William J Craigen: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Molecular defects in mitochondrial protein translation machinery

Wang, Jing, Pan, Shujuan, Li, Jianli, Wang, Guoli, Schmitt, Eric S., Peacock, Sandra, Craigen, William, Zhang, Victor W., Wong, Lee-Jun C.

Journal:

Year:

2015

Language:

english

File:

PDF, 43 KB

english, 2015

2

Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy

Hugo R. Martinez, Ricardo Pignatelli, John W. Belmont, William J. Craigen, John L. Jefferies

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 95 KB

english, 2011

3

Clinical and Laboratory Interpretation of Mitochondrial mRNA Variants

Wong, LeeâJun C., Chen, Ting, Schmitt, Eric S., Wang, Jing, Tang, Sha, Landsverk, Megan, Li, Fangyuan, Zhang, Shulin, Wang, Yue, Zhang, Victor Wei, Craigen, William J.

Journal:

Year:

2020

File:

PDF, 588 KB

2020

4

PDHA1 mutations and continued clinical and genetic heterogeneity: Are there gender differences?

Sha Tang, Lisa Emrick, Inn-Chi Lee, Guoli Wang, Fangyuan Li, Shao-Wen Weng, William J. Craigen, Lee-Jun C. Wong

Journal:

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

5

Correction: Interpretation of mitochondrial tRNA variants

Wong, Lee-Jun C., Chen, Ting, Wang, Jing, Tang, Sha, Schmitt, Eric S., Landsverk, Megan, Li, Fangyuan, Wang, Yue, Zhang, Shulin, Zhang, Victor Wei, Craigen, William J.

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 196 KB

2020

6

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome

El-Hattab, Ayman W., Emrick, Lisa T., Williamson, Kaitlin C., Craigen, William J., Scaglia, Fernando

Journal:

Year:

2013

Language:

english

File:

PDF, 123 KB

english, 2013

7

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

Qin, Lan, Wang, Jing, Tian, Xia, Yu, Hui, Truong, Cavatina, Mitchell, John J., Wierenga, Klaas J., Craigen, William J., Zhang, Victor Wei, Wong, Lee-Jun C.

Journal:

The Journal of Molecular Diagnostics

Year:

2016

Language:

english

File:

PDF, 2.09 MB

english, 2016

8

Nitric oxide production in subjects with MELAS syndrome and the effect of arginine and citrulline supplementation: Interim results

Ayman El-Hattab⁎, William Craigen, Lee-Jun Wong, Farook Jahoor, Fernando Scaglia

Journal:

Year:

2011

Language:

english

File:

PDF, 59 KB

english, 2011

9

OEIS complex associated with chromosome 1p36 deletion: A case report and review

Ayman W. El-Hattab, Josh C. Skorupski, Michael H. Hsieh, Amy M Breman, Ankita Patel, Sau Wai Cheung, William J. Craigen

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 174 KB

english, 2010

10

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review

Pilar L. Magoulas, Ayman W. El-Hattab, Angshumoy Roy, Deeksha S. Bali, Milton J. Finegold, William J. Craigen

Journal:

Human Pathology

Year:

2012

Language:

english

File:

PDF, 1.92 MB

english, 2012

11

Exome sequencing and functional biology reveal novel mitochondrial disease genes

Penelope E. Bonnen, Arnaud Besse, Tarak Donti, Adithya Raghavan, Seema Lalani, Fernando Scaglia, William J. Craigen, Brett H. Graham

Journal:

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

12

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

Eduard A. Struys, Gajja S. Salomons, Younes Achouri, Emile Van Schaftingen, Salvatore Grosso, William J. Craigen, Nanda M. Verhoeven, Cornelis Jakobs

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 153 KB

english, 2005

13

Correction: Interpretation of mitochondrial tRNA variants

Wong, Lee-Jun C., Chen, Ting, Wang, Jing, Tang, Sha, Schmitt, Eric S., Landsverk, Megan, Li, Fangyuan, Wang, Yue, Zhang, Shulin, Zhang, Victor Wei, Craigen, William J.

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 180 KB

2020

14

78 MPV17—Associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations

Ayman W. El-Hattab, Fang-Yuan Li, Eric Schmitt, Shulin Zhang, William Craigen, Lee-Jun Wong

Journal:

Year:

2010

Language:

english

File:

PDF, 42 KB

english, 2010

15

First tier molecular diagnosis of mitochondrial disorders — The experience of a mitochondrial diagnostic laboratory pre‐NextGen era

Sha Tang, Jing Wang, Fangyuan Li, Victor Wei Zhang, Megan Landsverk, Hong Cui, Cavatina K. Truong, Guoli Wang, Eric S. Schmitt, William J. Craigen, Lee-Jun C. Wong

Journal:

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

16

Tissue-dependent alterations in lipid mass in mice lacking glycerol kinase

Mikhail Y. Golovko, Johnathan T. Hovda, Zong-Jin Cai, William J. Craigen, Eric J. Murphy

Journal:

Year:

2005

Language:

english

File:

PDF, 87 KB

english, 2005

17

Voltage-dependent anion channels are dispensable for mitochondrial-dependent cell death

Baines, Christopher P., Kaiser, Robert A., Sheiko, Tatiana, Craigen, William J., Molkentin, Jeffery D.

