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1

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood

Degos, Bertrand, Nadjar, Yann, Amador, Maria del Mar, Lamari, Foudil, Sedel, Frédéric, Roze, Emmanuel, Couvert, Philippe, Mochel, Fanny

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 500 KB

english, 2016

2

Gastrostomie dans les syndromes parkinsoniens : étude rétrospective sur les indications de sa mise en place et l’évolution des patients

Marois, Clémence, Amador, Maria Del Mar, Payan, Christine, Lacomblez, Lucette, Mesnage, Valérie, Grabli, David

Journal:

Revue Neurologique

Year:

2016

Language:

french

File:

PDF, 60 KB

french, 2016

3

Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS

Amador, Maria-Del-Mar, Muratet, François, Teyssou, Elisa, Banneau, Guillaume, Danel-Brunaud, Véronique, Allart, Etienne, Antoine, Jean-Christophe, Camdessanché, Jean-Philippe, Anheim, Mathieu, Rudolf,

Journal:

Neurology: Genetics

Year:

2019

File:

PDF, 475 KB

2019

4

Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes

del Mar Amador, Maria, Masingue, Marion, Debs, Rabab, Lamari, Foudil, Perlbarg, Vincent, Roze, Emmanuel, Degos, Bertrand, Mochel, Fanny

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 2.19 MB

english, 2018

5

The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

Querin, Giorgia, El Mendili, Mohamed-Mounir, Lenglet, Timothée, Behin, Anthony, Stojkovic, Tanya, Salachas, François, Devos, David, Le Forestier, Nadine, del Mar Amador, Maria, Debs, Rabab, Lacomblez,

Journal:

NeuroImage: Clinical

Year:

2018

File:

PDF, 1.70 MB

2018

6

Infección por virus de Chikungunya en una viajera española

Concepción Amador Prous, María del Mar López-Perezagua, Francisco Javier Arjona Zaragozí, Carmen Martínez-Peinado

Journal:

Medicina Clínica

Year:

2007

File:

PDF, 59 KB

2007

7

Cerebrospinal fluid metabolomics highlights dysregulation of energy metabolism in overt hepatic encephalopathy

Weiss, Nicolas, Hilaire, Pierre Barbier Saint, Colsch, Benoit, Isnard, Foucauld, Attala, Suleiman, Schaefer, Augustin, Amador, Maria del Mar, Rudler, Marika, Lamari, Foudil, Sedel, Frédéric, Thabut, D

Journal:

Journal of Hepatology

Year:

2016

Language:

english

File:

PDF, 697 KB

english, 2016

8

Outcome of gastrostomy in parkinsonism: A retrospective study

Marois, Clémence, Amador, Maria Del Mar, Payan, Christine, Lacomblez, Lucette, Bonnet, Anne-Marie, Degos, Bertrand, Corvol, Jean-Christophe, Vidailhet, Marie, Le Forestier, Nadine, Mesnage, Valérie, G

Journal:

Parkinsonism & Related Disorders

Year:

2017

File:

PDF, 472 KB

2017

9

Cursive Eye-Writing With Smooth-Pursuit Eye-Movement Is Possible in Subjects With Amyotrophic Lateral Sclerosis

Lenglet, Timothée, Mirault, Jonathan, Veyrat-Masson, Marie, Funkiewiez, Aurélie, Amador, Maria del Mar, Bruneteau, Gaelle, Le Forestier, Nadine, Pradat, Pierre-Francois, Salachas, Francois, Vacher, Ya

Journal:

Frontiers in Neuroscience

Year:

2019

Language:

english

File:

PDF, 1.77 MB

english, 2019

10

Predictive factors for prognosis after gastrostomy placement in routine non-invasive ventilation users ALS patients

Hesters, AdÃ¨le, Amador, Maria del Mar, Debs, Rabab, Le Forestier, Nadine, Lenglet, TimothÃ©e, Pradat, Pierre-FranÃ§ois, Salachas, FranÃ§ois, Faure, Morgane, Jimenez, Maria-Alejandra Galarza, Gonzalez

Journal:

Scientific Reports

Year:

2020

File:

PDF, 971 KB

2020

11

Four-dimensional digital subtraction angiography for exploration of spinal cord vascular malformations: preliminary experience

ClarenÃ§on, FrÃ©dÃ©ric, Lenck, StÃ©phanie, Shotar, Eimad, Boch, Anne-Laure, Lefevre, Etienne, Premat, Kevin, Amador, Maria Del Mar, Sourour, Nader-Antoine

