Research Output

Research Output per year

1991 2020

• 49 Article
• 1 Letter

Research Output per year

Research Output per year

Search results

• 2020

  Whole exome sequencing reveals a homozygous SGCB variant in a Pakhtun family with limb girdle muscular dystrophy (LGMDR4) phenotype

  Tariq, M., Latif, M., Inam, M., Jan, A., Bibi, N., Mohamoud, H. S. A., Ali, I., Ahmad, H., Khan, A., Nasir, J., Wadood, A. & Jelani, M., 26 Dec 2020, In: Gene Reports. 22, p. 101-14

  Research output: Contribution to Journal › Article › peer-review

  • Limb-Girdle Muscular Dystrophies
  • Whole Exome Sequencing
  • Phenotype
  • Limb-girdle muscular dystrophy type 2A
  • Molecular Docking Simulation
• 2019

  A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

  Jelani, M., Dooley, H. C., Gubas, A., Mohamoud, H. S. A., Masood Khan, M. T., Ali, Z., Kang, C., Rahim, F., Jan, A., Vadgama, N., Khan, M. I., Al-Aama, J. Y., Khan, A., Tooze, S. A. & Nasir, J., 10 Apr 2019, In: Brain. 142, 5, p. 1242-1254 13 p.

  Research output: Contribution to Journal › Article › peer-review

  Open Access

  File

  • WD40 Repeats
  • Phosphatidylinositols
  • Autophagy
  • Mutation
  • Pedigree

• De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

  Vadgama, N., Pittman, A., Simpson, M., Nirmalananthan, N., Murray, R., Yoshikawa, T., De Rijk, P., Rees, E., Kirov, G., Hughes, D., Fitzgerald, T., Kristiansen, M., Pearce, K., Cerveira, E., Zhu, Q., Zhang, C., Lee, C., Hardy, J. & Nasir, J., 18 Mar 2019, In: European journal of human genetics : EJHG. 27, p. 1121-1133 13 p.

  Research output: Contribution to Journal › Article › peer-review

  Open Access

  File

  • Monozygotic Twins
  • Twins
  • Nucleotides
  • Genes
  • Amyotrophic Lateral Sclerosis

• Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke

  Vadgama, N., Lamont, D., Hardy, J., Nasir, J. & Lovering, R. C., 29 Jan 2019, In: Molecular and Cellular Biochemistry. 456, 1-2, p. 157-165 9 p.

  Research output: Contribution to Journal › Article › peer-review

  Open Access

  File

  • Monozygotic Twins
  • Twins
  • Proteomics
  • Stroke
  • Gene Ontology

• Overexpression of the dopamine receptor‐interacting protein Alix/ AIP 1 modulates NMDA receptor‐triggered cell death

  Nasir, J., 1 Jun 2019, In: FEBS Letters. 593, 12, p. 1381-1391

  Research output: Contribution to Journal › Article › peer-review

  Open Access

  File

  • Cell death
  • N-Methylaspartate
  • N-Methyl-D-Aspartate Receptors
  • Dopamine
  • Cell Death
• 2018

  A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

  Mohamoud, H. S., Ahmed, S., Jelani, M., Alrayes, N., Childs, K., Vadgama, N., Almramhi, M. M., Al-Aama, J. Y., Goodbourn, S. & Nasir, J., 1 Feb 2018, In: Scientific Reports. 8, 1, p. 1-9 9 p., 2053 (2018) .

  Research output: Contribution to Journal › Article › peer-review

  Open Access

  File

  • Missense Mutation
  • Intellectual Disability
  • Polydactyly
  • benzyloxycarbonylleucyl-leucyl-leucine aldehyde
  • Language Development Disorders
• 2015

  Elevated γ-glutamyltransferase and erythrocyte sedimentation rate in ischemic stroke in discordant monozygotic twin study

  Vadgama, N., Gaze, D., Ranson, J., Hardy, J. & Nasir, J., 1 Jun 2015, In: International Journal of Stroke. 10, 4, p. E32-E33 2 p.

  Research output: Contribution to Journal › Article › peer-review

  • Twin Studies
  • Monozygotic Twins
  • Blood Sedimentation
  • Twins
  • Stroke

• Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

  Ahmed, S., Jelani, M., Alrayes, N., Mohamoud, H. S. A., Almramhi, M. M., Anshasi, W., Ahmed, N. A. B., Wang, J., Nasir, J. & Al-Aama, J. Y., 15 Jun 2015, In: Journal of the Neurological Sciences. 353, 1-2, p. 149-154 6 p.

