Related references
Note: Only part of the references are listed.Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study
Agnes Viguier et al.
NEUROMUSCULAR DISORDERS (2019)
Selective vulnerability in neuronal populations in nmd/SMARD1 mice
Eric Villalon et al.
HUMAN MOLECULAR GENETICS (2018)
A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1
Monir Shababi et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2018)
Clinical diversity caused by novel IGHMBP2 variants
Jun-Hui Yuan et al.
JOURNAL OF HUMAN GENETICS (2017)
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
J. R. Mendell et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
New developments in Charcot-Marie-Tooth neuropathy and related diseases
Davide Pareyson et al.
CURRENT OPINION IN NEUROLOGY (2017)
Adeno-Associated Virus-Based Gene Therapy for CNS Diseases
Michael Hocquemiller et al.
HUMAN GENE THERAPY (2016)
Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent
Monir Shababi et al.
MOLECULAR THERAPY (2016)
Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review
Lidiane Carine Lima Santos Barreto et al.
NEUROEPIDEMIOLOGY (2016)
Pluripotent stem cell-based models of spinal muscular atrophy
Emanuele Frattini et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2015)
Growing up with spinal muscular atrophy with respiratory distress (SMARD1)
Mark James Hamilton et al.
NEUROMUSCULAR DISORDERS (2015)
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2
Justin D. Wagner et al.
NEUROMUSCULAR DISORDERS (2015)
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model
Monica Nizzardo et al.
SCIENCE ADVANCES (2015)
Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2
Ellen Cottenie et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Polyethylene glycol-coupled IGF1 delays motor function defects in a mouse model of spinal muscular atrophy with respiratory distress type 1
Frank Krieger et al.
BRAIN (2014)
Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells
Maria Jedrzejowska et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2014)
iPSC-Derived Neural Stem Cells Act via Kinase Inhibition to Exert Neuroprotective Effects in Spinal Muscular Atrophy with Respiratory Distress Type 1
Chiara Simone et al.
STEM CELL REPORTS (2014)
Catastrophic Autonomic Crisis With Cardiovascular Collapse in Spinal Muscular Atrophy With Respiratory Distress Type 1
Toshihiro Nomura et al.
JOURNAL OF CHILD NEUROLOGY (2013)
Using induced pluripotent stem cells (iPSC) to model human neuromuscular connectivity: promise or reality?
Sophie R. Thomson et al.
JOURNAL OF ANATOMY (2012)
The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1
Siew Choo Lim et al.
NUCLEIC ACIDS RESEARCH (2012)
The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)
Maria Eckart et al.
PEDIATRICS (2012)
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Clare V. Logan et al.
NATURE GENETICS (2011)
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
Kevin D. Foust et al.
NATURE BIOTECHNOLOGY (2010)
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease
Ulf-Peter Guenther et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2009)
Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1)
Stefania Corti et al.
JOURNAL OF NEUROSCIENCE (2009)
Spinal muscular atrophy with respiratory distress type 1 (SMARD1)
Angela M. Kaindl et al.
JOURNAL OF CHILD NEUROLOGY (2008)
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): Defining novel phenotypes through hierarchical cluster analysis
Ulf-Peter Guenther et al.
HUMAN MUTATION (2007)
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1
Alberto Giannini et al.
INTENSIVE CARE MEDICINE (2006)
Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
Kazutoshi Takahashi et al.
CELL (2006)
Recovery of function following grafting of human bone marrow-derived stromal cells into the injured spinal cord
B. Timothy Himes et al.
NEUROREHABILITATION AND NEURAL REPAIR (2006)
Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1
S Corti et al.
HUMAN MOLECULAR GENETICS (2006)
Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) mice
R Ruiz et al.
HUMAN MOLECULAR GENETICS (2005)
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)
K Grohmann et al.
HUMAN MOLECULAR GENETICS (2004)
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
K Grohmann et al.
ANNALS OF NEUROLOGY (2003)
Neural stem cells constitutively secrete neurotrophic factors and promote extensive host axonal growth after spinal cord injury
P Lu et al.
EXPERIMENTAL NEUROLOGY (2003)
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1
M Pitt et al.
BRAIN (2003)
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
K Grohmann et al.
NATURE GENETICS (2001)
Share Paper