Journal:

Journal of NeuroInterventional Surgery

Year:

2020

File:

PDF, 1.84 MB

2020

12

Pure cerebellar ataxia linked to large C9orf72 repeat expansion

Corcia, Philippe, Vourc’h, Patrick, Guennoc, Anne-Marie, Del Mar Amador, Maria, Blasco, Hélène, Andres, Christian, Couratier, Philippe, Gordon, Paul H., Meininger, Vincent

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Year:

2016

Language:

english

File:

PDF, 569 KB

english, 2016

13

Histoire naturelle de la xanthomatose cérébrotendineuse : une pathologie pédiatrique diagnostiquée à l’âge adulte

Nadjar, Yann, Couvert, Philippe, Lamari, Foudil, Amador, Maria Del Mar, Flamand-Roze, Emmanuel, Degos, Bertrand, Mochel, Fanny

Journal:

Revue Neurologique

Year:

2015

Language:

french

File:

PDF, 286 KB

french, 2015

14

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease

Verdura, Edgard, Hervé, Dominique, Scharrer, Eva, Amador, Maria del Mar, Guyant-Maréchal, Lucie, Philippi, Anne, Corlobé, Astrid, Bergametti, Françoise, Gazal, Steven, Prieto-Morin, Carol, Beaufort, N

Journal:

Year:

2015

Language:

english

File:

PDF, 784 KB

english, 2015

15

Radiotherapy treatment of sialorrhea in patients with amyotrophic lateral sclerosis requiring non-invasive ventilation

Amador, Maria del Mar, Assouline, Avi, Gonzalez-Bermejo, Jésus, Pradat, Pierre-François

Journal:

Journal of Neurology

Year:

2015

Language:

english

File:

PDF, 425 KB

english, 2015

16

Involvement of peripheral III nerve in multiple sclerosis patient: Report of a new case and discussion of the underlying mechanism

Shor, Natalia, Amador, Maria del Mar, Dormont, Didier, Lubetzki, Catherine, Bertrand, Anne

Journal:

Multiple Sclerosis Journal

Year:

2017

Language:

english

File:

PDF, 546 KB

english, 2017

17

Genetic screening of ANXA11 revealed novel mutations linked to Amyotrophic Lateral Sclerosis

Teyssou, Elisa, Muratet, FranÃ§ois, Amador, Maria-Del-Mar, Ferrien, MÃ©lanie, Lautrette, GÃ©raldine, Machat, Selma, BoillÃ©e, SÃ©verine, Larmonier, Thierry, Saker, Safaa, Leguern, Eric, Cazeneuve, CÃ©

Journal:

Neurobiology of Aging

Year:

2020

File:

PDF, 2.46 MB

2020

18

Epidemiology of urinary tract infections caused by extended-spectrum beta-lactamase-producing Escherichia coli

Javier Ena, Francisco Arjona, Carmen Martínez-Peinado, Maria del mar López-Perezagua, Concepción Amador

Journal:

Year:

2006

Language:

english

File:

PDF, 111 KB

english, 2006

19

Myoclonies d’action et protéinurie modérée isolée : penser SCARB2

Gross, Marie-Laure, Doé De Maindreville, Anne, Amador, Maria Del Mar, Grabli, David, Thiriaux, Anne, Vidailhet, Marie-José, Flamand-Roze, Emmanuel

Journal:

Revue Neurologique

Year:

2018

Language:

french

File:

PDF, 226 KB

french, 2018

20

A Clostridium difficile Lineage Endemic to Costa Rican Hospitals Is Multidrug Resistant by Acquisition of Chromosomal Mutations and Novel Mobile Genetic Elements

Ramírez-Vargas, Gabriel, Quesada-Gómez, Carlos, Acuña-Amador, Luis, López-Ureña, Diana, Murillo, Tatiana, del Mar Gamboa-Coronado, María, Chaves-Olarte, Esteban, Thomson, Nicholas, Rodríguez-Cavallini

Journal:

Antimicrobial Agents and Chemotherapy

Year:

2017

Language:

english

File:

PDF, 2.07 MB

english, 2017

21

Targeted versus untargeted omics — the CAFSA story

del Mar Amador, Maria, Colsch, Benoit, Lamari, Foudil, Jardel, Claude, Ichou, Farid, Rastetter, Agnès, Sedel, Frédéric, Jourdan, Fabien, Frainay, Clément, Wevers, Ronald A., Roze, Emmanuel, Depienne,

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 1.38 MB

english, 2018

22

Cat Bite: An Unusual Cause of Foot Drop

Amador, Maria del Mar, Bruneteau, Gaëlle, Degos, Bertrand

Journal:

The American Journal of Medicine

Year:

2016

Language:

english

File:

PDF, 540 KB

english, 2016

23

Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: a dysregulation of the adaptive immune system ?

