New spastic paraplegia phenotype associated to mutation of NFU1

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Tonduti, Davide ^a,b   Dorboz, Imen ^a   Imbard, Apolline ^a   Slama, Abdelhamid ^c   Boutron, Audrey ^c   Pichard, Samia ^a   Elmaleh, Monique ^a   Vallée, Louis ^d   Benoist, Jean François ^a   Ogier, Heléne ^a   Boespflug Tanguy, Odile ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b UNIVERSITY OF PAVIA   (Italy)

^c BICÊTRE HOSPITAL   (France)

^d UNIV LILLE   (France)

Author keywords

Irons sulfur clusters; Leukoencephalopathy; NFU1; Spastic paraplegia

Indexed keywords

THIOCTIC ACID; CARRIER PROTEIN; NFU1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; MALE; MEDICAL HISTORY; MISSENSE MUTATION; NFU1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHENOTYPE; PRESCHOOL CHILD; QUADRIPLEGIA; SCOLIOSIS; SENSORIMOTOR NEUROPATHY; SPASTIC PARAPLEGIA; SPINE SURGERY; YOUNG ADULT; GENETICS; METABOLISM; PATHOLOGY;

ADULT; CARRIER PROTEINS; HUMANS; MALE; PARAPARESIS, SPASTIC;

EID: 84924190822     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0237-6     Document Type: Article

References (7)

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