✦ LIBER ✦

Macrocephaly, distinct craniofacial appearance and spastic paraplegia: an autosomal recessive subtype of complicated spastic paraplegia

✍ Scribed by J. P. Fryns; M. Hellemans; H. Van den Berghe

Book ID: 115091535
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 316 KB
Volume: 45
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1994.tb04146.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Macrocephaly, distinct craniofacial appe

Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: A new case and expansion of the phenotype

✍ Williams, Marc S. ;Josephson, Kevin D. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 75 KB 👁 2 views

## Abstract An adult female patient is presented with macrocephaly, mental retardation, seizures, spastic paraplegia and distinctive craniofacial appearance. We believe she represents the fourth case of the Fryns macrocephaly, distinct craniofacial appearance and spastic paraplegia syndrome. Cardin

KIF1A missense mutations in SPG30, an au

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

✍ Klebe, Stephan; Lossos, Alexander; Azzedine, Hamid; Mundwiller, Emeline; Sheffer 📂 Article 📅 2012 🏛 Nature Publishing Group 🌐 English ⚖ 341 KB

Association of late onset spastic parapa

Association of late onset spastic paraparesis and dementia: Probably an autosomal dominant form of complicated paraplegia

✍ Lizcano-Gil, Luis Arturo; García-Cruz, Diana; Bernal-Beltrán, María del Pilar; H 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 176 KB 👁 1 views

The hereditary paraplegias are a heterogeneous group of genetic disorders characterized mainly by spastic paraparesis, which may be found as an isolated "pure form" known as Strümpell-Lorrain syndrome, or associated with a wide group of other manifestations [Harding, 1990;McKusick, 1994]. We studied

A new locus (SPG47) maps to 1p13.2–1p12

A new locus (SPG47) maps to 1p13.2–1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

✍ Lubov Blumkin; Tally Lerman-Sagie; Dorit Lev; Keren Yosovich; Esther Leshinsky-S 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 343 KB