  Research output: Contribution to Journal › Article › peer-review

  • Gonadal dysgenesis XX type deafness
  • Exome
  • Missense Mutation
  • Primary Ovarian Insufficiency
  • Puberty

• Identical non-identical twins and non-identical identical twins

  Vadgama, N., Nirmalananthan, N., Sadiq, M., Hardy, J. & Nasir, J., 11 Dec 2015, In: BMJ (Online). 351, p. 1-1 1 p.

  Research output: Contribution to Journal › Letter

• Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

  Alrayes, N., Mohamoud, H. S. A., Jelani, M., Ahmad, S., Vadgama, N., Bakur, K., Simpson, M., Al-Aama, J. Y. & Nasir, J., 27 Jun 2015, In: BMC Research Notes. 8, 1

  Research output: Contribution to Journal › Article › peer-review

  Open Access

  • Phospholipases A1
  • Hereditary Spastic Paraplegia
  • Lipid Metabolism
  • Intellectual Disability
  • Genes
• 2010

  Genetics of speech sounds great

  Nasir, J., 19 Jul 2010, In: Clinical Genetics. 54, 2, p. 117-118 2 p.

  Research output: Contribution to Journal › Article
• 2009

  CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment

  Newbury, D. F., Winchester, L., Addis, L., Paracchini, S., Buckingham, L. L., Clark, A., Cohen, W., Cowie, H., Dworzynski, K., Everitt, A., Goodyer, I. M., Hennessy, E., Kindley, A. D., Miller, L. L., Nasir, J., O'Hare, A., Shaw, D., Simkin, Z., Simonoff, E., Slonims, V. & 11 others, Watson, J., Ragoussis, J., Fisher, S. E., Seckl, J. R., Helms, P. J., Bolton, P. F., Pickles, A., Conti-Ramsden, G., Baird, G., Bishop, D. V. M. & Monaco, A. P., 14 Aug 2009, In: The American Journal of Human Genetics. 85, 2, p. 264-272 9 p.

  Research output: Contribution to Journal › Article › peer-review

  • Short-Term Memory
  • Language
  • Proto-Oncogene Proteins c-maf
  • Human Genetics
  • Calcium-Transporting ATPases
• 2008

  Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: An endophenotypic marker?

  Frima, N., Nasir, J. & Grünewald, R. A., 15 Feb 2008, In: Movement Disorders. 23, 3, p. 373-377 5 p.

  Research output: Contribution to Journal › Article › peer-review

  • Dystonic Disorders
  • Illusions
  • Vibration
  • Fatigue
  • Healthy Volunteers

• ALG-2 interacting protein AIP1: A novel link between D1 and D3 signalling

  Zhan, L., Liu, B., Jose-Lafuente, M., Chibalina, M. V., Grierson, A., Maclean, A. & Nasir, J., Apr 2008, In: European Journal of Neuroscience. 27, 7, p. 1626-1633 8 p.

  Research output: Contribution to Journal › Article › peer-review

  • Mouse Pdcd6ip protein
  • Caspases
  • Proteins
  • Yeasts
  • Dopamine D4 Receptors
• 2007

  Severe receptive language disorder in childhood-familial aspects and long-term outcomes: Results from a Scottish study

  Clark, A., O'Hare, A., Watson, J., Cohen, W., Cowie, H., Elton, R., Nasir, J. & Seckl, J., 1 Jul 2007, In: Archives of Disease in Childhood. 92, 7, p. 614-619 6 p.

  Research output: Contribution to Journal › Article › peer-review

  • Language Disorders
  • Language
  • Siblings
  • Memory
  • Child
• 2006

  Unbalanced whole arm translocation resulting in loss of 18p in dystonia

  Nasir, J., Frima, N., Pickard, B., Malloy, M. P., Zhan, L. & Grünewald, R., Jun 2006, In: Movement Disorders. 21, 6, p. 859-863 5 p.

  Research output: Contribution to Journal › Article › peer-review

  • Dystonia
  • Arm
  • Dystonic Disorders
  • ARK 62-62
  • Blepharospasm
• 2003

  A genetic screen for suppression of polyglutamine induced toxicity in flies

  Nasir, J., 11 Mar 2003, In: Clinical Genetics. 57, 6, p. 418-419 2 p.