Amador, Maria del Mar, Vandenberghe, Nadia, Berhoune, Nawel, Camdessanché, Jean-Philippe, Gronier, Sophie, Delmont, Emilien, Desnuelle, Claude, Cintas, Pascal, Pittion, Sophie, Louis, Sarah, Demeret,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 696 KB

english, 2016

24

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

Teyssou, Elisa, Chartier, Laura, Amador, Maria-Del-Mar, Lam, Roselina, Lautrette, Géraldine, Nicol, Marie, Machat, Selma, Da Barroca, Sandra, Moigneu, Carine, Mairey, Mathilde, Larmonier, Thierry, Sak

Journal:

Neurobiology of Aging

Year:

2017

File:

PDF, 1.43 MB

2017

25

Homoplasmic deleterious MT-ATP6/8 mutations in adult patients

Rucheton, Benoit, Jardel, Claude, Filaut, Sandrine, Amador, Maria del Mar, Maisonobe, Thierry, Serre, Isabelle, Romero, Norma Beatriz, Leonard-Louis, Sarah, Haraux, Francis, LombÃ¨s, Anne

Journal:

Year:

2020

File:

PDF, 5.15 MB

2020

26

Hypersignaux de la substance blanche et microdélétion 6p25 : à propos d’un cas

Motte, Marine Boudot De La, Amador, Maria Del Mar, Vicart, Savine, Bourgeois, Dominique, Lubetzki, Catherine, Catala, Martin

Journal:

Revue Neurologique

Year:

2016

Language:

french

File:

PDF, 52 KB

french, 2016

27

The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy

Querin, Giorgia, Lenglet, Timothée, Debs, Rabab, Stojkovic, Tanya, Behin, Anthony, Salachas, François, Le Forestier, Nadine, Amador, Maria del Mar, Lacomblez, Lucette, Meininger, Vincent, Bruneteau, G

Journal:

Clinical Neurophysiology

Year:

2018

Language:

english

File:

PDF, 550 KB

english, 2018

28

La sclérose latérale amyotrophique est un syndrome

Salachas, François, Del Mar Amador, Maria

Journal:

Revue Neurologique

Year:

2015

Language:

french

File:

PDF, 259 KB

french, 2015

29

Reversal learning reveals cognitive deficits and altered prediction error encoding in the ventral striatum in Huntington’s disease

Nickchen, Katharina, Boehme, Rebecca, del Mar Amador, Maria, Hälbig, Thomas D., Dehnicke, Katharina, Panneck, Patricia, Behr, Joachim, Prass, Konstantin, Heinz, Andreas, Deserno, Lorenz, Schlagenhauf,

Journal:

Brain Imaging and Behavior

Year:

2016

Language:

english

File:

PDF, 1.84 MB

english, 2016

30

Response to the Letter to the Editor: “Radiotherapy of salivary glands as treatment of sialorrhea in patients with amyotrophic lateral sclerosis requiring non-invasive ventilation: what are we doing?”

Amador, Maria del Mar, Assouline, Avi, Gonzalez-Bermejo, Jésus, Pradat, Pierre-François

Journal:

Journal of Neurology

Year:

2016

Language:

english

File:

PDF, 311 KB

english, 2016

31

La diplopie non paralytique d’origine cérébelleuse

Fenu, Silvia, Psimaras, Dimitri, Ewenczyk, Claire, Amador, Maria Del Mar, Durr, Alexandra, Gaymard, Bertrand

Journal:

Revue Neurologique

Year:

2017

Language:

french

File:

PDF, 65 KB

french, 2017

32

Congenital transmission of Chagas disease in a non-endemic area, is an early diagnosis possible?

Francisco-González, Laura, Rubio-San-Simón, Alba, González-Tomé, María Isabel, Manzanares, Ángela, Epalza, Cristina, Santos, María del Mar, Gastañaga, Teresa, Merino, Paloma, Ramos-Amador, José Tomás,

Journal:

Year:

2019

Language:

english

File:

PDF, 395 KB

english, 2019

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