Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy

Neurology

Volumn 82, Issue 21, 2014, Pages 1919-1926

  Echaniz Laguna, Andoni ^a   Dubourg, Odile ^b   Carlier, Pierre ^c   Carlier, Robert Yves ^d   Sabouraud, Pascal ^e   Péréon, Yann ^f   Chapon, Françoise ^g   Thauvin Robinet, Christel ^h,i   Laforêt, Pascal ^b   Eymard, Bruno ^b   Latour, Philippe ^j   Stojkovic, Tanya ^b  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d RAYMOND POINCARÉ HOSPITAL   (France)

^e REIMS UNIVERSITY HOSPITAL   (France)

^f NANTES UNIVERSITY HOSPITAL   (France)

^g CAEN UNIVERSITY HOSPITAL   (France)

^h UNIVERSITÉ DE BOURGOGNE   (France)

ⁱ DIJON UNIVERSITY HOSPITAL   (France)

^j HOSPICES CIVILS DE LYON   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; VANILLOID RECEPTOR 4;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTHROGRYPOSIS; ARTICLE; ASYMPTOMATIC DISEASE; BONE DYSPLASIA; CHARCOT MARIE TOOTH DISEASE TYPE 2; CLINICAL ARTICLE; CONGENITAL SPINAL MUSCULAR ATROPHY AND ARTHROGRYPOSIS; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DISTAL HEREDITARY MOTOR NEUROPATHY; ELECTROPHYSIOLOGY; EXON; FEMALE; FOOT MALFORMATION; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPINAL MUSCULAR ATROPHY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; KYPHOSCOLIOSIS; MALE; MIDDLE AGED; MISSENSE MUTATION; MOTOR NEUROPATHY; MUTATION RATE; MUTATIONAL ANALYSIS; NERVE CONDUCTION; ONSET AGE; PERIPHERAL NEUROPATHY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RECEPTOR GENE; RESPIRATORY FAILURE; TRPV4 GENE; VOCAL CORD PARALYSIS; WHOLE BODY MRI;

ADOLESCENT; ADULT; AGED; BONE DISEASES; CHILD; FEMALE; FRANCE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MALE; MIDDLE AGED; MUSCLES; MUTATION; PHENOTYPE; TRPV CATION CHANNELS; YOUNG ADULT;

EID: 84902127496     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000450     Document Type: Article

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