IDENTIFICATION OF A NOVEL COMPOUND HETEROZYGOUS MUTATION OF SPG11 IN A PATIENT AFFECTED BY HSPWITH THIN CORPUS CALLOSUM

6533b836fe1ef96bd12a192f

RESEARCH PRODUCT

IDENTIFICATION OF A NOVEL COMPOUND HETEROZYGOUS MUTATION OF SPG11 IN A PATIENT AFFECTED BY HSPWITH THIN CORPUS CALLOSUM

Francesca Valentino Chiara Cupidi Vincenzina Lo Re Tommaso Piccoli F Santorelli

subject

SPG11 CORPUS CALLOSUM Settore MED/26 - Neurologia

year	journal	country	edition	language
2010-01-01

http://hdl.handle.net/10447/72713

PEPhysical Sciences and Engineering
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  - PE2_2 Phenomenology of fundamental interactions
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  - PE2_6Nuclear, hadron and heavy ion physics
  - PE2_8Gas and plasma physics
  - PE2_5Classical and quantum physics of gravitational interactions
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  - PE2_9 Electromagnetism
  - PE2_10Atomic, molecular physics
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  - PE2_14Lasers, ultra-short lasers and laser physics
  - PE2_17Metrology and measurement
  - PE2_16Non-linear physics
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  - PE1_11Theoretical aspects of partial differential equations
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  - PE10_14Earth observations from space/remote sensing
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  - PE11_7Engineering of metal oxides
  - PE11_8Engineering of alternative established or emergent materials
  - PE11_9Nanomaterials engineering, e.g. nanoparticles, nanoporous materials, 1D & 2D nanomaterials
  - PE11_10Soft materials engineering, e.g. gels, foams, colloids
  - PE11_11Porous materials engineering, e.g. covalent-organic, metal-organic, porous aromatic frameworks
  - PE11_12Semi-conducting and magnetic materials engineering
  - PE11_13Metamaterials engineering
  - PE11_14Computational methods for materials engineering
LSLife Sciences
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  - LS1_12Protein design
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  - LS1_9Molecular mechanisms of signalling processes
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  - LS2_1Genetics
  - LS2_3Epigenetics
  - LS2_2Gene editing
  - LS2_4Gene regulation
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  - LS2_6Metagenomics
  - LS2_7Transcriptomics
  - LS2_8Proteomics
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  - LS4_1Organ and tissue physiology and pathophysiology
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  - LS4_2Comparative physiology
  - LS4_5Non-hormonal mechanisms of inter-organ and tissue communication
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  - LS4_7Nutrition and exercise physiology
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  - LS4_11Haematopoiesis and blood diseases
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  - LS4_13Other non-communicable diseases (except disorders of the nervous system and immunity-related diseases)
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SHSocial Sciences and Humanities
- SH2Institutions, Governance and Legal Systems
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  - SH1_4Finance; financial markets
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  - SH1_5Corporate finance; international finance
- SH3The Social World and Its Interactions
  - SH3_1Social structure, social mobility, social innovation
  - SH3_2Inequalities, discrimination, prejudice
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  - SH3_5Social attitudes and beliefs
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- SH4The Human Mind and Its Complexity
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  - SH4_2Personality and social cognition; emotion
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  - SH6_11Global, transnational, and comparative history
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