Volume 3; Issue 1

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Rare Diseases
Volume 3; Issue 1

Rare Diseases

Volume 3; Issue 1

1

The immune system in Duchenne muscular dystrophy: Friend or foe

Villalta, S Armando, Rosenberg, Amy S, Bluestone, Jeffrey A

Journal:

Year:

2015

Language:

english

File:

PDF, 1.02 MB

english, 2015

2

Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C

Pshezhetsky, Alexey V

Journal:

Year:

2015

Language:

english

File:

PDF, 1.12 MB

english, 2015

3

Ribosomopathies: Global process, tissue specific defects

Yelick, Pamela C, Trainor, Paul A

Journal:

Year:

2015

Language:

english

File:

PDF, 168 KB

english, 2015

4

Macrophage migration inhibitory factor as a component of selective vulnerability of motor neurons in ALS

Abu-Hamad, Salah, Israelson, Adrian

Journal:

Year:

2015

Language:

english

File:

PDF, 756 KB

english, 2015

5

Huntington's disease is a multi-system disorder

Mielcarek, Michal

Journal:

Year:

2015

Language:

english

File:

PDF, 471 KB

english, 2015

6

Human iPS cell models of Jervell and Lange-Nielsen syndrome

Bellin, Milena, Greber, Boris

Journal:

Year:

2015

Language:

english

File:

PDF, 559 KB

english, 2015

7

The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras V14I

Hernández-Porras, Isabel, Jiménez-Catalán, Beatriz, Schuhmacher, Alberto J, Guerra, Carmen

Journal:

Year:

2015

Language:

english

File:

PDF, 690 KB

english, 2015

8

Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation

McDermott, David H, Gao, Ji-Liang, Murphy, Philip M

Journal:

Year:

2015

Language:

english

File:

PDF, 663 KB

english, 2015

9

Pompe disease: Shared and unshared features of lysosomal storage disorders

Lim, Jeong-A, Kakhlon, Or, Li, Lishu, Myerowitz, Rachel, Raben, Nina

Journal:

Year:

2015

Language:

english

File:

PDF, 432 KB

english, 2015

10

Corrigendum

Journal:

Year:

2015

Language:

english

File:

PDF, 363 KB

english, 2015

11

Developing methodology for the creation of clinical practice guidelines for rare diseases: A report from RARE-Bestpractices

Pai, Menaka, Iorio, Alfonso, Meerpohl, Joerg, Taruscio, Domenica, Laricchiuta, Paola, Mincarone, Pierpaolo, Morciano, Cristina, Leo, Carlo Giacomo, Sabina, Saverio, Akl, Elie, Treweek, Shaun, Djulbego

Journal:

Year:

2015

Language:

english

File:

PDF, 499 KB

english, 2015

12

A unified model for the molecular basis of Xeroderma pigmentosum -Cockayne Syndrome

Moriel-Carretero, María, Herrera-Moyano, Emilia, Aguilera, Andrés

Journal:

Year:

2015

Language:

english

File:

PDF, 768 KB

english, 2015

13

New insights into the metabolic and nutritional determinants of severe combined immunodeficiency

Field, Martha S, Kamynina, Elena, Watkins, David, Rosenblatt, David S, Stover, Patrick J

Journal:

Year:

2015

Language:

english

File:

PDF, 515 KB

english, 2015

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