Journal:

Nature Cell Biology

Year:

2007

Language:

english

File:

PDF, 1.48 MB

english, 2007

18

Paternal Isodisomy of Chromosome 7 Associated with Complete Situs Inversus and Immotile Cilia

Yanzhen Pan, Christopher D. McCaskill, Katherine H. Thompson, John Hicks, Brett Casey, Lisa G. Shaffer, William J. Craigen

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 117 KB

english, 1998

19

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

El-Hattab, Ayman W., Emrick, Lisa T., Hsu, Jean W., Chanprasert, Sirisak, Jahoor, Farook, Scaglia, Fernando, Craigen, William J.

Journal:

Year:

2014

Language:

english

File:

PDF, 684 KB

english, 2014

20

Systemic hypertension in two patients with ASL deficiency: A result of nitric oxide deficiency?

Nicola Brunetti-Pierri, Ayelet Erez, Oleg Shchelochkov, William Craigen, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 138 KB

english, 2009

21

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene

Chanprasert, Sirisak, Wang, Jing, Weng, Shao-Wen, Enns, Gregory M., Boué, Daniel R., Wong, Brenda L., Mendell, Jerry R., Perry, Deborah A., Sahenk, Zarife, Craigen, William J., Alcala, Francisco J. Cl

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.20 MB

english, 2013

22

Bacterial Peptide Chain Release Factors: Conserved Primary Structure and Possible Frameshift Regulation of Release Factor 2

William J. Craigen, Richard G. Cook, Warren P. Tate and C. Thomas Caskey

Journal:

Proceedings of the National Academy of Sciences

Year:

1985

Language:

english

File:

PDF, 1.41 MB

english, 1985

23

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

El-Hattab, Ayman W., Emrick, Lisa T., Hsu, Jean W., Chanprasert, Sirisak, Almannai, Mohammed, Craigen, William J., Jahoor, Farook, Scaglia, Fernando

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 656 KB

english, 2016

24

The Tissue-Specific, Alternatively Spliced Single ATG Exon of the Type 3 Voltage-Dependent Anion Channel Gene Does Not Create a Truncated Protein Isoform in Vivo

William K. Decker, William J. Craigen

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 82 KB

english, 2000

25

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

Craigen, William J, Graham, Brett H, Wong, Lee-Jun, Scaglia, Fernando, Lewis, Richard, Bonnen, Penelope E

Journal:

BMC Medical Genetics

Year:

2013

Language:

english

File:

PDF, 247 KB

english, 2013

26

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes

Comeaux, Matthew S., Wang, Jing, Wang, Guoli, Kleppe, Soledad, Zhang, Victor Wei, Schmitt, Eric S., Craigen, William J., Renaud, Deborah, Sun, Qin, Wong, Lee-Jun

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.02 MB

english, 2013

27

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

Szafranski, Przemyslaw, Golla, Sailaja, Jin, Weihong, Fang, Ping, Hixson, Patricia, Matalon, Reuben, Kinney, Daniel, Bock, Hans-georg, Craigen, William, Smith, Janice L, Bi, Weimin, Patel, Ankita, Wai

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 849 KB

english, 2015

28

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

Rivera-Muñoz, Edgar A., Milko, Laura V., Harrison, Steven M., Azzariti, Danielle R., Kurtz, C. Lisa, Lee, Kristy, Mester, Jessica L., Weaver, Meredith A., Currey, Erin, Craigen, William, Eng, Charis,

Journal:

Year:

2018

Language:

english

File:

PDF, 443 KB

english, 2018

29

Response to Bai et al.

Wong, Lee-Jun C., Chen, Ting, Schmitt, Eric S., Wang, Jing, Zhang, Shulin, Landsverk, Megan, Li, Fangyuan, Tang, Sha, Wang, Yue, Zhang, Victor Wei, Craigen, William J.

