Renal pathology in a mouse model of severe Spinal Muscular Atrophy is associated with downregulation of Glial Cell-Line Derived Neurotrophic Factor (GDNF)

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

(2018) Ewout J N Groen et al.   HUMAN MOLECULAR GENETICS

Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy

(2018) Gillian K. Maxwell et al.   JOURNAL OF ANATOMY

Neonatal nephron loss during active nephrogenesis – detrimental impact with long-term renal consequences

(2018) Carlos Menendez-Castro et al.   Scientific Reports

Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA)

(2017) Sebastian Rademacher et al.   HUMAN MOLECULAR GENETICS

Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome

(2017) Dominic Cosgrove et al.   MATRIX BIOLOGY

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Developmental Origins and Nephron Endowment in Hypertension

(2017) Shari Gurusinghe et al.   Frontiers in Pediatrics

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

(2016) Eilidh Somers et al.   ANNALS OF NEUROLOGY

Survival of motor neurone protein is required for normal postnatal development of the spleen

(2016) Alison K. Thomson et al.   JOURNAL OF ANATOMY

Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment

(2016) Palittiya Sintusek et al.   PLoS One

Nephrin Preserves Podocyte Viability and Glomerular Structure and Function in Adult Kidneys

(2015) X. Li et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Glial cell line-derived neurotrophic factor: Characterization of mammalian posttranslational modifications

(2012) Elisa Piccinini et al.   ANNALS OF MEDICINE

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

(2012) Julia Schreml et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Spinal muscular atrophy: going beyond the motor neuron

(2012) Gillian Hamilton et al.   TRENDS IN MOLECULAR MEDICINE

Nephron formation adopts a novel spatial topology at cessation of nephrogenesis

(2011) Bree A. Rumballe et al.   DEVELOPMENTAL BIOLOGY

Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy

(2011) E. Somers et al.   NEUROMUSCULAR DISORDERS

Glomerular pathology in Alport syndrome: a molecular perspective

(2011) Dominic Cosgrove   PEDIATRIC NEPHROLOGY

Spinal muscular atrophy type I combined with atrial septal defect in three sibs

(2010) P. Møller et al.   CLINICAL GENETICS

Glomerular number and size variability and risk for kidney disease

(2010) Victor G Puelles et al.   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

(2010) Markus Riessland et al.   HUMAN MOLECULAR GENETICS

Cardiac defects contribute to the pathology of spinal muscular atrophy models

(2010) Monir Shababi et al.   HUMAN MOLECULAR GENETICS

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

(2010) Sabine Rudnik-Schöneborn et al.   MUSCLE & NERVE

Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy

(2009) Alexandra prufer de Queiroz Campos Araujo et al.   JOURNAL OF PEDIATRICS

GUDMAP: The Genitourinary Developmental Molecular Anatomy Project

(2008) A. P. McMahon et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Chronic hypoxia as a mechanism of progression of chronic kidney diseases: from hypothesis to novel therapeutics

(2008) Leon G. Fine et al.   KIDNEY INTERNATIONAL

Nephrin is involved in podocyte maturation but not survival during glomerular development

(2007) S.C. Doné et al.   KIDNEY INTERNATIONAL