E-LIB Suche - Ergebnisse für: Lía Taratuto, Ana

1

A 36‐year‐old man with headache and fever:

Riudavets, Miguel A. ; Lía Taratuto, Ana ; Pelorosso, Facundo.
Brain Pathology. 28 (2018) 4 - p. 581-582 , 2018

Link: https://doi.org/10.1111/..

2

SIL1 mutations and clinical spectrum in patients with Marin..:

Krieger, Michael ; Roos, Andreas ; Stendel, Claudia...
Brain. 136 (2013) 12 - p. 3634-3644 , 2013

Link: https://doi.org/10.1093/..

3

Early onset collagen VI myopathies: Genetic and clinical co..:

Briñas, Laura ; Richard, Pascale ; Quijano‐Roy, Susana...
Annals of Neurology. 68 (2010) 4 - p. 511-520 , 2010

Link: https://doi.org/10.1002/..

4

POMT2 intragenic deletions and splicing abnormalities causi..:

Yanagisawa, Akiko ; Bouchet, Céline ; Quijano-Roy, Susana...
European Journal of Medical Genetics. 52 (2009) 4 - p. 201-206 , 2009

Link: https://doi.org/10.1016/..

5

Dystrophin expression in duchenne (DMD) and becker (BMD) mu..:

Lia Taratuto, Ana ; Sevlever, Gustavo ; Schultz, Marcelo..
Pediatric Neurology. 8 (1992) 5 - p. 407 , 1992

Link: https://doi.org/10.1016/..

6

Severe ACTA1-related nemaline myopathy: intranuclear rods, ..:

Labasse, Clémence ; Brochier, Guy ; Taratuto, Ana-Lia...
Acta Neuropathologica Communications. 10 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

7

Clinical and molecular characterization of mitochondrial DN..:

Loos, Mariana Amina ; Gomez, Gimena ; Mayorga, Lía...
Molecular Genetics and Metabolism Reports. 27 (2021) - p. 100733 , 2021

Link: https://doi.org/10.1016/..

8

Vasculitic Peripheral Neuropathy, differences between Syste..:

Castiglione, Juan ; Marrodan, Mariano ; Taratuto, Ana Lia...
Neurology. 92 (2019) 15_supplement - p. , 2019

Link: https://doi.org/10.1212/..

9

HNRNPDL-related muscular dystrophy: expanding the clinical,..:

Berardo, Andrés ; Lornage, Xavière ; Johari, Mridul...
Journal of Neurology. 266 (2019) 10 - p. 2524-2534 , 2019

Link: https://doi.org/10.1007/..

10

'Dusty core disease' (DuCD): expanding morphological spectr..:

Garibaldi, Matteo ; Rendu, John ; Brocard, Julie...
Acta Neuropathologica Communications. 7 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

11

Loss of Sarcomeric Scaffolding as a Common Baseline Histopa..:

Ávila-Polo, Rainiero ; Malfatti, Edoardo ; Lornage, Xavière...
Journal of Neuropathology & Experimental Neurology. 77 (2018) 12 - p. 1101-1114 , 2018

Link: https://doi.org/10.1093/..

12

Catherine Daumas-Duport, MD, PhD:

De Girolami, Umberto ; Chimelli, Leila ; Taratuto, Ana Lia
Journal of Neuropathology & Experimental Neurology. 77 (2017) 1 - p. 84-84 , 2017

Link: https://doi.org/10.1093/..

13

ADULT ONSET HEREDITARY DIFFUSE LEUCOENCEPHALOPATHY WITH AXO..:

TKACHUK, VERONICA ANALIA ; Pacio, Gisele ; BUSTOS, ARIEL...
Neurology. 88 (2017) 16_supplement - p. , 2017

Link: https://doi.org/10.1212/..

14

DIAGNOSIS OF MITOCHONDRIAL DISEASES: UTILITY OF A CLINICAL-..:

Rosales, Julieta ; Medina, Nancy ; Martinez, Nerina...
Neurology. 88 (2017) 16_supplement - p. , 2017

Link: https://doi.org/10.1212/..

15

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopath:

Schartner, Vanessa ; Romero, Norma B. ; Donkervoort, Sandra...
Acta Neuropathologica. 133 (2016) 4 - p. 517-533 , 2016

Link: https://doi.org/10.1007/..