Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

Neurology

Volumn 80, Issue 5, 2013, Pages 438-446

  Rudnik Schöneborn, Sabine ^a   Senderek, Jan ^a,r   Jen, Joanna C ^b   Houge, Gunnar ^d   Seeman, Pavel ^e   Puchmajerová, Alena ^f   Graul Neumann, Luitgard ^g   Seidel, Ulrich ^g   Korinthenberg, Rudolf ^h   Kirschner, Janbernd ^h   Seeger, Jürgen ⁱ   Ryan, Monique M ^j   Muntoni, Francesco ^k   Steinlin, Maja ^l   Sztriha, Laszlo ^m   Colomer, Jaume ⁿ   Hübner, Christoph ^g   Brockmann, Knut ^o   Van Maldergem, Lionel ^p   Schiff, Manuel ^q   Holzinger, Andreas ^r   Barth, Peter ^s   Reardon, William ^t   Yourshaw, Michael ^b   Nelson, Stanley F ^b,c   Eggermann, Thomas ^a   Zerres, Klaus ^a   more..

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^e CHARLES UNIVERSITY   (Czech Republic)

^f UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h UNIVERSITY OF FREIBURG   (Germany)

ⁱ DEUTSCHE KLINIK FÜR DIAGNOSTIK   (Germany)

^j UNIVERSITY OF MELBOURNE   (Australia)

^k GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^l UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^m UNIVERSITY OF SZEGED   (Hungary)

ⁿ HOSPITAL SANT JOAN DE DÉU   (Spain)

^o UNIVERSITY OF GÖTTINGEN   (Germany)

^p UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^q HÔPITAL ROBERT DEBRÉ   (France)

^r LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^s EMMA CHILDREN S HOSPITAL   (Netherlands)

^t OUR LADY S CHILDREN S HOSPITAL   (Ireland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ANTERIOR HORN CELL; ARTICLE; AUTOPSY; BRAIN MALFORMATION; CHILD; CLINICAL ARTICLE; ELECTROMYOGRAM; ETHNIC GROUP; EXOSC3 GENE; EYE MOVEMENT CONTROL; FEEDING DISORDER; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; HYPOPLASIA; INDEL MUTATION; INFANT; JOINT CONTRACTURE; LIFESPAN; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROIMAGING; NEWBORN DEATH; ONSET AGE; PONTOCEREBELLAR HYPOPLASIA TYPE 1; POSTNATAL HYPOVENTILATION; PRENATAL DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; START CODON;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; EXOSOME MULTIENZYME RIBONUCLEASE COMPLEX; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES; RNA-BINDING PROTEINS; YOUNG ADULT;

EID: 84873671848     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31827f0f66     Document Type: Article

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