Hakutulokset - Crosby, Andrew H

Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia? Tekijä Crosby, Andrew H., Proukakis, Christos

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Lipid metabolic pathways converge in motor neuron degenerative diseases Tekijä Rickman, Olivia J, Baple, Emma L, Crosby, Andrew H

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Assessing performance of pathogenicity predictors using clinically relevant variant datasets Tekijä Gunning, Adam C, Fryer, Verity, Fasham, James, Crosby, Andrew H, Ellard, Sian, Baple, Emma L, Wright, Caroline F

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Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia Tekijä Simpson, Michael A., Cross, Harold, Proukakis, Christos, Pryde, Anna, Hershberger, Ruth, Chatonnet, Arnaud, Patton, Michael A., Crosby, Andrew H.

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Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics Tekijä Borah, Khushboo, Rickman, Olivia J., Voutsina, Nikol, Baple, Emma L., Dias, Irundika HK, Crosby, Andrew H., Griffiths, Helen R.

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Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families Tekijä Akbar, Abida, Prince, Claire, Payne, Chloe, Fasham, James, Ahmad, Wasim, Baple, Emma L., Crosby, Andrew H., Harlalka, Gaurav V., Gul, Asma

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PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions Tekijä Wilson, Rosemary H.C., Biasutto, Antonio J., Wang, Lihao, Fischer, Roman, Baple, Emma L., Crosby, Andrew H., Mancini, Erika J., Green, Catherine M.

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A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism Tekijä Borah, Khushboo, Rickman, Olivia J., Voutsina, Nikol, Ampong, Isaac, Gao, Dan, Baple, Emma L., Dias, Irundika HK., Crosby, Andrew H., Griffiths, Helen R.

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Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report Tekijä Ullah, Muhammad Ikram, Nasir, Abdul, Ahmad, Arsalan, Harlalka, Gaurav Vijay, Ahmad, Wasim, Hassan, Muhammad Jawad, Baple, Emma L., Crosby, Andrew H., Chioza, Barry A.

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Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature Tekijä Lin, Siying, Harlalka, Gaurav V., Hameed, Abdul, Reham, Hadia Moattar, Yasin, Muhammad, Muhammad, Noor, Khan, Saadullah, Baple, Emma L., Crosby, Andrew H., Saleha, Shamim

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An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex–driven autophagosomal remodeling pathway Tekijä Mathiowetz, Alyssa J., Baple, Emma, Russo, Ashley J., Coulter, Alyssa M., Carrano, Eric, Brown, Judith D., Jinks, Robert N., Crosby, Andrew H., Campellone, Kenneth G.

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Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families Tekijä Khan, Shazia, Rawlins, Lettie E., Harlalka, Gaurav V., Umair, Muhammad, Ullah, Asmat, Shahzad, Shaheen, Javed, Muhammad, Baple, Emma L., Crosby, Andrew H., Ahmad, Wasim, Gul, Asma

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No association between SCN9A and monogenic human epilepsy disorders Tekijä Fasham, James, Leslie, Joseph S., Harrison, Jamie W., Deline, James, Williams, Katie B., Kuhl, Ashley, Scott Schwoerer, Jessica, Cross, Harold E., Crosby, Andrew H., Baple, Emma L.

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Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel Tekijä Aharoni, Sharon, Barwick, Katy E. S., Straussberg, Rachel, Harlalka, Gaurav V., Nevo, Yoram, Chioza, Barry A., McEntagart, Meriel M., Mimouni-Bloch, Aviva, Weedon, Michael, Crosby, Andrew H.

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An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia Tekijä Rawlins, Lettie E., Jones, Hannah, Wenger, Olivia, Aye, Myat, Fasham, James, Harlalka, Gaurav V., Chioza, Barry A., Miron, Alexander, Ellard, Sian, Wakeling, Matthew, Crosby, Andrew H., Baple, Emma L.

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A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report Tekijä DEHGHAN TEZERJANI, Masoud, MAROOFIAN, Reza, VAHIDI MEHRJARDI, Mohammad Yahya, CHIOZA, Barry A., ZAMANINEJAD, Shiva, KALANTAR, Seyed Mehdi, NORI-SHADKAM, Mahmoud, GHADIMI, Hamidreza, BAPLE, Emma L., CROSBY, Andrew H., DEHGHANI, Mohammadreza

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Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia Tekijä Khalaf-Nazzal, Reham, Fasham, James, Ubeyratna, Nishanka, Evans, David J., Leslie, Joseph S., Warner, Thomas T., Al-Hijawi, Fida’, Alshaer, Shurouq, Baker, Wisam, Turnpenny, Peter D., Baple, Emma L., Crosby, Andrew H.

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CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago Tekijä Ma, Yan, Wang, Xun, Shoshany, Nadav, Jiao, Xiaodong, Lee, Adrian, Ku, Gregory, Baple, Emma L., Fasham, James, Nadeem, Raheela, Naeem, Muhammad Asif, Riazuddin, Sheikh, Riazuddin, S. Amer, Crosby, Andrew H., Hejtmancik, J. Fielding

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Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in P... Tekijä Shakil, Muhammad, Harlalka, Gaurav V., Ali, Shamshad, Lin, Siying, D’Atri, Ilaria, Hussain, Shabbir, Nasir, Abdul, Shahzad, Muhammad Aiman, Ullah, Muhammad Ikram, Self, Jay E., Baple, Emma L., Crosby, Andrew H., Mahmood, Saqib

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Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency Tekijä Lin, Siying, Fasham, James, Al-Hijawi, Fida’, Qutob, Nouar, Gunning, Adam, Leslie, Joseph S., McGavin, Lucy, Ubeyratna, Nishanka, Baker, Wisam, Zeid, Ramez, Turnpenny, Peter D., Crosby, Andrew H., Baple, Emma L., Khalaf-Nazzal, Reham

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