Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: A clinical, biochemical and genetic study

Neuromuscular Disorders

Volumn 22, Issue 12, 2012, Pages 1075-1082

  Ciccolella, Marianna ^a   Catteruccia, Michela ^a   Benedetti, Sabina ^a   Moroni, Isabella ^b   Uziel, Graziella ^b   Pantaleoni, Chiara ^b   Chiapparini, Luisa ^b   Bizzi, Alberto ^b   D'Amico, Adele ^a   Fattori, Fabiana ^a   Salsano, Maria Letizia ^a   Pastore, Anna ^a   Tozzi, Giulia ^a   Piemonte, Fiorella ^a   Bertini, Enrico ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; IMMUNOGLOBULIN; RIBOFLAVIN; RIBOFLAVIN TRANSPORTER 2; STEROID; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; BROWN VIALETTO VAN LAERE SYNDROME; BULBAR PARALYSIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DRUG TREATMENT FAILURE; EVOKED AUDITORY RESPONSE; FAZIO LONDO SYNDROME; FEMALE; FUNCTIONAL STATUS; GENE; GENETIC ANALYSIS; HEARING IMPAIRMENT; HRFT2 GENE; HUMAN; MALE; MISSENSE MUTATION; MOTOR NEURON DISEASE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; OXIDATION REDUCTION STATE; PRIORITY JOURNAL; RATING SCALE; RELAPSE; SCHOOL CHILD; VITAMIN DEFICIENCY; VITAMIN SUPPLEMENTATION;

ADOLESCENT; BULBAR PALSY, PROGRESSIVE; CHILD; CHILD, PRESCHOOL; DEAFNESS; DISEASE PROGRESSION; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MOTOR NEURONS; MUTATION; RIBOFLAVIN; TREATMENT OUTCOME;

EID: 84870392607     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.05.007     Document Type: Article

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