  Research output: Contribution to Journal › Article

• A second gene for myotonic dystrophy

  Nasir, J., 11 Mar 2003, In: Clinical Genetics. 55, 1, p. 12-12 1 p.

  Research output: Contribution to Journal › Article

• Expression profiling in cancer using gene chips

  Nasir, J., 11 Mar 2003, In: Clinical Genetics. 57, 6, p. 415-416 2 p.

  Research output: Contribution to Journal › Article

• Genetics of sexual orientation

  Nasir, J., 11 Mar 2003, In: Clinical Genetics. 56, 5, p. 340-341 2 p.

  Research output: Contribution to Journal › Article

• Hopes pinned on microarray technology to defeat TB

  Nasir, J., 11 Mar 2003, In: Clinical Genetics. 56, 5, p. 339-340 2 p.

  Research output: Contribution to Journal › Article

• HotSpots: Catch 22

  Nasir, J., 11 Mar 2003, In: Clinical Genetics. 55, 6, p. 396-397 2 p.

  Research output: Contribution to Journal › Article

• HotSpots: The Fat gene

  Nasir, J., 11 Mar 2003, In: Clinical Genetics. 55, 6, p. 395-395 1 p.

  Research output: Contribution to Journal › Article

• Interacting proteins in yeast - a perfect marriage

  Nasir, J., 11 Mar 2003, In: Clinical Genetics. 57, 6, p. 416-417 2 p.

  Research output: Contribution to Journal › Article
• 2002

  Analysis of triplet repeat disorders: D. C. Rubinsztein and M. R. Hayden (Editors)

  Nasir, J., 25 Aug 2002, In: Human Molecular Genetics. 104, 4, p. 357-357 1 p.

  Research output: Contribution to Journal › Article

• BRCA2 and p53 work together in breast cancer

  Nasir, J., 2002, In: The Lancet Oncology. 3, 2, p. 69

  Research output: Contribution to Journal › Article

• DNA microarrays give breast cancer leads

  Nasir, J., 25 Jul 2002, In: The Lancet Oncology. 2, 2, p. 68

  Research output: Contribution to Journal › Article

• Genomic organization of the human caspase-9 gene on Chromosome 1p36.1-p36.3

  Vaillancourt, J. P., Beatty, B. G., Rasper, D. M., Hayden, M. R., Nichol, K., Hadano, S., Ikeda, J-E., Sherer, S. W. & Nasir, J., 25 Aug 2002, In: Mammalian Genome. 10, 7, p. 757-760 4 p.

  Research output: Contribution to Journal › Article › peer-review

• Novel therapy for basal-cell carcinoma

  Nasir, J., 25 Jul 2002, In: The Lancet Oncology. 1, 2, p. 67

  Research output: Contribution to Journal › Article

• Protection against breast cancer in mice lacking a key protein

  Nasir, J., 25 Jul 2002, In: The Lancet Oncology. 2, 8, p. 465

  Research output: Contribution to Journal › Article
• 2001

  A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

  Hadano, S., Hand, C. K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R. S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., Figlewicz, D. A., Kwiatkowski, T., Hosler, B. A., Sagie, T., Skaug, J., Nasir, J., Brown, R. H., Scherer, S. W., Rouleau, G. A., Hayden, M. R. & 1 others, Ikeda, J. E., 1 Oct 2001, In: Nature Genetics. 29, p. 166-173 8 p.

  Research output: Contribution to Journal › Article › peer-review

  • Amyotrophic lateral sclerosis 1
  • GTP Phosphohydrolases
  • Amyotrophic Lateral Sclerosis
  • Sequence Deletion
  • Genes

• Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: Candidate genes for ALS2

  Hadano, S., Yanagisawa, Y., Skaug, J., Fichter, K., Nasir, J., Martindale, D., Koop, B. F., Scherer, S. W., Nicholson, D. W., Rouleau, G. A., Ikeda, J. E. & Hayden, M. R., 15 Jan 2001, In: Genomics. 71, 2, p. 200-213 14 p.

  Research output: Contribution to Journal › Article › peer-review

  • Juvenile Amyotrophic Lateral Sclerosis 2
  • Amyotrophic Lateral Sclerosis
  • Organism Cloning
  • Chromosomes
  • Genes

• HotSpots: Neurogenesis challenges age old dogma

  Nasir, J., 24 Dec 2001, In: Clinical Genetics. 55, 6, p. 395-396 2 p.

