Related references
Note: Only part of the references are listed.Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network
Katarzyna Binieda et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
The InterPro protein families and domains database: 20 years on
Matthias Blum et al.
NUCLEIC ACIDS RESEARCH (2021)
Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1)
Martina G. L. Perego et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2020)
Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights
Matteo Saladini et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2020)
Caenorhabditis elegans ADAR editing and the ERI-6/7/MOV10 RNAi pathway silence endogenous viral elements and LTR retrotransposons
Sylvia E. J. Fischer et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model
Weronika Rzepnikowska et al.
GENES (2020)
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients
Mandy H. Y. Tsang et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
Flavonoids as Potential Drugs for VPS13-Dependent Rare Neurodegenerative Diseases
Piotr Soczewka et al.
GENES (2020)
A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases
Weronika Rzepnikowska et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration
Yoshitomo Yasui et al.
CONGENITAL ANOMALIES (2019)
Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration
Yoshitomo Yasui et al.
CONGENITAL ANOMALIES (2019)
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms
Thomas A. Cassini et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
The EMBL-EBI search and sequence analysis tools APIs in 2019
Fabio Madeira et al.
NUCLEIC ACIDS RESEARCH (2019)
CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of spinal muscular atrophy with respiratory distress type 1
Giulia Forotti et al.
EXPERIMENTAL NEUROLOGY (2019)
Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish
Mo Zhao et al.
HUMAN MOLECULAR GENETICS (2019)
Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd
Monir Shababi et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2019)
Selective vulnerability in neuronal populations in nmd/SMARD1 mice
Eric Villalon et al.
HUMAN MOLECULAR GENETICS (2018)
An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1)
Shuiyan Wu et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2018)
A Completely Reimplemented MPI Bioinformatics Toolkit with a New HHpred Server at its Core
Lukas Zimmermann et al.
JOURNAL OF MOLECULAR BIOLOGY (2018)
Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1)
Verena Surrey et al.
NEUROSCIENCE (2018)
IGHMBP2 mutation associated with organ-specific autonomic dysfunction
Pedro J. Tomaselli et al.
NEUROMUSCULAR DISORDERS (2018)
UPF1-like helicase grip on nucleic acids dictates processivity
Joanne Kanaan et al.
NATURE COMMUNICATIONS (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)
Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case
Richa Kulshrestha et al.
NEUROMUSCULAR DISORDERS (2018)
Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy
Suzie Buono et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Exploring the power of yeast to model aging and age-related neurodegenerative disorders
Ana V. Oliveira et al.
BIOGERONTOLOGY (2017)
Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target
Myungjin Jo et al.
GENOME RESEARCH (2017)
Clinical diversity caused by novel IGHMBP2 variants
Jun-Hui Yuan et al.
JOURNAL OF HUMAN GENETICS (2017)
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients
Lei Liu et al.
NEUROMUSCULAR DISORDERS (2017)
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
Hichem Tasfaout et al.
NATURE COMMUNICATIONS (2017)
Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature
Lokesh Lingappa et al.
ANNALS OF INDIAN ACADEMY OF NEUROLOGY (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)
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Christeen Ramane J. Pedurupillay et al.
NEUROMUSCULAR DISORDERS (2016)
Zebrafish small molecule screens: Taking the phenotypic plunge
Charles H. Williams et al.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (2016)
New Zebrafish Models of Neurodegeneration
Rebeca Martin-Jimenez et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2015)
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1
Fiammetta Vanoli et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2015)
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy
Gudrun Schottmann et al.
NEUROLOGY (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)
One Novel and One Recurrent Mutation in IGHMBP2 Gene, Causing Severe Spinal Muscular Atrophy Respiratory Distress 1 With Onset Soon After Birth
Ivan Litvinenko et al.
JOURNAL OF CHILD NEUROLOGY (2014)
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
Belinda S. Cowling et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis
Russell J. Butterfield et al.
NEUROLOGY (2014)
Early infantile sensory-motor neuropathy with late onset respiratory distress
Astrid Blaschek et al.
NEUROMUSCULAR DISORDERS (2014)
Zebrafish models of human motor neuron diseases: Advantages and limitations
Patrick J. Babin et al.
PROGRESS IN NEUROBIOLOGY (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)
Multiple small RNA pathways regulate the silencing of repeated and foreign genes in C. elegans
Sylvia E. J. Fischer et al.
