Bharucha-Goebel, D.: search on Z-Library

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1

PIEZO2 mediates injury-induced tactile pain in mice and humans

Szczot, Marcin, Liljencrantz, Jaquette, Ghitani, Nima, Barik, Arnab, Lam, Ruby, Thompson, James H., Bharucha-Goebel, Diana, Saade, Dimah, Necaise, Aaron, Donkervoort, Sandra, Foley, A. Reghan, Gordon,

Journal:

Science Translational Medicine

Year:

2018

Language:

english

File:

PDF, 1.61 MB

english, 2018

2

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

Bharucha-Goebel, D. X., Neil, E., Donkervoort, S., Dastgir, J., Wiggs, E., Winder, T. L., Moore, S. A., Iannaccone, S. T., Bonnemann, C. G.

Journal:

Year:

2015

Language:

english

File:

PDF, 171 KB

english, 2015

3

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

Bharucha-Goebel, D. X., Santi, M., Medne, L., Zukosky, K., Dastgir, J., Shieh, P. B., Winder, T., Tennekoon, G., Finkel, R. S., Dowling, J. J., Monnier, N., Bonnemann, C. G.

Journal:

Year:

2013

Language:

english

File:

PDF, 940 KB

english, 2013

4

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation

Karakaya, Mert, Mazaheri, Neda, Polat, Ipek, Bharucha-Goebel, Diana, Donkervoort, Sandra, Maroofian, Reza, Shariati, Gholamreza, Hoelker, Irmgard, Monaghan, Kristin, Winchester, Sara, Zori, Robert, Ga

Journal:

Year:

2017

Language:

english

File:

PDF, 502 KB

english, 2017

5

The clinical outcome study of dysferlinopathy: Muscle MRI pattern at baseline and longitudinal changes over one year

Mori-Yoshimura, M., Fernandez-Torrón, R., Meredith, J., Jabobs, M., Smith, F., Azzabou, N., Manera, J.D., Spuler, S., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., W

Journal:

Journal of the Neurological Sciences

Year:

2017

Language:

english

File:

PDF, 354 KB

english, 2017

6

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Saade, D., Lee, M., Bharucha-Goebel, D., Donkervoort, S., Neuhaus, S., Alter, K., Zampieri, C., Stanley, C., Matsubara, J., Nickolls, A., Micheil Innes, A., Mah, J., Grosmann, C., Nascimento, A., Colo

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

7

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Diaz-Manera, J., Fernández-Torron, R., James, M., Mayhew, A., Jacobs, M., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T.,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 111 KB

english, 2018

8

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Fernandez-Torron, R., Diaz-Manera, J., James, M., Mayhew, A., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T., Mori-Yoshim

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

9

Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathy

Fernandez Torron, R., Harris, E., Bourke, J., Bettinson, K., Hilsden, H., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T.,

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 242 KB

english, 2017

10

Giant axonal neuropathy – clinical trial preparedness and evaluation of markers of disease severity

Bharucha-Goebel, D., Ezzo, D., Jain, M., Waite, M., Nichols, C., Lehky, T., Mohassel, P., Donkervoort, S., Leach, M., Dastgir, J., Marra, J., Zein, W., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

11

HEREDITARY NEUROPATHIES & ALS

Saade, D., Bharucha-Goebel, D., Zein, W., Norato, G., Rybin, D., Cheung, K., Charnas, L., Paredes, E., Inati, S., Foley, A., Gray, S., BÃ¶nnemann, C.

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 61 KB

2020

12

HSP and deafness

Donkervoort, Sandra, Bharucha-Goebel, Diana, Yun, Pomi, Hu, Ying, Mohassel, Payam, Hoke, Ahmet, Zein, Wadih M., Ezzo, Daniel, Atherton, Andrea M., Modrcin, Ann C., Dasouki, Majed, Foley, A. Reghan, Bö

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 1004 KB

english, 2017

13

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations

Qualls, Anita E., Donkervoort, Sandra, Herkert, Johanna C., D'Gama, Alissa M., Bharucha-Goebel, Diana, Collins, James, Chao, Katherine R., Foley, A. Reghan, Schoots, Mirthe H., Jongbloed, Jan D.H., Bö

Journal:

Year:

2018

Language:

english

File:

PDF, 1.84 MB

english, 2018

14

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Neuhaus, S., Hayes, L., Saade, D., Donkervoort, S., Mohassel, P., Dastgir, J., Bharucha-Goebel, D., Leach, M., Vuillerot, C., Iannaccone, S., Grosmann, C., Beggs, A., Foley, A., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

15

HEREDITARY NEUROPATHIES & ALS

Bharucha-Goebel, D., Saade, D., Jain, M., Norato, G., Rybin, D., Cheung, K., Waite, M., Paredes, E., Foley, A., Lehky, T., Hu, Y., Hoyo, R. Calcedo Del, Chichester, J., Jacobson, S., Nath, A., Charnas

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 61 KB

2020

16

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

Hotchkiss, L., Donkervoort, S., Leach, M. E., Mohassel, P., Bharucha-Goebel, D. X., Bradley, N., Nguyen, D., Hu, Y., Gurgel-Giannetti, J., Bo nnemann, C. G.

Journal:

Journal of Child Neurology

Year:

2016

Language:

english

File:

PDF, 484 KB

english, 2016

17

G.P.312

Bharucha-Goebel, D.X., Neil, E., Donkervoort, S., Moore, S., Winder, T., Dastgir, J., Iannaccone, S., Bönnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 48 KB

english, 2014

18

Clinical Outcome Study of Dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?

James, M.K., Jacobs, M., Mayhew, A., Feng, J., Spuler, S., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 19 KB

english, 2018

19

Comparison of two clinical motor scales in individuals with giant axonal neuropathy (GAN)

Waite, M., Bharucha-Goebel, D., Moulton, T., Zampieri, C., Nichols, C., Alter, K., Averion, G., Donkervoort, S., Leach, M., Dastgir, J., Mohassel, P., Jain, M., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 225 KB

english, 2015

20

Clinical outcome study of dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?

James, M., Jacobs, M., Mayhew, A., Feng, J., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver,

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 236 KB

english, 2017

21

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Donkervoort, S., Foley, A.R., Saade, D., Neuhaus, S., Mohassel, P., Bharucha-Goebel, D., Chao, K., Cummings, B., Lek, M., MacArthur, D., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

22

The Clinical Outcome Study for dysferlinopathy

Harris, Elizabeth, Bladen, Catherine L., Mayhew, Anna, James, Meredith, Bettinson, Karen, Moore, Ursula, Smith, Fiona E., Rufibach, Laura, Cnaan, Avital, Bharucha-Goebel, Diana X., Blamire, Andrew M.,

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 666 KB

english, 2016

23

FROM THE SPINAL CORD TO THE MUSCLE

Moore, U., Gordish, H., Maneraz, J. DÃaz, James, M., Mayhew, A., Guglieri, M., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovi

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 56 KB

2020

24

NEW GENES, FUNCTIONS AND BIOMARKERS

Donkervoort, S., Hu, Y., Shieh, P., Koliwer, J., Tsai, L., Cummings, B., Snyder, M., Chao, K., Kaur, R., Bharucha-Goebel, D., Iannaccone, S., MacArthur, D., Foley, A.R., Schwake, M., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

25

CMT AND NEUROGENIC DISEASE

Saade, D., Bharucha-Goebel, D., Norato, G., Foley, A.R., Waite, M., Jain, M., Debs, S., Vasavada, R., Nichols, C., Kaur, R., Donkervoort, S., Neuhaus, S., Hu, Y., Lehky, T., Gray, S., Fink, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

26

Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter

Kahle, K. T., Flores, B., Bharucha-Goebel, D., Zhang, J., Donkervoort, S., Hegde, M., Begum, G., Duran, D., Liang, B., Sun, D., Bonnemann, C. G., Delpire, E.