  Research output: Contribution to Journal › Article

• Sunburn in childhood linked to melanoma

  Nasir, J., 2001, In: The Lancet Oncology. 2, 11, p. 653

  Research output: Contribution to Journal › Article
• 2000

  Tumor resistance in mice lacking telomerase

  Nasir, J., 9 Sep 2000, In: The Lancet. 356, 9233, p. 917

  Research output: Contribution to Journal › Article
• 1999

  A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration

  Hodgson, J. G., Agopyan, N., Gutekunst, C. A., Leavitt, B. R., Lepiane, F., Singaraja, R., Smith, D. J., Bissada, N., McCutcheon, K., Nasir, J., Jamot, L., Xiao-Jiang, L., Stevens, M. E., Rosemond, E., Roder, J. C., Phillips, A. G., Rubin, E. M., Hersch, S. M. & Hayden, M. R., 1999, In: Neuron. 23, p. 181-192 12 p.

  Research output: Contribution to Journal › Article › peer-review

  • Yeast Artificial Chromosomes
  • Huntington Disease
  • Corpus Striatum
  • Intranuclear Inclusion Bodies
  • Transgenic Mice

• A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34

  Hadano, S., Nichol, K., Brinkman, R. R., Nasir, J., Martindale, D., Koop, B. F., Nicholson, D. W., Scherer, S. W., Ikeda, J. E. & Hayden, M. R., 1 Jan 1999, In: BMC Genomics. 55, 1, p. 106-112 7 p.

  Research output: Contribution to Journal › Article › peer-review

  • Juvenile Amyotrophic Lateral Sclerosis 2
  • Yeast Artificial Chromosomes
  • Human Chromosomes
  • Amyotrophic Lateral Sclerosis
  • Genes

• Life without Huntingtin: Normal differentiation into functional neurons

  Metzler, M., Chen, N., Helgason, C. D., Graham, R. K., Nichol, K., McCutcheon, K., Nasir, J., Humphries, R. K., Raymond, L. A. & Hayden, M. R., 1 Mar 1999, In: Journal of Neurochemistry. 72, p. 1009-1018 10 p.

  Research output: Contribution to Journal › Article › peer-review

  • Stem cells
  • Neurons
  • Embryonic Stem Cells
  • Huntington Disease
  • Brain

• Neuronal degeneration in the basal ganglia and loss of pallido- subthalamic synapses in mice with targeted disruption of the Huntington's disease gene

  O'Kusky, J. R., Nasir, J., Cicchetti, F., Parent, A. & Hayden, M. R., 13 Feb 1999, In: Brain Research. 818, 2, p. 468-479 12 p.

  Research output: Contribution to Journal › Article › peer-review

  • Huntington Disease
  • Basal Ganglia
  • Subthalamic Nucleus
  • Synapses
  • Neurons
• 1998

  Cell death attenuation by 'Usurpin', a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex

  Rasper, D. M., Vaillancourt, J. P., Hadano, S., Houtzager, V. M., Seiden, I., Keen, S. L. C., Tawa, P., Xanthoudakis, S., Nasir, J., Martindale, D., Koop, B. F., Peterson, E. P., Thornberry, N. A., Huang, J. Q., MacPherson, D. P., Black, S. C., Hornung, F., Lenardo, M. J., Hayden, M. R., Roy, S. & 1 others, Nicholson, D. W., 1998, In: Cell Death and Differentiation. 5, 4, p. 271-288 18 p.

  Research output: Contribution to Journal › Article › peer-review

  • Caspase 8
  • Caspases
  • Cell Death
  • Caspase 10
  • Reperfusion Injury
• 1997

  Interleukin-1β-converting enzyme (ICE) and related cell death genes ICE(rel)-II and ICE(rel)-III map to the same PAC clone at band 11q22.2-22.3

  Nasir, J., Theilmann, J. L., Vaillancourt, J. P., Munday, N. A., Ali, A., Scherer, S., Beatty, B., Nicholson, D. W. & Hayden, M. R., 1997, In: Mammalian Genome. 8, 8, p. 611-613 3 p.

  Research output: Contribution to Journal › Article › peer-review
• 1996

  Huntington disease: new insights into the relationship between CAG expansion and disease

  Nasir, J., Goldberg, Y. P. & Hayden, M. R., 1996, In: Human Molecular Genetics Review. 5, p. 1431-1435 5 p.

