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1

Spinal Muscular Atrophy: New and Emerging Insights from Model Mice

Gyu-Hwan Park, Shingo Kariya, Umrao R. Monani

Journal:

Current Neurology and Neuroscience Reports

Year:

2010

Language:

english

File:

PDF, 225 KB

english, 2010

2

Expression of the survival of motor neuron (SMN) gene in primary neurons and increase in SMN levels by activation of theN-methyl-D-aspartate glutamate receptor

Monani, Umrao, A., Burghes, Andreassi, Catia, Patrizi, Anna, Brahe, Christina, Eboli, Maria

Journal:

Year:

2002

Language:

english

File:

PDF, 130 KB

english, 2002

3

Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT)

Umrao R. Monani, John D. McPherson, Arthur H.M. Burghes

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1999

Language:

english

File:

PDF, 453 KB

english, 1999

4

The neuroprotective factor Wlds fails to mitigate distal axonal and neuromuscular junction (NMJ) defects in mouse models of spinal muscular atrophy

Shingo Kariya, Rina Mauricio, Ya Dai, Umrao R. Monani

Journal:

Neuroscience Letters

Year:

2009

Language:

english

File:

PDF, 2.85 MB

english, 2009

5

Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease

Umrao R. Monani

Journal:

Year:

2005

Language:

english

File:

PDF, 325 KB

english, 2005

6

Spinal Muscular Atrophy: Journeying From Bench to Bedside

Awano, Tomoyuki, Kim, Jeong-Ki, Monani, Umrao R.

Journal:

Neurotherapeutics

Year:

2014

Language:

english

File:

PDF, 491 KB

english, 2014

7

A Transgene Carrying an A2G Missense Mutation in the SMN Gene Modulates Phenotypic Severity in Mice with Severe (Type I) Spinal Muscular Atrophy

Umrao R. Monani, Matthew T. Pastore, Tatiana O. Gavrilina, Sibylle Jablonka, Thanh T. Le, Catia Andreassi, Jennifer M. DiCocco, Christian Lorson, Elliot J. Androphy, Michael Sendtner, Michael Podell a

Journal:

The Journal of Cell Biology

Year:

2003

Language:

english

File:

PDF, 2.51 MB

english, 2003

8

Smn, the Spinal Muscular Atrophy-Determining Gene Product, Modulates Axon Growth and Localization of β-Actin mRNA in Growth Cones of Motoneurons

Wilfried Rossoll, Sibylle Jablonka, Catia Andreassi, Ann-Kathrin Kröning, Kathrin Karle, Umrao R. Monani and Michael Sendtner

Journal:

The Journal of Cell Biology

Year:

2003

Language:

english

File:

PDF, 2.52 MB

english, 2003

9

Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond

Monani, Umrao R, De Vivo, Darryl C

Journal:

Future Neurology

Year:

2014

Language:

english

File:

PDF, 2.36 MB

english, 2014

10

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

Harding, Brian N., Kariya, Shingo, Monani, Umrao R., Chung, Wendy K., Benton, Maryjane, Yum, Sabrina W., Tennekoon, Gihan, Finkel, Richard S.

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2015

Language:

english

File:

PDF, 5.77 MB

english, 2015

11

Knockdown of the Survival Motor Neuron (Smn) Protein in Zebrafish Causes Defects in Motor Axon Outgrowth and Pathfinding

Michelle L. McWhorter, Umrao R. Monani, Arthur H. M. Burghes and Christine E. Beattie

Journal:

The Journal of Cell Biology

Year:

2003

Language:

english

File:

PDF, 3.72 MB

english, 2003

12

Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice

Kim, Jeong-Ki, Caine, Charlotte, Awano, Tomoyuki, Herbst, Ruth, Monani, Umrao R.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.54 MB

english, 2017

13

A pathogenic S250F missense mutation results in a mouse model of mild aromatic L-amino acid decarboxylase (AADC) deficiency.

Caine, Charlotte, Shohat, Meytal, Kim, Jeong-Ki, Nakanishi, Koki, Homma, Shunichi, Mosharov, Eugene V., Monani, Umrao R.

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 2.13 MB

english, 2017

14

Augmenting the SMN Protein to Treat Infantile Spinal Muscular Atrophy

Kim, Jeong-Ki, Monani, Umrao R.

Journal:

Year:

2018

Language:

english

File:

PDF, 633 KB

english, 2018

15

Limited Phenotypic Effects of Selectively Augmenting the SMN Protein in the Neurons of a Mouse Model of Severe Spinal Muscular Atrophy

Lee, Andrew J-H., Awano, Tomoyuki, Park, Gyu-Hwan, Monani, Umrao R., Gillingwater, Thomas H.

Journal:

Year:

2012

Language:

english

File:

PDF, 3.02 MB

english, 2012

16

Motor neuron biology and disease: a current perspective on infantile-onset spinal muscular atrophy

Jha, Narendra N, Kim, Jeong-Ki, Monani, Umrao R

Journal:

Future Neurology

Year:

2018

Language:

english

File:

PDF, 2.02 MB

english, 2018

17

Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron ( SMN ) gene.

Majumder, Sarmila, Varadharaj, Saradhadevi, Ghoshal, Kalpana, Monani, Umrao, Burghes, Arthur H. M., Jacob, Samson T.

Journal:

Journal of Biological Chemistry

Year:

2018

Language:

english

File:

PDF, 53 KB

english, 2018

18

Therapeutic strategies for glucose transporter 1 deficiency syndrome

Tang, Maoxue, Park, Sarah H., De Vivo, Darryl C., Monani, Umrao R.

Journal:

Annals of Clinical and Translational Neurology

Year:

2019

Language:

english

File:

PDF, 3.96 MB

english, 2019

19

Therapeutic strategies for glucose transporter 1 deficiency syndrome

Tang, Maoxue, Park, Sarah H., De Vivo, Darryl C., Monani, Umrao R.

Journal:

Annals of Clinical and Translational Neurology

Year:

2019

File:

PDF, 3.96 MB

2019