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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

• A Poretti, Giuseppina Vitiello, +21 authors Eugen Boltshauser
• Orphanet journal of rare diseases
• 2012

Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual… (More)

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

• Susanne Roosing, Matan Hofree, +42 authors Harry C Dietz
• eLife
• 2015

Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content… (More)

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.

• R Romaniello, Alessandra Tonelli, +5 authors Renato Borgatti
• Developmental medicine and child neurology
• 2012

Neurological disorders characterized by abnormal neuronal migration, organization, axon guidance, and maintenance have recently been associated with missense and splice-site mutations in the genes… (More)

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

• Claudio Zucca, Francesca Redaelli, +15 authors M T Bassi
• Archives of neurology
• 2008

BACKGROUND Sodium channel alpha 1 subunit gene, SCN1A, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (Na(v)1.1) and is mutated in different forms of epilepsy.… (More)

Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature

• Aglaia Vignoli, Renato Borgatti, +15 authors Maria Paola Canevini
• Epilepsia
• 2012

PURPOSE Duplications encompassing the MECP2 gene on the Xq28 region have been described in male patients with moderate to severe mental retardation, absent speech, neonatal hypotonia, progressive… (More)

Mutations in α- and β-tubulin encoding genes: Implications in brain malformations

• R Romaniello, Filippo Arrigoni, M T Bassi, Renato Borgatti
• Brain and Development
• 2015

The tubulin gene family is mainly expressed in post-mitotic neurons during cortical development with a specific spatial and temporal expression pattern. Members of this family encode dimeric proteins… (More)

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

• Alessandra Tonelli, R Romaniello, +5 authors M T Bassi
• Clinical genetics
• 2010

Infantile neuroaxonal dystrophy, INAD, is a severe progressive psychomotor disorder with infantile onset and characterized by the presence of axonal spheroids throughout the central and peripheral… (More)

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

• R Romaniello, Filippo Arrigoni, +5 authors Renato Borgatti
• Developmental medicine and child neurology
• 2014

AIM The aim of this study was to determine the frequency of mutations in tubulin genes (TUBB2B, TUBA1A, and TUBB3) in patients with malformations of cortical development (MCDs) of unknown origin. … (More)

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.

• R Romaniello, Claudio Zucca, +5 authors Renato Borgatti
• Journal of child neurology
• 2014

Mutations in STXBP1 gene, encoding the syntaxin binding protein 1, have been recently described in Ohtahara syndrome, or early infantile epileptic encephalopathy with suppression-burst pattern, and… (More)

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

• R Romaniello, Filippo Arrigoni, +7 authors Renato Borgatti
• Journal of child neurology
• 2013

Mutations in the conserved telomere maintenance component 1 (CTC1) gene were recently described in Coats plus syndrome and in cerebroretinal microangiopathy with calcifications and cysts. Norrie… (More)

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