  Research output: Contribution to Journal › Article › peer-review

  • Huntington Disease
  • Huntingtin Protein
  • polyglutamine
  • Apoptosis
  • Cysteine Proteases
• 1995

  Genomic organization of the human α-adducin gene and its alternately spliced isoforms

  Lin, B., Nasir, J., McDonald, H., Graham, R., Rommens, J. M., Goldberg, Y. P. & Hayden, M. R., 1 Jan 1995, In: Genomics. 25, 1, p. 93-99 7 p.

  Research output: Contribution to Journal › Article › peer-review

  • adducin
  • Protein Isoforms
  • Genes
  • RNA Splice Sites
  • Exons

• Structural analysis of the 5′ region of mouse and human huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms

  Lin, B., Nasir, J., Kalchman, M. A., McDonald, H., Zeisler, J., Goldberg, Y. P. & Hayden, M. R., 1995, In: BMC Genomics. 25, 3, p. 707-715 9 p.

  Research output: Contribution to Journal › Article › peer-review

  • Huntington Disease
  • Genetic Promoter Regions
  • Genes
  • Exons
  • Nucleotides

• Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

  Nasir, J., Floresco, S. B., O'Kusky, J. R., Diewert, V. M., Richman, J. M., Zeisler, J., Borowski, A., Marth, J. D., Phillips, A. G. & Hayden, M. R., 2 Jun 1995, In: Cell. 81, 5, p. 811-823 13 p.

  Research output: Contribution to Journal › Article › peer-review

  Open Access

  • Huntington Disease
  • Heterozygote
  • Genes
  • Somites
  • Gastrulation
• 1994

  Murine α-l-Iduronidase: cDNA isolation and expression

  Clarke, L. A., Nasir, J., Zhang, H., McDonald, H., Applegarth, D. A., Hayden, M. R. & Toone, J., 15 Nov 1994, In: BMC Genomics. 24, 2, p. 311-316 6 p.

  Research output: Contribution to Journal › Article › peer-review

  • Iduronidase
  • Complementary DNA
  • Canidae
  • 3' Untranslated Regions
  • Dinucleotide Repeats

• The murine homologues of the huntington disease gene (Hdh) and the α-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3

  Nasir, J., Lin, B., Bucan, M., Koizumi, T., Nadeau, J. H. & Hayden, M. R., 1 Jul 1994, In: BMC Genomics. 22, 1, p. 198-201 4 p.

  Research output: Contribution to Journal › Article › peer-review

  • adducin
  • Synteny
  • Chromosomes, Human, Pair 5
  • Human Chromosomes
  • Huntington Disease
• 1993

  Differential 3' polyadenylation of the huntington disease gene results in two mRNA species with variable tissue expression

  Lin, B., Rommens, J. M., Graham, R. K., Kalchman, M., Macdonald, H., Nasir, J., Delaney, A., Goldberg, Y. P. & Hayden, M. R., 1 Oct 1993, In: Human Molecular Genetics. 2, 10, p. 1541-1545 5 p.

  Research output: Contribution to Journal › Article › peer-review

  • Polyadenylation
  • Huntington Disease
  • Messenger RNA
  • Complementary DNA
  • Genes

• Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease

  Goldberg, Y. P., Rommens, J. M., Andrew, S. E., Hutchinson, G. B., Lin, B., Theilmann, J., Graham, R., Glaves, M. L., Starr, E., McDonald, H., Nasir, J., Schappert, K., Kalchman, M. A., Clarke, L. A. & Hayden, M. R., 1993, In: Nature. 362, 6418, p. 370-373 4 p.

  Research output: Contribution to Journal › Article › peer-review

  • Huntington Disease
  • Genes
  • adducin
  • Complementary DNA
  • DNA
• 1991

  Co-amplification of L1 line elements with localised low copy repeats in giemsa dark bands: Implications for genome organisation

  Nasir, J., Maconochie, M. K. & Brown, D. M., 25 Jun 1991, In: Nucleic Acids Research. 19, 12, p. 3255-3260 6 p.

  Research output: Contribution to Journal › Article › peer-review

  • Long Interspersed Nucleotide Elements
  • Genomic Segmental Duplications
  • Genome
  • Islands
  • X Chromosome