Markus Schuelke

Markus Schuelke's AcademicInfluence.com Rankings

Markus Schuelke

Physics

#6299

World Rank

#8227

Historical Rank

physics Degrees

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Physics

Markus Schuelke's Degrees

PhD Physics University of California, Berkeley
Masters Physics University of California, Berkeley
Bachelors Physics University of California, Berkeley

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Markus Schuelke's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

An economic method for the fluorescent labeling of PCR fragments (2000) (3441)
MutationTaster2: mutation prediction for the deep-sequencing age (2014) (2899)
MutationTaster evaluates disease-causing potential of sequence alterations (2010) (2661)
Myostatin mutation associated with gross muscle hypertrophy in a child. (2004) (1069)
Lack of myostatin results in excessive muscle growth but impaired force generation (2007) (372)
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. (2006) (364)
HomozygosityMapper—an interactive approach to homozygosity mapping (2009) (350)
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 (2001) (311)
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy (1999) (266)
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. (2004) (262)
Variants in CPA1 are strongly associated with early onset chronic pancreatitis (2013) (244)
Mutations in PYCR1 cause cutis laxa with progeroid features (2009) (228)
Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations (2010) (211)
The spectrum of WRN mutations in Werner syndrome patients (2006) (202)
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation (2006) (191)
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing (2012) (180)
Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria. (2011) (157)
Identification of small non-coding RNAs from mitochondria and chloroplasts (2006) (155)
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency (2008) (154)
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. (1998) (150)
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency (2010) (140)
Systematic Comparison of Three Methods for Fragmentation of Long-Range PCR Products for Next Generation Sequencing (2011) (122)
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) (2003) (118)
GeneDistiller—Distilling Candidate Genes from Linkage Intervals (2008) (118)
Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders. (2017) (111)
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia (2014) (111)
Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects (2010) (108)
Dynamics of myosin degradation in intensive care unit-acquired weakness during severe critical illness (2014) (106)
Synaptic PRG-1 Modulates Excitatory Transmission via Lipid Phosphate-Mediated Signaling (2009) (103)
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). (2009) (91)
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) (2011) (89)
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement (2015) (86)
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies (2015) (81)
Septo‐optic dysplasia associated with a new mitochondrial cytochrome b mutation (2002) (77)
Blockade of ActRIIB signaling triggers muscle fatigability and metabolic myopathy. (2014) (73)
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. (2014) (72)
Myostatin is a key mediator between energy metabolism and endurance capacity of skeletal muscle. (2014) (69)
Urinary α-tocopherol metabolites in α-tocopherol transfer protein-deficient patients (2000) (69)
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis (2007) (68)
HomozygosityMapper2012—bridging the gap between homozygosity mapping and deep sequencing (2012) (66)
NOA1 is an essential GTPase required for mitochondrial protein synthesis (2011) (66)
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum (2014) (65)
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. (2013) (65)
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. (1999) (64)
The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1) (2012) (62)
Comparative analysis of uncoupling protein 4 distribution in various tissues under physiological conditions and during development. (2009) (61)
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction (2013) (59)
Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1) (2004) (56)
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy (2000) (55)
Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNASer(UCN) mutation (1998) (55)
CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome (2016) (54)
Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate (2006) (53)
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy (2018) (53)
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway (2016) (52)
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? (2018) (50)
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy (2018) (50)
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability (2014) (48)
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. (2017) (48)
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 (2008) (48)
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. (2016) (47)
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima (2016) (44)
International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy (2017) (44)
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness (2017) (44)
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations (2017) (43)