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 244 KB

2020

30

1: ACTIVATION OF POLY(ADP-RIBOSE) POLYMERASE-1 CONTRIBUTES TO NAD+ DEPLETION AND IMPAIRED NAD+ DEPENDENT MITOCHONDRIAL RESPIRATION FOLLOWING STATUS EPILEPTICUS

Lai, Yi-Chen, Searle, Rebecca, Craigen, William, Anderson, Anne

Journal:

Critical Care Medicine

Year:

2011

Language:

english

File:

PDF, 1.90 MB

english, 2011

31

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations

Ayman W. El-Hattab, Fang-Yuan Li, Eric Schmitt, Shulin Zhang, William J. Craigen, Lee-Jun C. Wong

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 324 KB

english, 2010

32

A mouse model of argininosuccinic aciduria: biochemical characterization

V Reid Sutton, Yanzhen Pan, Erica C Davis, William J Craigen

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 150 KB

english, 2003

33

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka, Delgado, Mauricio R., Shinawi, Marwan, Pearson, Toni S., Lalani, Seema R., Craigen, William E., Sutton, V. Reid, Evans, Anne M., Sun, Qin, Emrick, Lis

Journal:

Frontiers in Neuroscience

Year:

2019

Language:

english

File:

PDF, 1.17 MB

english, 2019

34

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q

Amy M. Breman, Frank J. Probst, Maria A. Blazo, Christian P. Schaaf, Erin K. Roney, William J. Craigen, Carlos A. Bacino, Sau Wai Cheung

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.26 MB

english, 2011

35

SURF1-associated leigh syndrome: A case series and novel mutations

Inn-Chi Lee, Ayman W. El-Hattab, Jing Wang, Fang-Yuan Li, Shao-Wen Weng, William J. Craigen, Lee-Jun C. Wong

Journal:

Year:

2012

Language:

english

File:

PDF, 369 KB

english, 2012

36

Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locus

Weiwen Guo, Rhonda S. Lovell, Yao-Hua Zhang, Bing-Ling Huang, Thomas P. Burris, William J. Craigen, Edward R.B. McCabe

Journal:

Year:

1996

Language:

english

File:

PDF, 468 KB

english, 1996

37

30-year follow-up of a patient with classic citrullinemia

Nicola Brunetti-Pierri, Kerri M. Lamance, Richard Alan Lewis, William J. Craigen

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 140 KB

english, 2012

38

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant

Donti, Taraka R., Masand, Ruchi, Scott, Daryl A., Craigen, William J., Graham, Brett H.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 741 KB

english, 2016

39

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Johnston, Jennifer J, van der Smagt, Jasper J, Rosenfeld, Jill A, Pagnamenta, Alistair T, Alswaid, Abdulrahman, Baker, Eva H, Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, V

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1.24 MB

english, 2018

40

Genetic strategies for dissecting mammalian andDrosophilavoltage-dependent anion channel functions

William J. Craigen, Brett H. Graham

Journal:

Journal of Bioenergetics and Biomembranes

Year:

2008

Language:

english

File:

PDF, 121 KB

english, 2008

41

Cloning and Characterization of a Putative Human d-2-Hydroxyacid Dehydrogenase in Chromosome 9q

Taosheng Huang, Wenxue Yang, Alexander C. Pereira, William J. Craigen, Vivian E. Shih

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 118 KB

english, 2000

42

Bak/bax-dependent Apoptotic Signaling In Vdac2-/- Cells

Roy, Soumya Sinha, Craigen, William J., Hajnoczky, Gyorgy

Journal:

Biophysical Journal

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

43

VDAC1 serves as a mitochondrial binding site for hexokinase in oxidative muscles

Keltoum Anflous-Pharayra, Zong-Jin Cai, William J. Craigen

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2007

Language:

english

File:

PDF, 316 KB

english, 2007

44

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynba

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 1.06 MB

2020

45

Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis

William K. Decker, Karla R. Bowles, Edward C. Schatte, Jeffrey A. Towbin, William J. Craigen

Journal:

Mammalian Genome

Year:

1999

Language:

english

File:

PDF, 208 KB

english, 1999

46

Two familial cases of high blood galactose of unknown aetiology

Nicola Brunetti-Pierri, Antone R. Opekun, William J. Craigen

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 128 KB

english, 2006

47

Alu-specific microhomology-mediated deletions inCDKL5in females with early-onset seizure disorder

Ayelet Erez, Amina J. Patel, Xueqing Wang, Zhilian Xia, Samarth S. Bhatt, William Craigen, Sau Wai Cheung, Richard A. Lewis, Ping Fang, Sandra L. H. Davenport, Pawel Stankiewicz, Seema R. Lalani

Journal:

Year:

2009

Language:

english

File:

PDF, 299 KB

english, 2009

48

Current molecular diagnostic algorithm for mitochondrial disorders

Lee-Jun C. Wong, Fernando Scaglia, Brett H. Graham, William J. Craigen

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 220 KB

english, 2010

49

A maxi-chloride channel in the inner membrane of mammalian mitochondria

Umberto De Marchi, Ildikò Szabò, Grazia M. Cereghetti, Pranvera Hoxha, William J. Craigen, Mario Zoratti

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2008

Language:

english

File:

PDF, 1.08 MB

english, 2008

50

Glucose kinetics in subjects with MELAS syndrome: Interim results

Ayman W. El-Hattab, Lisa Emrick, Jean W.C. Hsu, Farook Jahoor, Fernando Scaglia, William Craigen

Journal:

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски