Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Brain

Volumn 136, Issue 11, 2013, Pages 3408-3417

  Ricci, Giulia ^a,b   Scionti, Isabella ^b,c   Sera, Francesco ^d   Govi, Monica ^b   D'Amico, Roberto ^b   Frambolli, Ilaria ^b   Mele, Fabiano ^b   Filosto, Massimiliano ^e   Vercelli, Liliana ^f   Ruggiero, Lucia ^g   Berardinelli, Angela ^h   Angelini, Corrado ⁱ   Antonini, Giovanni ^j   Bucci, Elisabetta ^j   Cao, Michelangelo ⁱ   Daolio, Jessica ^b   Di Muzio, Antonio ^k   Di Leo, Rita ^l,m   Galluzzi, Giuliana ⁿ   Iannaccone, Elisabetta ^o   Maggi, Lorenzo ^p   Maruotti, Valerio ^k   Moggio, Maurizio ^q   Mongini, Tiziana ^f   Morandi, Lucia ^p   Nikolic, Ana ^b   Pastorello, Ebe ⁱ   Ricci, Enzo ^o   Rodolico, Carmelo ^l   Santoro, Lucio ^g   Servida, Maura ^q   Siciliano, Gabriele ^a   Tomelleri, Giuliano ^r   Tupler, Rossella ^b,c   more..

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY OF MASSACHUSETTS   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e SPEDALI CIVILI   (Italy)

^f UNIVERSITY OF TURIN   (Italy)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^h C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

ⁱ UNIVERSITY OF PADOVA   (Italy)

^j SAPIENZA UNIVERSITY OF ROME   (Italy)

^k UNIVERSITY OF CHIETI   (Italy)

^l UNIVERSITY OF MESSINA   (Italy)

^m IRCCS SAN CAMILLO HOSPITAL   (Italy)

ⁿ IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^o FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^p DEPARTMENT OF NEUROSURGERY   (Italy)

^q UNIVERSITY OF MILAN   (Italy)

^r UNIVERSITY OF VERONA   (Italy)

more..

Author keywords

D4Z4 reduced allele; Disease expression; Facioscapulohumeral muscular dystrophy; Genotype phenotype correlations; Penetrance

Indexed keywords

ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CONSANGUINITY; DISEASE SEVERITY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FAMILY; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTOR DYSFUNCTION; MUSCLE DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; RISK ASSESSMENT; SEX DIFFERENCE;

EID: 84890521016     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt226     Document Type: Article

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