Localization of α-Tocopherol Transfer Protein in Trophoblast, Fetal Capillaries' Endothelium and Amnion Epithelium of Human Term Placenta (2004) (43)
MutationTaster2021 (2021) (42)
Potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease (2014) (42)
Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1 (2004) (40)
Transparent Danionella translucida as a genetically tractable vertebrate brain model (2018) (40)
Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1) (2016) (39)
Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice. (2012) (39)
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome (2021) (39)
MutationDistiller: user-driven identification of pathogenic DNA variants (2019) (38)
Increased mRNA expression of tissue inhibitors of metalloproteinase-1 and -2 in Duchenne muscular dystrophy (2005) (38)
Recurrent Stroke Due to a Novel Voltage Sensor Mutation in Cav2.1 Responds to Verapamil (2011) (37)
Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy (2016) (36)
BMP signaling regulates satellite cell-dependent postnatal muscle growth (2017) (33)
Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation. (1998) (32)
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination (2019) (32)
MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis. (2016) (31)
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency (1999) (31)
Muscle 3243A→G mutation load and capacity of the mitochondrial energy‐generating system (2008) (30)
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X) (2009) (29)
Synaptic PRG-1 Modulates Excitatory Transmission via Lipid Phosphate-Mediated Signaling (2011) (28)
Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7 (2019) (28)
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. (2019) (27)
Region-Specific Expression of Mitochondrial Complex I Genes during Murine Brain Development (2011) (27)
Analysis of Mitochondrial DNA in Discordant Monozygotic Twins With Neurofibromatosis Type 1 (2007) (27)
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption. (2005) (26)
Muscle and nerve pathology in Dunnigan familial partial lipodystrophy (2007) (25)
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood (2016) (25)
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene (2016) (25)
Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients. (2000) (25)
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy (2015) (24)
Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta. (2004) (24)
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy (2015) (23)
A two‐dimensional electrophoretic map of human mitochondrial proteins from immortalized lymphoblastoid cell lines: A prerequisite to study mitochondrial disorders in patients (2005) (23)
Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome) (2010) (23)
MutationTaster 2021 (2021) (22)
Identification of Targets and Interaction Partners of Arginyl-tRNA Protein Transferase in the Moss Physcomitrella patens* (2016) (21)
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction (2001) (21)
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. (2017) (20)
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy (2015) (19)
Hybrid genome assembly and annotation of Danionella translucida (2019) (18)
New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods. (2002) (18)
PORTEVIN-LeCHATELIER EFFECT AND OBSERVATION OF SLIP BAND GROWTH IN Cu-Al SINGLE CRYSTALS (1989) (17)
CARbon DIoxide for the treatment of Febrile seizures: rationale, feasibility, and design of the CARDIF-study (2013) (16)
Morvan syndrome associated with CASPR2 and LGI1 antibodies in a child (2017) (16)
A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy (2014) (16)
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus. (2015) (16)
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing (2007) (16)
Myopathology in the times of modern genetics (2017) (16)
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants (2019) (15)
Diffusivity, permeability and solubility of H2, Ar, N2, and CO2 in poly(tetrafluoroethylene) between room temperature and 180 °C (2016) (14)
Complement deposition at the neuromuscular junction in seronegative myasthenia gravis (2020) (14)
De Novo Mutations in SLC 25 A 24 Cause a Craniosynostosis Syndrome with Hypertrichosis , Progeroid Appearance , and Mitochondrial Dysfunction (13)
Improved glucose metabolism in mice lacking α-tocopherol transfer protein (2007) (13)
Ataxia with vitamin E deficiency: Biochemical effects of malcompliance with vitamin E therapy (2000) (13)
Infant Botulism: Is There an Association With Thiamine Deficiency? (2014) (13)
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects (2016) (13)
De novo double mutation in PAX6 and mtDNA tRNALys associated with atypical aniridia and mitochondrial disease (2007) (12)
Characterization of a DmdEGFP reporter mouse as a tool to investigate dystrophin expression (2016) (11)
SURF1 mutations causative of Leigh syndrome impair human neurogenesis (2019) (11)
Defining the ATPome reveals cross-optimization of metabolic pathways (2020) (11)
Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation (2008) (10)
A systematic, large-scale comparison of transcription factor binding site models (2016) (10)
Quantitative and qualitative 2D electrophoretic analysis of differentially expressed mitochondrial proteins from five mouse organs (2013) (10)
A novel mutation L1425p in the GAP‐region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE); (1999) (10)
Erratum to: A systematic, large-scale comparison of transcription factor binding site models (2016) (9)
Autophagic vacuolar myopathy is a common feature of CLN3 disease (2018) (9)