Journal:

Science Signaling

Year:

2016

Language:

english

File:

PDF, 1.50 MB

english, 2016

27

Serum biomarker discovery for congenital muscular dystrophies

Bharucha-Goebel, D., Collins, J., Hu, Y., Reghan Foley, A., Donkervoort, S., Leach, M., Dastgir, N., Vuillerot, C., Meilleur, K., Jain, M., Waite, M., Jacobson, S., Gordish, H., Rutkowski, A., Hoffman

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

28

Recessive mutation in EXOSC9 disrupts the exosome complex resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy

Donkervoort, S., Müller, J., Knierim, E., Bharucha-Goebel, D., Dyack, S., Burns, D., Hu, Y., Baker, L., Ezzo, D., Scavina, M., Foley, A., Schülke, M., Schülke, M., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 261 KB

english, 2017

29

P.4.9 Variable clinical and histological features in severe congenital RYR1 associated myopathy

Santi, M., Medne, L., Bharucha-Goebel, D., Bonnemann, C., Dastgir, J., Zukosky, K., Shieh, P., Winder, T., Tennekoon, G., Finkel, R., Dowling, J., Monnier, N.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

30

715. Giant Axonal Neuropathy - The Role of Natural History Studies in Gene Transfer Therapy Trial Design

Bharucha-Goebel, Diana, Jain, Minal, Waite, Melissa, Lehky, Tanya, Foley, Reghan, Marra, Jonathan D., Zein, Wadih, Bonnemann, Carsten G.

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 299 KB

english, 2016

31

Giant axonal neuropathy: natural history, outcome measures, and intrathecal AAV9 mediated gene transfer

Bönnemann, C.G., Bharucha-Goebel, D.X., Gray, S.J.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 114 KB

english, 2017

32

NEW THERAPEUTIC APPROACHES AND THEIR READOUT

Saade, D., Bharucha-Goebel, D., Jain, M., Waite, M., Norato, G., Cheung, K., Foley, A.R., Soldatos, A., Rybin, D., Lehky, T., Ying, H., Whitehead, M., Calcedo Del Hoyo, R., Jacobson, S., Leibovitch, E

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 110 KB

english, 2018

33

A recessive mutation in EXOSC9 causes abnormal RNA metabolism resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy

Burns, D.T., Donkervoort, S., Bharucha-Goebel, D.X., Giunta, M., Munro, B., Scavina, M., Foley, R., Müller, J.S., Bönnemann, C.G., Horvath, R.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 114 KB

english, 2017

34

D.P.22 Muscle ultrasound as a consistent imaging marker for RYR1 related myopathies

Dastgir, J., Bharucha-Goebel, D., Medne, L., Donkervoort, S., Meilleur, K., Bonnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

35

Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods

Donkervoort, Sandra, Chan, Sophelia H.S., Hayes, Leslie H., Bradley, Nathaniel, Nguyen, David, Leach, Meganne E., Mohassel, Payam, Hu, Ying, Thangarajh, Mathula, Bharucha-Goebel, Diana, Kan, Amanda, H

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 902 KB

english, 2017

36

Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy

Ortiz-González, Xilma R, Tintos-Hernández, Jesus A, Keller, Kierstin, Li, Xueli, Foley, A. Reghan, Bharucha-Goebel, Diana X, Kessler, Sudha K, Yum, Sabrina W., Crino, Peter B., He, Miao, Wallace, Doug

Journal:

Annals of Neurology

Year:

2017

Language:

english

File:

PDF, 2.36 MB

english, 2017

37

Communication skills among children with spinal muscular atrophy type 1: A parent survey

Ball, Laura J., Chavez, Stephen, Perez, Geovanny, Bharucha-Goebel, Diana, Smart, Kathleen, Kundrat, Katherine, Carruthers, Lauren, Brady, Caitlin, Leach, Meganne, Evans, Sally

Journal:

Assistive Technology

Year:

2019

Language:

english

File:

PDF, 1.42 MB

english, 2019

38

Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy

Tiet, M., Fernandez-Torrón, R., Bourke, J., Bettinson, K., Harris, E., Hilsden, H., Spuler, S., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 33 KB

english, 2018

39

CONGENITAL MYOPATHIES 1 â NEMALINE

Foley, A., Ferranti, S., Saade, D., Mohassel, P., Donkervoort, S., Medne, L., Dastgir, J., Bharucha-Goebel, D., Meilleur, K., Leach, M., Scavina, M., Yum, S., Tennekoon, G., BÃ¶nnemann, C.

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 66 KB

2020

40

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retter

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.51 MB

english, 2018

41

LIMB-GIRDLE MUSCULAR DYSTROPHY I

James, M., Mayhew, A., Jacobs, M., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

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