Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

Human Mutation

Volumn 35, Issue 3, 2014, Pages 298-302

  Fiorillo, Chiara ^a   Moro, Francesca ^a   Yi, Julie ^b   Weil, Sarah ^b   Brisca, Giacomo ^c   Astrea, Guja ^a   Severino, Mariasavina ^c   Romano, Alessandro ^d   Battini, Roberta ^a   Rossi, Andrea ^c   Minetti, Carlo ^c   Bruno, Claudio ^c   Santorelli, Filippo M ^a   Vallee, Richard ^b  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b NewYork Presbyterian Hospital   (United States)

^c G GASLINI INSTITUTE   (Italy)

^d UNIVERSITY OF SALENTO   (Italy)

Author keywords

Abnormal cortical development; Distal SMA; DYNC1H1; SMA LED

Indexed keywords

DYNEIN ADENOSINE TRIPHOSPHATASE; HEAT SHOCK PROTEIN 22; HEAT SHOCK PROTEIN 27; NOCODAZOLE; VANILLOID RECEPTOR 4;

ADULT; ARTICLE; CASE REPORT; CONGENITAL MALFORMATION; CORTICAL DYSPLASIA; DYSPHAGIA; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; ELECTROMYOGRAPHY; EYE MALFORMATION; FIBROBLAST; FOOT MALFORMATION; GENE MUTATION; GOLGI COMPLEX; HEAVY CHAIN; HUMAN; INTELLIGENCE QUOTIENT; LEG MUSCLE; LOCOMOTION; MALE; MICROGYRIA; MILD COGNITIVE IMPAIRMENT; MOTOR NEURON DISEASE; MOTOR NEUROPATHY; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE DENERVATION; MUSCLE INJURY; NERVE CONDUCTION; NERVE DEGENERATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SHOULDER GIRDLE; SKIN FIBROBLAST; SPINAL MUSCULAR ATROPHY; SUCROSE GRADIENT; SYLVIAN FISSURE; TENDON REFLEX; WECHSLER INTELLIGENCE SCALE; YOUNG ADULT;

ABNORMAL CORTICAL DEVELOPMENT; DISTAL SMA; DYNC1H1; SMA-LED;

CHARCOT-MARIE-TOOTH DISEASE; CHILD; CYTOPLASMIC DYNEINS; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION, MISSENSE; PHENOTYPE; PROTEIN CONFORMATION; YOUNG ADULT;

EID: 84893903520     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22491     Document Type: Article

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