| human | Q5 |
| P496 | ORCID iD | 0000-0002-9125-3171 |
| P1153 | Scopus author ID | 56026914000 |
| P735 | given name | Judith | Q5954149 |
| Judith | Q5954149 | ||
| P106 | occupation | researcher | Q1650915 |
| P21 | sex or gender | female | Q6581072 |
| Q43659789 | 90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands |
| Q29417136 | A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis |
| Q41973119 | A large-scale mutation search reveals genetic heterogeneity in 3M syndrome |
| Q48371686 | A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. |
| Q38300319 | A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy |
| Q29417029 | Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. |
| Q38913129 | An atypical human induced pluripotent stem cell line with a complex, stable, and balanced genomic rearrangement including a large de novo 1q uniparental disomy. |
| Q39722890 | Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis |
| Q48674981 | Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. |
| Q47670946 | Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis |
| Q34063137 | C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis |
| Q48097289 | CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. |
| Q73940792 | Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA |
| Q35671414 | Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study |
| Q41102726 | Correlation between severity and SMN protein level in spinal muscular atrophy |
| Q72679218 | De novo and inherited deletions of the 5q13 region in spinal muscular atrophies |
| Q42115370 | De novo deletions in spinal muscular atrophy: implications for genetic counselling |
| Q99417136 | De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes |
| Q35103428 | Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload |
| Q51767155 | Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. |
| Q39729105 | Gene targeting restricted to mouse striated muscle lineage |
| Q35001476 | Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis |
| Q37390253 | Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren's syndrome |
| Q71973039 | Identification of the gene determining spinal muscular atrophy: perspectives |
| Q36323505 | Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle. |
| Q45149887 | Inter- and intrastrain variation in mouse critical running speed. |
| Q33677204 | Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease |
| Q30090215 | Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy |
| Q49999774 | Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation |
| Q41830106 | Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita |
| Q34235637 | Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. |
| Q40095667 | Messenger RNA- versus retrovirus-based induced pluripotent stem cell reprogramming strategies: analysis of genomic integrity. |
| Q30530610 | Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice |
| Q30413900 | Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. |
| Q30179423 | Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects |
| Q34911098 | Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications |
| Q37342016 | Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. |
| Q28115991 | Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita |
| Q28592750 | Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus |
| Q35071138 | New role for serum response factor in postnatal skeletal muscle growth and regeneration via the interleukin 4 and insulin-like growth factor 1 pathways |
| Q37619291 | No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis |
| Q38313528 | Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy |
| Q34173712 | Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis |
| Q28943310 | Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis |
| Q40089875 | Refined characterization of the expression and stability of the SMN gene products. |
| Q44594497 | Riluzole attenuates spinal muscular atrophy disease progression in a mouse model. |
| Q71945197 | SMN gene deletion in variant of infantile spinal muscular atrophy |
| Q70874351 | SMN gene deletions in adult-onset spinal muscular atrophy |
| Q28268861 | Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1 |
| Q38959323 | Spinal muscular atrophy associated with progressive myoclonus epilepsy |
| Q34737033 | Spinal muscular atrophy: recent advances and future prospects. |
| Q34400462 | Structure and organization of the human survival motor neurone (SMN) gene |
| Q37359165 | Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association |
| Q40253433 | The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype |
| Q24680118 | The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease |
| Q34699419 | The molecular bases of spinal muscular atrophy |
| Q38067072 | The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. |
| Q34389567 | The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements |
| Q77293422 | The role of the SMN gene in proximal spinal muscular atrophy |
| Q33869969 | Three independent mutations in the TSC2 gene in a family with tuberous sclerosis |
| Q36133257 | Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis |
| Q33369541 | YB-1 promotes microtubule assembly in vitro through interaction with tubulin and microtubules |
| Q58062399 | [Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies] |
| Q48053808 | cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn). |
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