Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

Brain

Volumn 137, Issue 11, 2014, Pages 2879-2896

  Peeters, Kristien ^a,b   Chamova, Teodora ^c   Jordanova, Albena ^a,b,c  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

Author keywords

Clinical characteristics; Molecular genetics; SMA

Indexed keywords

ADENOSINE TRIPHOSPHATE; BETA N ACETYLHEXOSAMINIDASE B; CALCIUM; CALCIUM CHANNEL; CERAMIDASE; CYTOPLASMIC DYNEIN; DYNEIN ADENOSINE TRIPHOSPHATASE; EMERIN; LAMIN A; LAMIN C; MESSENGER RNA; MICROTUBULE ASSOCIATED PROTEIN 5; SURVIVAL MOTOR NEURON PROTEIN 1; TRANSIENT RECEPTOR POTENTIAL CHANNEL; VANILLOID RECEPTOR 4;

ANTERIOR HORN CELL DISEASE; ARTHROGRYPOSIS; BABINSKI REFLEX; BONE DYSPLASIA; BULBAR PARALYSIS; CALCIUM CELL LEVEL; CELL FUNCTION; CEREBELLUM HYPOPLASIA; CLINICAL FEATURE; CONTROLLED CLINICAL TRIAL (TOPIC); CPG ISLAND; DISEASE ASSOCIATION; DISEASE COURSE; DNA METHYLATION; ELECTROMYOGRAPHY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HYDROLYSIS; KENNEDY DISEASE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOCLONUS EPILEPSY; NERVE BIOPSY; NERVE CONDUCTION VELOCITY; NEUROLOGIC EXAMINATION; NEXT GENERATION SEQUENCING; NONHUMAN; ONSET AGE; PERCEPTION DEAFNESS; PHENOTYPE; PHYSICAL DISEASE BY BODY FUNCTION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; SENSORY NEUROPATHY; SKELETON MALFORMATION; SPINAL MUSCULAR ATROPHY; STRIDOR; SYNDROME; TENDON REFLEX; WERDNIG HOFFMANN DISEASE; ANIMAL; CLASSIFICATION; GENETICS; PATHOPHYSIOLOGY;

AGE OF ONSET; ANIMALS; HUMANS; MUSCULAR ATROPHY, SPINAL;

EID: 84920906550     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu169     Document Type: Review

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