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome (2019) (9)
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels (2017) (9)
New evidence for a mutation hotspot in exon 37 of the NF1 gene. (1997) (9)
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome. (2021) (8)
Influence of surface contaminations on the hydrogen storage behaviour of metal hydride alloys (2008) (8)
Extracellular matrix remodelling is associated with muscle force increase in overloaded mouse plantaris muscle (2020) (7)
Caveolin 1 Promotes Renal Water and Salt Reabsorption (2018) (7)
Motor function in survivors of pediatric acute lymphoblastic leukemia treated with chemotherapy-only. (2019) (7)
Improved glucose metabolism in mice lacking alpha-tocopherol transfer protein. (2007) (7)
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. (2019) (7)
Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies. (2020) (7)
Ataxia with vitamin E deficiency (2016) (6)
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum (2021) (6)
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities (2007) (6)
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2 (2021) (5)
Characterization of a DmdEGFP reporter mouse as a tool to investigate dystrophin expression (2016) (5)
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease (2015) (5)
Identifying Dynamic Membrane Structures with Atomic-Force Microscopy and Confocal Imaging (2014) (5)
Met and Cxcr4 cooperate to protect skeletal muscle stem cells against inflammation-induced damage during regeneration (2021) (5)
Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion. (2004) (5)
A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism. (2020) (5)
Degenerative changes in unmyelinated nerve fibers in late-infantile neuronal ceroidlipofuscinosis (1998) (5)
Phenotero: annotate as you write (2018) (4)
Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages (2020) (4)
Live‐imaging of revertant and therapeutically restored dystrophin in the DmdEGFP‐mdx mouse model for Duchenne muscular dystrophy (2020) (4)
New evidence for a mutation hotspot in exon 37 of the NF1 gene (1997) (4)
Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C) (2017) (4)
[Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)]. (2008) (4)
A spontaneous missense mutation in the chromodomain helicase DNA‐binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome (2020) (3)
Genetic deafness in a preterm infant with a critical postnatal course (2006) (3)
Corrigendum to “Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate” [FEBS Lett. 580 (2006) 455–462] (2007) (3)
Complex surface analytical investigations on hydrogen absorption and desorption processes of a TiMn2-based alloy (2009) (3)
What can go wrong in the non-coding genome and how to interpret whole genome sequencing data (2021) (3)
Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease (2022) (3)
Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients (1999) (3)
Morphologic and Molecular Patterns of Polymyositis With Mitochondrial Pathology and Inclusion Body Myositis (2022) (3)
CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts (2013) (3)
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation (2020) (2)
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa (2020) (2)
Erratum to: A systematic, large-scale comparison of transcription factor binding site models (2016) (2)
Atypical NMDA receptor expression in a diffuse astrocytoma, MYB- or MYBL1-altered as a trigger for autoimmune encephalitis (2022) (2)
What is the Role of Thyroid Hormone Receptor Alpha 2 (TRα2) in Human Physiology? (2022) (2)
Cytoplasmic body myopathy revisited (2018) (2)
Applied surface analysis (2013) (2)
Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease (2019) (2)
A new mutation of IGHMBP2 gene. (2006) (2)
Cavin 1 function does not follow caveolar morphology. (2015) (2)
Publisher Correction: Transparent Danionella translucida as a genetically tractable vertebrate brain model (2018) (2)
T.P.3.08 Clinical trial of epigallocatechin-3-gallate in Duchenne muscular dystrophy (2009) (2)
NG.O.13 Recessive mutation in EXOSC9 disrupts the exosome complex resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy (2017) (2)
Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes (2021) (2)
Prenatal manifestation of pancytopenia in Pearson marrow‐pancreas syndrome caused by a mitochondrial DNA deletion (2007) (2)
A rare variant of Guillain-Barré syndrome with acute motor axonal neuropathy (AMAN) in a Caucasian boy. (2000) (1)
P 328. Novel Homozygous Variants Confirm SPTBN4-Related Congenital Myopathy and Expand the Clinical Phenotype (2018) (1)
Generation of four iPSC lines from four patients with Leigh syndrome carrying homoplasmic mutations m.8993T > G or m.8993T > C in the mitochondrial gene MT-ATP6. (2022) (1)
RegEl corpus: identifying DNA regulatory elements in the scientific literature (2022) (1)
Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle (2023) (1)
Presence of anti-neuronal antibodies in children with neurological disorders beyond encephalitis. (2020) (1)
Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason (2021) (1)
Homozygous mutation in murine retrovirus integration site 1 gene associated with a non‐syndromic form of isolated familial achalasia (2020) (1)
Critically Ill Patients With Icu-Acquired Weakness Show Reduced Density of Myosin in Electron Microscope Early After Onset of Critical Illness (2015) (1)
