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1

Myasthénie auto-immune séronégative

Catar, Oana, Aubé-Nathier, Anne-Catherine, Nadaj-Pakleza, Aleksandra

Journal:

médecine/sciences

Year:

2017

Language:

french

File:

PDF, 765 KB

french, 2017

2

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Salort-Campana, Emmanuelle, Nguyen, Karine, Bernard, Rafaelle, Jouve, Elisabeth, Solé, Guilhem, Nadaj-Pakleza, Aleksandra, Niederhauser, Julien, Charles, Estelle, Ollagnon, Elisabeth, Bouhour, Françoi

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 541 KB

english, 2015

3

Permanent muscle weakness in MCArdle disease

Aleksandra A. Nadaj-Pakleza, Carlo M. Vincitorio, Pascal Laforêt, Bruno Eymard, Elisabeth Dion, Susana Teijeira, Irene Vietez, Marc Jeanpierre, Carmen Navarro, Tanya Stojkovic

Journal:

Year:

2009

Language:

english

File:

PDF, 233 KB

english, 2009

4

M.P.4.02 Permanent muscle weakness in McArdle disease

A. Nadaj-Pakleza, C. Vincitorio, P. Laforêt, B. Eymard, S. Teijeira, M. Jeanpierre, C. Navarro, T. Stojkovic

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 62 KB

english, 2007

5

C.P.4.13 A RYR1-linked dominant core myopathy presenting with predominant distal involvement (foot drop): Clinical and morphological variability

B. Ryniewicz-Job, A. Nadaj-Pakleza, M. Beuvin, N. Monnier, A. Ferreiro, A. Kaminska

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 48 KB

english, 2007

6

Rhabdomyolyse sévère sous association atorvastatine–acide fusidique chez un patient dialysé chronique

Lemerle, M., Planchais, M., Nadaj-Pakleza, A., Demiselle, J., Subra, J.F., Besson, V.

Journal:

Néphrologie & Thérapeutique

Year:

2015

Language:

french

File:

PDF, 74 KB

french, 2015

7

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Bohm, J., Chevessier, F., Koch, C., Peche, G. A., Mora, M., Morandi, L., Pasanisi, B., Moroni, I., Tasca, G., Fattori, F., Ricci, E., Penisson-Besnier, I., Nadaj-Pakleza, A., Fardeau, M., Joshi, P. R.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 30.65 MB

english, 2014

8

G.P.1 04 Clinical features and diagnostic tools in adults with debrancher deficiency (glycogen storage disease type III)

A. Nadaj-Pakleza, P. Labrune, C. Wary, J.Y. Hogrel, P. Carlier, M. Gargiulo, A. Herson, B. Eymard, P. Laforêt

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 44 KB

english, 2006

9

Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficulties

Guillet-Pichon, V., Leturcq, F., Claeys, K., Beroud, C., Nadaj-Pakleza, A.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 239 KB

english, 2017

10

M.P.4.07 Investigating GSD type III patients with multi-parametric functional NMR imaging and spectroscopy

C. Wary, A. Nadaj-Pakleza, C. Baligand, A. Monnet, P. Labrune, B. Eymard, P. Laforêt, P. Carlier

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 46 KB

english, 2007

11

OPALE: A patient registry for laminopathies and emerinopathies in France

Yaou, R. Ben, Vigouroux, C., Quijano-Roy, S., Campanna-Salort, E., Cintas, P., Cuisset, J., Juntas-Morales, R., Labombarda, F., Nadaj-Pakleza, A., Pereon, Y., Sole, G., Vantyghem, M., Richard, P., Let

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

12

Effets secondaires inhabituels des immunothérapies dans le cancer bronchique non à petites cellules : à propos de deux cas

de Chabot, G., Justeau, G., Pinquié, F., Nadaj-Pakleza, A., Hoppé, E., Hureaux, J., Urban, T.

Journal:

Revue de Pneumologie Clinique

Year:

2017

Language:

french

File:

PDF, 863 KB

french, 2017

13

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

Tasca, Giorgio, D'Amico, Adele, Monforte, Mauro, Nadaj-Pakleza, Aleksandra, Vialle, Marc, Fattori, Fabiana, Vissing, John, Ricci, Enzo, Bertini, Enrico

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.62 MB

english, 2015

14

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Altmann, Judith, Büchner, Boriana, Nadaj-Pakleza, Aleksandra, Schäfer, Jochen, Jackson, Sandra, Lehmann, Diana, Deschauer, Marcus, Kopajtich, Robert, Lautenschläger, Ronald, Kuhn, Klaus A., Karle, Kat

Journal:

Journal of Neurology

Year:

2016

Language:

english

File:

PDF, 512 KB

english, 2016

15

G.P.11.03 Reduced oxygen availability in muscle of exercising glycogenosis type III patients shown by multi-parametric functional NMR

C. Wary, A. Nadaj-Pakleza, P. Laforêt, A. Monnet, S. Fleury, R. Carlier, C. Baligand, B. Eymard, P. Labrune, P.G. Carlier

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

16

Autophagy impairment in muscle biopsies from debranching enzyme deficiency (GSDIII) patients: pinpointing novel therapeutic perspectives

Malfatti, E., Goillot, E., Streichenberger, N., Leonard-Louis, S., Brochier, G., Madelaine, A., Labasse, C., Nadaj-Pakleza, A., Sacconi, S., Schoser, B., Oldfors, A., Eymard, B., Romero, N., Vissing,

