Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia?

Bằng Crosby, Andrew H., Proukakis, Christos
Được phát hành 2002

PCNA mutation affects DNA repair not replication

Bằng Green, Catherine M, Baple, Emma L, Crosby, Andrew H
Xuất bản năm Cell Cycle (2014)

Lipid metabolic pathways converge in motor neuron degenerative diseases

Bằng Rickman, Olivia J, Baple, Emma L, Crosby, Andrew H
Xuất bản năm Brain (2020)

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

Bằng Gunning, Adam C, Fryer, Verity, Fasham, James, Crosby, Andrew H, Ellard, Sian, Baple, Emma L, Wright, Caroline F
Xuất bản năm J Med Genet (2021)

Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia

Bằng Simpson, Michael A., Cross, Harold, Proukakis, Christos, Pryde, Anna, Hershberger, Ruth, Chatonnet, Arnaud, Patton, Michael A., Crosby, Andrew H.
Được phát hành 2003

Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics

Bằng Borah, Khushboo, Rickman, Olivia J., Voutsina, Nikol, Baple, Emma L., Dias, Irundika HK, Crosby, Andrew H., Griffiths, Helen R.
Xuất bản năm Data Brief (2020)

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

Bằng Akbar, Abida, Prince, Claire, Payne, Chloe, Fasham, James, Ahmad, Wasim, Baple, Emma L., Crosby, Andrew H., Harlalka, Gaurav V., Gul, Asma
Xuất bản năm BMC Med Genet (2019)

PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions

Bằng Wilson, Rosemary H.C., Biasutto, Antonio J., Wang, Lihao, Fischer, Roman, Baple, Emma L., Crosby, Andrew H., Mancini, Erika J., Green, Catherine M.
Xuất bản năm DNA Repair (Amst) (2017)

A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism

Bằng Borah, Khushboo, Rickman, Olivia J., Voutsina, Nikol, Ampong, Isaac, Gao, Dan, Baple, Emma L., Dias, Irundika HK., Crosby, Andrew H., Griffiths, Helen R.
Xuất bản năm Redox Biol (2020)

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

Bằng Ullah, Muhammad Ikram, Nasir, Abdul, Ahmad, Arsalan, Harlalka, Gaurav Vijay, Ahmad, Wasim, Hassan, Muhammad Jawad, Baple, Emma L., Crosby, Andrew H., Chioza, Barry A.
Xuất bản năm BMC Med Genet (2018)

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

Bằng Lin, Siying, Harlalka, Gaurav V., Hameed, Abdul, Reham, Hadia Moattar, Yasin, Muhammad, Muhammad, Noor, Khan, Saadullah, Baple, Emma L., Crosby, Andrew H., Saleha, Shamim
Xuất bản năm BMC Med Genet (2018)

An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex–driven autophagosomal remodeling pathway

Bằng 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.
Xuất bản năm Mol Biol Cell (2017)

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

Bằng 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
Xuất bản năm BMC Med Genet (2019)

No association between SCN9A and monogenic human epilepsy disorders

Bằng 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.
Xuất bản năm PLoS Genet (2020)

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

Bằng 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.
Xuất bản năm BMC Med Genet (2016)

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

Bằng 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.
Xuất bản năm Eur J Hum Genet (2019)

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

Bằng 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
Xuất bản năm Iran J Public Health (2016)

Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia

Bằng 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.
Xuất bản năm Brain Sci (2021)

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

Bằng Iype, Thomas, Alakbarzade, Vafa, Iype, Mary, Singh, Royana, Sreekantan-Nair, Ajith, Chioza, Barry A., Mohapatra, Tribhuvan M., Baple, Emma L., Patton, Michael A., Warner, Thomas T., Proukakis, Christos, Kulkarni, Abhi, Crosby, Andrew H.
Xuất bản năm BMC Med Genet (2015)

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in P...

Bằng 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
Xuất bản năm Eye (Lond) (2019)