GENES & DEVELOPMENT (2013)
Catastrophic Autonomic Crisis With Cardiovascular Collapse in Spinal Muscular Atrophy With Respiratory Distress Type 1
Toshihiro Nomura et al.
JOURNAL OF CHILD NEUROLOGY (2013)
Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ
Frank Krieger et al.
NEUROBIOLOGY OF DISEASE (2013)
Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): An atypical phenotype and review of the literature
Maria F. Messina et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2012)
Structural Basis for 5′-End-Specific Recognition of Single-Stranded DNA by the R3H Domain from Human Sμbp-2
Kristaps Jaudzems et al.
JOURNAL OF MOLECULAR BIOLOGY (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)
Novel Chemical Suppressors of Long QT Syndrome Identified by an In Vivo Functional Screen
David S. Peal et al.
CIRCULATION (2011)
Astrocytes from familial and sporadic ALS patients are toxic to motor neurons
Amanda M. Haidet-Phillips et al.
NATURE BIOTECHNOLOGY (2011)
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man
Tyler Mark Pierson et al.
NEUROMUSCULAR DISORDERS (2011)
Noisy Breathing and Hemidiaphragm Paralysis Progressing to Respiratory Failure in an Infant
Julie Baughn et al.
PEDIATRIC PULMONOLOGY (2011)
A yeast-based assay identifies drugs active against human mitochondrial disorders
Elodie Couplan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
The ERI-6/7 Helicase Acts at the First Stage of an siRNA Amplification Pathway That Targets Recent Gene Duplications
Sylvia E. J. Fischer et al.
PLOS GENETICS (2011)
Modeling human diseases in Caenorhabditis elegans
Maria Markaki et al.
BIOTECHNOLOGY JOURNAL (2010)
SF1 and SF2 helicases: family matters
Margaret E. Fairman-Williams et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2010)
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
Yimin Hua et al.
GENES & DEVELOPMENT (2010)
A New Nonsense Mutation of the IGHMBP2 Gene Responsible for the First Case of SMARD1 in a Sardinian Patient with Giant Cell Hepatitis
V. Fanos et al.
NEUROPEDIATRICS (2010)
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)
Ulf-Peter Guenther et al.
HUMAN MOLECULAR GENETICS (2009)
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery
Mariangels de Planell-Saguer et al.
HUMAN MOLECULAR GENETICS (2009)
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)
Interfamilial phenotypic heterogeneity in SMARD1
S. Joseph et al.
NEUROMUSCULAR DISORDERS (2009)
Trans-splicing in C. elegans generates the negative RNAi regulator ERI-6/7
Sylvia E. J. Fischer et al.
NATURE (2008)
C-elegans model identifies genetic modifiers of α-synuclein inclusion formation during aging
Tjakko J. van Ham et al.
PLOS GENETICS (2008)
Astrocytes expressing ALS-linked mutated SOD1 release factors selectively toxic to motor neurons
Makiko Nagai et al.
NATURE NEUROSCIENCE (2007)
Animal models of human disease: zebrafish swim into view
Graham J. Lieschke et al.
NATURE REVIEWS GENETICS (2007)
Mutation of gene in spinal muscular atrophy respiratory distress type I
Virginia C. N. Wong et al.
PEDIATRIC NEUROLOGY (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)
Dilated cardiomyopathy in the nmd mouse:: transgenic rescue and QTLs that improve cardiac function and survival
TP Maddatu et al.
HUMAN MOLECULAR GENETICS (2005)
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)
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
S Rudnik-Schöneborn et al.
NEUROPEDIATRICS (2004)
Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy
TP Maddatu et al.
HUMAN MOLECULAR GENETICS (2004)
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
K Grohmann et al.
ANNALS OF NEUROLOGY (2003)
Neurodegeneration and defective neurotransmission in a Caenorhabditis elegans model of tauopathy
BC Kraemer et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Solution structure of the R3H domain from human Sμbp-2
E Liepinsh et al.
JOURNAL OF MOLECULAR BIOLOGY (2003)
The threshold for polyglutamine-expansion protein aggregation and cellular toxicity is dynamic and influenced by aging in Caenorhabditis elegans
JF Morley et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
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)
The rat ortholog of the presumptive flounder antifreeze enhancer-binding protein is a helicase domain-containing protein
M Miao et al.
EUROPEAN JOURNAL OF BIOCHEMISTRY (2000)
Share Paper
