title: Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2.
authors.affiliation: Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Fiorillo
authors.affiliation: Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Moro
authors.affiliation: Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Brisca
authors.affiliation: Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Accogli
authors.affiliation: Paediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Trucco
authors.affiliation: Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Trovato
authors.affiliation: Paediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Pedemonte
authors.affiliation: Paediatric Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Severino
authors.affiliation: Fédération de Neurologie, Groupe Hospitalier Pitié-Salpêtrière, and UMR 7622 UPMC and CNRS, Université Pierre et Marie Curie, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Catala
authors.affiliation: Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Capra
authors.affiliation: Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.affiliation: Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.affiliation: Paediatric Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Rossi
authors.affiliation: Paediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Minetti
keywords: cerebellar hypoplasia; distal SMA