A heterozygous genomic rearrangement in a patient with juvenile spinal muscle atrophy with respiratory distress type 1 (SMARD1) (2004) (1)
Public data sources for regulatory genomic features (2021) (1)
Author response for "Phenotero: Annotate as you write" (2018) (0)
METABOLIC MYOPATHIES I P.275A case of late-onset multiple acyl-coenzyme: a dehydrogenase deficiency in a young female of Turkish descent (2018) (0)
Extended phenotype of SMA with respiratory distress type 1 (SMARD1) (2002) (0)
XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary) (2015) (0)
Subject Index Vol. 69, 2008 (2008) (0)
OP-BRAI190255 2948..2964 (2019) (0)
variations in single patients and in cohorts interactive evaluation of copy number a web-based tool for the CNVinspector : Seelow (2013) (0)
I.6Arthrogryposis multiplex congenita; new genes & old acquaintances (2019) (0)
Incurable Leigh Syndrome: Scientists create first human model for rare disease (2021) (0)
Alpha-tocopherol transfer protein in human placenta (2004) (0)
Author response: Met and Cxcr4 cooperate to protect skeletal muscle stem cells against inflammation-induced damage during regeneration (2021) (0)
Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance (2010) (0)
T.O. 5 Lack of myostatin results in satellite independent muscle fibre hypertrophy and mitochondrial depletion (2006) (0)
Distress Type 1 (SMARD1) The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory (2011) (0)
Table 2. [Clinical Signs that Help Distinguish FRDA from AVED]. (2016) (0)
T.O.7 Blockade of Myostatin/ActRIIB signalling induces skeletal muscle fatigability and exercise intolerance (2012) (0)
P.286Restoration of dystrophin at critical sites of expression following exon skipping (2019) (0)
Table 3. [TTPA Pathogenic Variants Discussed in This GeneReview]. (2016) (0)
SSIEM 2015 Annual Symposium (2015) (0)
P.302 In vivo analysis of dystrophin (re-) expression in DmdEGFP and DmdEGFP-mdx reporter mice (2017) (0)
CJN-ABSTRACT 1..6 (2021) (0)
Contents Vol. 69, 2008 (2008) (0)
Mutation detection in the non-coding genome (2021) (0)
A novel X-linked neurodegenerative disorder affecting the central, peripheral and autonomic nervous system (2012) (0)
Molecular diagnostics of mitochondrial encephalomyopathies (2005) (0)
Mutant Plasticity Related Gene 1 (PRG1) acts as a potential modifier in SCN1A related epilepsy (2018) (0)
P3.16 Myostatin inhibits differentiation of normal and dysferlin-deficient human skeletal myoblasts – similarities and differences (2010) (0)
A young woman with multiple acyl-CoA dehydrogenase deficiency (MADD) (2021) (0)
iPSC-derived neural progenitors carrying a MT-ATP6 mutation exhibit mitochondrial hyperpolarization and calcium-related defects (2015) (0)
Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis (2023) (0)
Diagnosis of Taenia solium infections based on “mail order” RNA-sequencing of single tapeworm egg isolates from stool samples (2021) (0)
Autoantibody detection by a live cell-based assay in conventionally antibody-tested triple seronegative Myasthenia gravis (2023) (0)
Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C) (2016) (0)
CARbon DIoxide for the treatment of Febrile seizures: rationale, feasibility, and design of the CARDIF-study (2013) (0)
HFE Genotyping by Amplification Refractory Mutation (2002) (0)
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features (2022) (0)
Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological Disease (2023) (0)
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels (2017) (0)
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency (2018) (0)
Identification of Taenia solium based on single tapeworm eggs in diagnostic stool samples using RNA sequencing v1 (2020) (0)
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness (2017) (0)
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings (2023) (0)
DMD – ANIMAL MODELS EP.77 Subcellular organization of skeletal muscle dystrophin is restored by tricyclo-DNA mediated exon skipping in the DmdEGFP-mdx mouse model (2021) (0)
Diagnosis of Taenia solium infections based on “mail order” RNA-sequencing of single tapeworm egg isolates from stool samples v1 (2021) (0)
Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations. (2023) (0)
RNA-based generation of iPSCs from a boy carrying the mutation m.9185 T>C in the mitochondrial gene MT-ATP6 and from his healthy mother. (2022) (0)
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype. (2023) (0)
Dynamic Studies of Slip Line Formation on Single Crystals of fcc Solid solutions (1989) (0)
CONGENITAL MYOPATHIES: GENERAL AND RYR1 P.39Congenital cytoplasmic body myopathy – a nosological clarification (2018) (0)
A new form of spinal muscular atrophy (2006) (0)
[Diagnostic precision of liver scintigraphy in the diagnosis of metastases]. (1974) (0)
Reply: Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons (2011) (0)
G.P.102 Axial myopathy in a patient with a heterozygous MSTN mutation (2015) (0)
Inward rectifying potassium channel KIR4.1-specific antibodies in children with acquired demyelinating CNS disease (2013) (0)
FV 563. Frequency and Relevance of Neuronal Autoantibodies in Childhood Neurological Disorders (2018) (0)
Phenotype and genotype of spinal muscular atrophy with respiratory distress type 1 (2003) (0)
15th Conference on Applied Surface Analysis—AOFA 15 (2009) (0)

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What Schools Are Affiliated With Markus Schuelke?

Markus Schuelke is affiliated with the following schools:

Humboldt University of Berlin
University of California, Berkeley
Stanford University