscle and Non-muscle Tissues
98. Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities
99. Multiple sclerosis associated with duplicated CMT1A: a report of two cases.
100. Correction: Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
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