Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study

European Journal of Human Genetics

Volumn 21, Issue 6, 2013, Pages 630-636

  Tiziano, Francesco D ^a   Lomastro, Rosa ^a   Di Pietro, Lorena ^a   Pasanisi, Maria Barbara ^b   Fiori, Stefania ^a   Angelozzi, Carla ^a   Abiusi, Emanuela ^a   Angelini, Corrado ^c   Sorarù, Gianni ^c   Gaiani, Alessandra ^c   Mongini, Tiziana ^d   Vercelli, Liliana ^d   Vasco, Gessica ^a   Vita, Giuseppe ^e   Vita, Gian Luca ^e   Messina, Sonia ^e   Politano, Luisa ^f   Passamano, Luigia ^f   Di Gregorio, Grazia ^f   Montomoli, Cristina ^g   Orsi, Chiara ^g   Campanella, Angela ^b   Mantegazza, Renato ^b   Morandi, Lucia ^b   more..

^a CATHOLIC UNIVERSITY   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d MOLINETTE HOSPITAL   (Italy)

^e UNIVERSITY OF MESSINA   (Italy)

^f SECOND UNIVERSITY OF NAPLES   (Italy)

^g UNIVERSITY OF PAVIA   (Italy)

Author keywords

biomarker; outcome measure; real time PCR; SMN; spinal muscular atrophy

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN; BIOLOGICAL MARKER; MESSENGER RNA; SURVIVAL MOTOR NEURON PROTEIN 2;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; BLOOD; CLINICAL ARTICLE; COPY NUMBER VARIATION; CROSS-SECTIONAL STUDY; DUAL ENERGY X RAY ABSORPTIOMETRY; EXON; FEMALE; FORCED VITAL CAPACITY; GENE LOCUS; GENOTYPE; HAND GRIP; HUMAN; KNEE FUNCTION; LEAN BODY WEIGHT; MALE; MOTOR PERFORMANCE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; ADOLESCENT; BIOMECHANICS; BODY WEIGHT; COHORT ANALYSIS; GENETICS; HEREDITARY SPINAL MUSCULAR ATROPHY; JOINT CHARACTERISTICS AND FUNCTIONS; METABOLISM; MIDDLE AGED; MOTOR ACTIVITY; PATHOPHYSIOLOGY; VITAL CAPACITY;

ADOLESCENT; ADULT; BIOLOGICAL MARKERS; BIOMECHANICS; BODY WEIGHT; COHORT STUDIES; CROSS-SECTIONAL STUDIES; FEMALE; GENETIC LOCI; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOTOR ACTIVITY; RANGE OF MOTION, ARTICULAR; RNA, MESSENGER; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SURVIVAL OF MOTOR NEURON 2 PROTEIN; VITAL CAPACITY; YOUNG ADULT;

EID: 84880961451     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.233     Document Type: Article

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