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Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. [electronic resource] by
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- Salih, Mustafa A M
- Ibáñez, Pablo
- Mukhtar, Maowia M
- Lesage, Suzanne
- Arabi, Ali
- Lohmann, Ebba
- Dürr, Alexandra
- Ahmed, Ammar E M
- Brice, Alexis
Producer: 20061018
In:
Archives of neurology vol. 63
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Upregulation of insulin secretion and downregulation of pro-inflammatory cytokines, oxidative stress and hyperglycemia in STZ-nicotinamide-induced type 2 diabetic rats by Pseuduvaria monticola bark extract. [electronic resource] by
- Taha, Hairin
- Arya, Aditya
- Paydar, Mohammadjavad
- Looi, Chung Yeng
- Wong, Won Fen
- Vasudeva Murthy, C R
- Noordin, M I
- Ali, Hapipah Mohd
- Mustafa, A M
- Hadi, A Hamid A
Producer: 20150205
In:
Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association vol. 66
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Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. [electronic resource] by
- Takashima, Hiroshi
- Boerkoel, Cornelius F
- John, Joy
- Saifi, Gulam Mustafa
- Salih, Mustafa A M
- Armstrong, Dawna
- Mao, Yuxin
- Quiocho, Florante A
- Roa, Benjamin B
- Nakagawa, Masanori
- Stockton, David W
- Lupski, James R
Producer: 20021104
In:
Nature genetics vol. 32
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Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry. [electronic resource] by
- Rashed, Mohamed S
- Saadallah, Amal A A
- Rahbeeni, Zuhair
- Eyaid, Wafaa
- Seidahmed, Mohamed Z
- Al-Shahwan, Saad
- Salih, Mustafa A M
- Osman, Mohammad E
- Al-Amoudi, Mohamed
- Al-Ahaidib, Lujane
- Jacob, Minnie
Producer: 20050510
In:
Biomedical chromatography : BMC vol. 19
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28.
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Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. [electronic resource] by
- Tischfield, Max A
- Bosley, Thomas M
- Salih, Mustafa A M
- Alorainy, Ibrahim A
- Sener, Emin C
- Nester, Michael J
- Oystreck, Darren T
- Chan, Wai-Man
- Andrews, Caroline
- Erickson, Robert P
- Engle, Elizabeth C
Producer: 20051220
In:
Nature genetics vol. 37
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Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. [electronic resource] by
- Elsayed, Liena E O
- Mohammed, Inaam N
- Hamed, Ahlam A A
- Elseed, Maha A
- Salih, Mustafa A M
- Yahia, Ashraf
- Siddig, Rayan A
- Amin, Mutaz
- Koko, Mahmoud
- Elbashir, Mustafa I
- Ibrahim, Muntaser E
- Brice, Alexis
- Ahmed, Ammar E
- Stevanin, Giovanni
Producer: 20190225
In:
BMC medical genetics vol. 19
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30.
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Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? [electronic resource] by
- Hirano, Ryuki
- Interthal, Heidrun
- Huang, Cheng
- Nakamura, Tomonori
- Deguchi, Kimiko
- Choi, Kunho
- Bhattacharjee, Meenakshi B
- Arimura, Kimiyoshi
- Umehara, Fujio
- Izumo, Shuji
- Northrop, Jennifer L
- Salih, Mustafa A M
- Inoue, Ken
- Armstrong, Dawna L
- Champoux, James J
- Takashima, Hiroshi
- Boerkoel, Cornelius F
Producer: 20071217
In:
The EMBO journal vol. 26
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C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. [electronic resource] by
- Carmignac, Virginie
- Salih, Mustafa A M
- Quijano-Roy, Susana
- Marchand, Sylvie
- Al Rayess, Molham M
- Mukhtar, Maowia M
- Urtizberea, Jon A
- Labeit, Siegfried
- Guicheney, Pascale
- Leturcq, France
- Gautel, Mathias
- Fardeau, Michel
- Campbell, Kevin P
- Richard, Isabelle
- Estournet, Brigitte
- Ferreiro, Ana
Producer: 20070626
In:
Annals of neurology vol. 61
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32.
