I. Nelson

发表

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

S. Hanein, A. Dürr, P. Ribai, 2007, Human Genetics.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

L. Servais, I. Nelson, N. Romero, 2016, American journal of human genetics.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2021, medRxiv.

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

I. Nelson, E. Malfatti, N. Romero, 2018, Journal of neuropathology and experimental neurology.

Clinical heterogeneity and phenotype / genotype findings in 5 families with ITGYG 1 IT deficiency

I. Nelson, E. Malfatti, N. Romero, 2019 .

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

I. Nelson, E. Malfatti, N. Romero, 2017, Neurology: Genetics.

A new titinopathy

I. Nelson, E. Malfatti, N. Romero, 2015, Neurology.

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

R. Finkel, K. Bushby, J. Jaiswal, 2020, Annals of neurology.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

I. Nelson, F. Chapon, I. Richard, 2018, European journal of neurology.

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene

M. Ruberg, A. Dürr, P. Ribai, 2006, Neurogenetics.

Myofibrillar myopathies: State of the art, present and future challenges.

I. Nelson, D. Figarella-Branger, N. Romero, 2015, Revue neurologique.

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease

I. Nelson, N. Wood, H. Houlden, 2002, Journal of neurology, neurosurgery, and psychiatry.

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

I. Nelson, A. Toutain, J. Deleuze, 2020, European journal of medical genetics.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

I. Nelson, R. Carlier, P. Carlier, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy

I. Nelson, M. Bitoun, M. Beuvin, 2017, Molecular therapy. Nucleic acids.

FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.

I. Nelson, K. Mamchaoui, M. Beuvin, 2016, Journal of neuromuscular diseases.

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.

I. Nelson, A. D’Amico, R. Carlier, 2021, Brain : a journal of neurology.

Depletion of mitochondrial DNA by ddC in untransformed human cell lines

M. Hanna, I. Nelson, N. Wood, 1997, Somatic cell and molecular genetics.

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNAPhe gene

I. Nelson, W. Kunz, S. Lavoué, 2010, Neurology.

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

D. Sillence, W. Reardon, P. Hindmarsh, 2000, Journal of medical genetics.

Limb girdle muscular dystrophy due to mutations in POMT2

D. MacArthur, M. Lek, K. Claeys, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

I. Nelson, M. Cossée, I. Richard, 2014, European Journal of Human Genetics.

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

J. Jais, K. Claeys, I. Nelson, 2016, Revue neurologique.

Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies

D. Israeli, L. Servais, I. Nelson, 2013, PloS one.

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

I. Nelson, N. Wood, S. Heales, 1998, American journal of human genetics.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

I. Nelson, J. Cooper, A. Schapira, 1999, American journal of human genetics.

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.

D. Turnbull, I. Nelson, N. Wood, 1999, American journal of human genetics.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2022, Nature Communications.

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

C. Béroud, I. Nelson, A. Toutain, 2015, Journal of neuromuscular diseases.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.

F. Sedel, I. Nelson, S. Allouche, 2014, Mitochondrion.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome

M. Bihoreau, L. Servais, I. Nelson, 2016, Journal of Neurology.

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity

I. Nelson, N. Wood, M. Hanna, 1998, Journal of neurology, neurosurgery, and psychiatry.

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

B. Asselbergh, I. Nelson, A. Boland, 2019, Neurology: Genetics.

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

A. Durr, P. Ribai, I. Nelson, 2006, Journal of Neurology.

Nucleic Acids Research Mapping of heteroplasnic mitochondrial DNA deletions in Kearns-Sayre syndrome

Bert, I. Nelson, K. Gerbitz, 2022 .

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, European Journal of Human Genetics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

I. Nelson, N. Wood, M. Hanna, 1999, Annals of neurology.

Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases

I. Nelson, M. Hanna, 1999, Cellular and Molecular Life Sciences CMLS.

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

M. Ruberg, A. Dürr, P. Ribai, 2006, Neurology.

Erratum to “Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA” J. Neurol. Sci. 130 (1995) 154–160

I. Nelson, A. Harding, J. Morgan-Hughes, 1995, Journal of the Neurological Sciences.

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

I. Nelson, A. Harding, J. Morgan-Hughes, 1995, Journal of the Neurological Sciences.

Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle

I. Nelson, N. Romero, B. Eymard, 1989, Journal of the Neurological Sciences.

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

I. Nelson, N. Romero, A. Boland, 2018, European Journal of Human Genetics.

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.

I. Nelson, J. Cooper, A. Harding, 1995, American journal of human genetics.

I. Nelson, N. Romero, B. Eymard, 2022, Journal of neuromuscular diseases.

Anti-HMGCR Antibody–Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy

P. Vermersch, L. Vallée, I. Nelson, 2017, Neuropediatrics.

Classical mitochondrial phenotypes without mtDNA mutations

I. Nelson, M. Hanna, T. Pulkes, 2003, Neurology.

Myofibrillar myopathies: State of the art, present and future challenges.

I. Nelson, D. Figarella-Branger, N. Romero, 2015, Revue neurologique (Paris).

Mitochondrial DNA in Postmortem Brain from Patients with Parkinson's Disease

K. Jellinger, H. Reichmann, P. Riederer, 1991, Journal of neurochemistry.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

G.O.10 Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality

I. Nelson, E. Malfatti, N. Romero, 2015, Neuromuscular Disorders.

Myofibrillar myopathies: State of the art, present and future challenges.

I. Nelson, D. Figarella-Branger, N. Romero, 2015, Revue neurologique.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.