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 …

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 …

Skeletal muscle transcriptome in healthy aging

RA Tumasian III, A Harish, G Kundu, JH Yang… - Nature …, 2021 - nature.com
Age-associated changes in gene expression in skeletal muscle of healthy individuals reflect
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 …

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 …

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 …

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 …

Congenital muscular dystrophy: from muscle to brain

R Falsaperla, AD Praticò, M Ruggieri, E Parano… - Italian journal of …, 2016 - Springer
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 …

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 …

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 …