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Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene. [electronic resource] by
- Lee, Ming-Jen
- Stephenson, Dennis A
- Groves, Michael J
- Sweeney, Mary G
- Davis, Mary B
- An, Shu-Fang
- Houlden, Henry
- Salih, Mustafa A M
- Timmerman, Vincent
- de Jonghe, Peter
- Auer-Grumbach, Michaela
- Di Maria, Emilio
- Scaravilli, Francesco
- Wood, Nicholas W
- Reilly, Mary M
Producer: 20040316
In:
Human molecular genetics vol. 12
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. [electronic resource] by
- van Reeuwijk, Jeroen
- Grewal, Prabhjit K
- Salih, Mustafa A M
- Beltrán-Valero de Bernabé, Daniel
- McLaughlan, Jenny M
- Michielse, Caroline B
- Herrmann, Ralf
- Hewitt, Jane E
- Steinbrecher, Alice
- Seidahmed, Mohamed Z
- Shaheed, Mohamed M
- Abomelha, Abdullah
- Brunner, Han G
- van Bokhoven, Hans
- Voit, Thomas
Producer: 20070926
In:
Human genetics vol. 121
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. [electronic resource] by
- Manzini, M Chiara
- Gleason, Danielle
- Chang, Bernard S
- Hill, R Sean
- Barry, Brenda J
- Partlow, Jennifer N
- Poduri, Annapurna
- Currier, Sophie
- Galvin-Parton, Patricia
- Shapiro, Lawrence R
- Schmidt, Karen
- Davis, Jessica G
- Basel-Vanagaite, Lina
- Seidahmed, Mohamed Z
- Salih, Mustafa A M
- Dobyns, William B
- Walsh, Christopher A
Producer: 20081211
In:
Human mutation vol. 29
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A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease. [electronic resource] by
- Elsayed, Liena Elbaghir Omer
- Drouet, Valérie
- Usenko, Tatiana
- Mohammed, Inaam N
- Hamed, Ahlam AbdAlrahman Ahmed
- Elseed, Maha Abdelmoneim
- Salih, Mustafa A M
- Koko, Mahmoud Eltayeb
- Mohamed, Ashraf Yahia Osman
- Siddig, Rayan Abubaker
- Elbashir, Mustafa Idris
- Ibrahim, Muntaser Eltayeb
- Durr, Alexandra
- Stevanin, Giovanni
- Lesage, Suzanne
- Ahmed, Ammar Eltahir
- Brice, Alexis
Producer: 20160620
In:
Annals of neurology vol. 79
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Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. [electronic resource] by
- Poduri, Annapurna
- Chopra, Sameer S
- Neilan, Edward G
- Elhosary, P Christina
- Kurian, Manju A
- Meyer, Esther
- Barry, Brenda J
- Khwaja, Omar S
- Salih, Mustafa A M
- Stödberg, Tommy
- Scheffer, Ingrid E
- Maher, Eamonn R
- Sahin, Mustafa
- Wu, Bai-Lin
- Berry, Gerard T
- Walsh, Christopher A
- Picker, Jonathan
- Kothare, Sanjeev V
Producer: 20121026
In:
Epilepsia vol. 53
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Diverse impacts of the rs58542926 E167K variant in TM6SF2 on viral and metabolic liver disease phenotypes. [electronic resource] by
- Eslam, Mohammed
- Mangia, Alessandra
- Berg, Thomas
- Chan, Henry Lik Yuen
- Irving, William L
- Dore, Gregory J
- Abate, Maria Lorena
- Bugianesi, Elisabetta
- Adams, Leon A
- Najim, Mustafa A M
- Miele, Luca
- Weltman, Martin
- Mollison, Lindsay
- Cheng, Wendy
- Riordan, Stephen
- Fischer, Janett
- Romero-Gomez, Manuel
- Spengler, Ulrich
- Nattermann, Jacob
- Rahme, Antony
- Sheridan, David
- Booth, David R
- McLeod, Duncan
- Powell, Elizabeth
- Liddle, Christopher
- Douglas, Mark W
- van der Poorten, David
- George, Jacob
Producer: 20170724
In:
Hepatology (Baltimore, Md.) vol. 64
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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. [electronic resource] by
- Perrault, Isabelle
- Saunier, Sophie
- Hanein, Sylvain
- Filhol, Emilie
- Bizet, Albane A
- Collins, Felicity
- Salih, Mustafa A M
- Gerber, Sylvie
- Delphin, Nathalie
- Bigot, Karine
- Orssaud, Christophe
- Silva, Eduardo
- Baudouin, Véronique
- Oud, Machteld M
- Shannon, Nora
- Le Merrer, Martine
- Roche, Olivier
- Pietrement, Christine
- Goumid, Jamal
- Baumann, Clarisse
- Bole-Feysot, Christine
- Nitschke, Patrick
- Zahrate, Mohammed
- Beales, Philip
- Arts, Heleen H
- Munnich, Arnold
- Kaplan, Josseline
- Antignac, Corinne
- Cormier-Daire, Valérie
- Rozet, Jean-Michel
Producer: 20120625
In:
American journal of human genetics vol. 90
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39.
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A variant in the MICA gene is associated with liver fibrosis progression in chronic hepatitis C through TGF-β1 dependent mechanisms. [electronic resource] by
- Sharkawy, Rasha El
- Bayoumi, Ali
- Metwally, Mayada
- Mangia, Alessandra
- Berg, Thomas
- Romero-Gomez, Manuel
- Abate, Maria Lorena
- Irving, William L
- Sheridan, David
- Dore, Gregory J
- Spengler, Ulrich
- Lampertico, Pietro
- Bugianesi, Elisabetta
- Weltman, Martin
- Mollison, Lindsay
- Cheng, Wendy
- Riordan, Stephen
- Santoro, Rosanna
- Gallego-Durán, Rocío
- Fischer, Janett
- Nattermann, Jacob
- D'Ambrosio, Roberta
- McLeod, Duncan
- Powell, Elizabeth
- Latchoumanin, Olivier
- Thabet, Khaled
- Najim, Mustafa A M
- Douglas, Mark W
- Liddle, Christopher
- Qiao, Liang
- George, Jacob
- Eslam, Mohammed
Producer: 20200818
In:
Scientific reports vol. 9
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40.
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Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. [electronic resource] by
- Jen, Joanna C
- Chan, Wai-Man
- Bosley, Thomas M
- Wan, Jijun
- Carr, Janai R
- Rüb, Udo
- Shattuck, David
- Salamon, Georges
- Kudo, Lili C
- Ou, Jing
- Lin, Doris D M
- Salih, Mustafa A M
- Kansu, Tülay
- Al Dhalaan, Hesham
- Al Zayed, Zayed
- MacDonald, David B
- Stigsby, Bent
- Plaitakis, Andreas
- Dretakis, Emmanuel K
- Gottlob, Irene
- Pieh, Christina
- Traboulsi, Elias I
- Wang, Qing
- Wang, Lejin
- Andrews, Caroline
- Yamada, Koki
- Demer, Joseph L
- Karim, Shaheen
- Alger, Jeffry R
- Geschwind, Daniel H
- Deller, Thomas
- Sicotte, Nancy L
- Nelson, Stanley F
- Baloh, Robert W
- Engle, Elizabeth C
Producer: 20040701
In:
Science (New York, N.Y.) vol. 304
Availability: No items available.
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