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 253 KB

english, 2017

17

Homozygous C-terminal loss-of-function Na V 1.4 variant in a patient with congenital myasthenic syndrome

Echaniz-Laguna, Andoni, Biancalana, ValÃ©rie, Nadaj-Pakleza, Aleksandra, Fournier, Emmanuel, Matthews, Emma, Hanna, Michael G, MÃ¤nnikkÃ¶, Roope

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2020

File:

PDF, 928 KB

2020

18

G.P.11.04 Pattern and evolution of skeletal muscle involvement in glycogenosis type III (debrancher deficiency): Muscle imaging findings from childhood to adult age

A.A. Nadaj-Pakleza, J. Renoux, P. Carlier, A. Mollet, P. Labrune, A. Behin, B. Eymard, P. Laforet

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

19

Muscle pathology in 31 patients with calpain 3 gene mutations

A. Nadaj-Pakleza, Aleksandra, Dorobek, Małgorzata, Nestorowicz, Klaudia, Ryniewicz, Barbara, Szmidt-Sałkowska, Elżbieta, M. Kamińska, Anna

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2013

File:

PDF, 1.28 MB

2013

20

Prise en charge des maladies neuromusculaires en Réanimation. Étude rétrospective de cohorte au centre hospitalier du Mans

Vallino, Amélie, Bildea, A., Aube-Nathier, A.-C., Nadaj-Pakleza, A.

Journal:

Revue Neurologique

Year:

2017

Language:

french

File:

PDF, 63 KB

french, 2017

21

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Nectoux, Juliette, de Cid, Rafael, Baulande, Sylvain, Leturcq, France, Urtizberea, Jon Andoni, Penisson-Besnier, Isabelle, Nadaj-Pakleza, Aleksandra, Roudaut, Carinne, Criqui, Audrey, Orhant, Lucie, P

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 884 KB

english, 2015

22

Phenotypic spectrum of patients with MERRF and mutations in the MTTK gene

Claeys, K., Altmann, J., Büchner, B., Nadaj-Pakleza, A., Lehmann, D., Schöls, L., Deschauer, M., Jackson, S., Schäfer, J., Lautenschläger, R., Kuhn, A., Schulz, J., Weis, J., Kornblum, C., Klopstock,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

23

Muscle imaging in STIM1-mutated tubular aggregate myopathy patients

Tasca, G., D'Amico, A., Monforte, M., Nadaj-Pakleza, A., Vialle, M., Fattori, F., Vissing, J., Ricci, E., Bertini, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 224 KB

english, 2015

24

Rola biopsji mięśnia szkieletowego w diagnostyce chorób nerwowo-mięśniowych

Nadaj-Pakleza, Aleksandra, Kierdaszuk, Biruta, Kamińska, Anna

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2010

Language:

polish

File:

PDF, 1.46 MB

polish, 2010

25

Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa

Decostre, Valérie, Laforêt, Pascal, De Antonio, Marie, Kachetel, Kahina, Canal, Aurélie, Ollivier, Gwenn, Nadaj-Pakleza, Aleksandra, Petit, François M., Wahbi, Karim, Fayssoil, Abdallah, Eymard, Bruno

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 777 KB

english, 2017

26

DMD & BMD â CLINICAL

De Wel, B., Willaert, S., Nadaj-Pakleza, A., Testelmans, D., Buyse, B., Claeys, K.

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 56 KB

2020

27

Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy

Claire Wary, Aleksandra Nadaj-Pakleza, Pascal Laforêt, Kristl G. Claeys, Robert Carlier, Aurélien Monnet, Servanne Fleury, Céline Baligand, Bruno Eymard, Philippe Labrune, Pierre G. Carlier

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 925 KB

english, 2010

28

Protocole FAMIGREN : fatigue et dysfonction mitochondriale dans le syndrome de Sjögren

Urbanski, G., Letournel, F., Abraham, P., Nadaj-Pakleza, A., Bruneau, A., Chevailler, A., Homedan, C., Reynier, P., Simard, G., Lavigne, C.

Journal:

La Revue de Médecine Interne

Year:

2015

Language:

french

File:

PDF, 64 KB

french, 2015

29

Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene

Codron, P., Pautot, V., Tassin, A., Sternberg, D., Letournel, F., Richard, P., Nadaj-Pakleza, A.

Journal:

Revue Neurologique

Year:

2018

Language:

english

File:

PDF, 888 KB

english, 2018

30

NMP024 Clinical, morphological, and genetic aspects in a family with a LAMP-2 gene mutation (Danon disease)

A. Kostera-Pruszczyk, A. Nadaj-Pakleza, P. Pruszczyk, P. Charron, P. Laforet, P. Richard, A. Kaminska

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 45 KB

english, 2007

31

T.P.41

Decostre, V., Nadaj-Pakleza, A., Ollivier, G., Canal, A., Laforêt, P., Hogrel, J.Y.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

32

Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases

Michon, Claire-Cécile, Gargiulo, Marcela, Hahn-Barma, Valérie, Petit, François, Nadaj-Pakleza, Aleksandra, Herson, Ariane, Eymard, Bruno, Labrune, Philippe, Laforet, Pascal

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 197 KB

english, 2015

33

Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III

Decostre, Valérie, Laforêt, Pascal, Nadaj-Pakleza, Aleksandra, De Antonio, Marie, Leveugle, Sylvain, Ollivier, Gwenn, Canal, Aurélie, Kachetel, Kahina, Petit, François, Eymard, Bruno, Behin, Anthony,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 662 KB

english, 2016

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