Neurology of inherited glycosylation disorders
HH Freeze, EA Eklund, BG Ng… - The Lancet Neurology, 2012 - thelancet.com
Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders
known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in …
known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in …
Consensus statement on standard of care for congenital muscular dystrophies
CH Wang, CG Bonnemann… - Journal of child …, 2010 - journals.sagepub.com
Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide
spectrum of clinical phenotypes. Recent advances in understanding the molecular …
spectrum of clinical phenotypes. Recent advances in understanding the molecular …
Skeletal muscle transcriptome in healthy aging
Age-associated changes in gene expression in skeletal muscle of healthy individuals reflect
accumulation of damage and compensatory adaptations to preserve tissue integrity. To …
accumulation of damage and compensatory adaptations to preserve tissue integrity. To …
Human-specific transcriptional networks in the brain
G Konopka, T Friedrich, J Davis-Turak, K Winden… - Neuron, 2012 - cell.com
Understanding human-specific patterns of brain gene expression and regulation can
provide key insights into human brain evolution and speciation. Here, we use next …
provide key insights into human brain evolution and speciation. Here, we use next …
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
T Willer, H Lee, M Lommel, T Yoshida-Moriguchi… - Nature …, 2012 - nature.com
Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy
that is accompanied by a variety of brain and eye malformations. It represents the most …
that is accompanied by a variety of brain and eye malformations. It represents the most …
Treatment of retinitis pigmentosa with human umbilical cord cells
S Mistry, DJ Messina, IR Harris, AM Harmon… - US Patent …, 2008 - Google Patents
US7413734B2 - Treatment of retinitis pigmentosa with human umbilical cord cells - Google
Patents US7413734B2 - Treatment of retinitis pigmentosa with human umbilical cord cells …
Patents US7413734B2 - Treatment of retinitis pigmentosa with human umbilical cord cells …
Postpartum cells isolated from umbilical cord tissue, and methods of making and using the same
S Mistry, AJ Kihm, IR Harris, AM Harmon… - US Patent …, 2009 - Google Patents
5,589,376 A 12/1996 Anderson et a1......... 435/240.2 5,670,483 A* 9/1997 zhang et
31'""""""""" 514/14 Cells derivedfromhumanumbilical cords are disclosedalong 5,677,181 A …
31'""""""""" 514/14 Cells derivedfromhumanumbilical cords are disclosedalong 5,677,181 A …
Congenital muscular dystrophy: from muscle to brain
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that
manifest with very early onset of muscular weakness, sometime associated to severe brain …
manifest with very early onset of muscular weakness, sometime associated to severe brain …
Postpartum cells derived from placental tissue, and methods of making and using the same
AJ Kihm, IR Harris, S Mistry, AM Harmon… - US Patent …, 2017 - Google Patents
Cells derived from postpartum placenta and methods for their isolation are provided by the
invention. The invention further provides cultures and compositions of the placenta-derived …
invention. The invention further provides cultures and compositions of the placenta-derived …
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly
C Fallet-Bianco, A Laquerrière, K Poirier… - Acta neuropathologica …, 2014 - Springer
Complex cortical malformations associated with mutations in tubulin genes are commonly
referred to as “Tubulinopathies”. To further characterize the mutation frequency and …
referred to as “Tubulinopathies”. To further characterize the mutation frequency and …