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Skocz do pozycji: 1 1.

Title :

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Authors :

Barp, AndreaAff1, Aff6
Laforet, Pascal
Bello, Luca
Tasca, Giorgio
Vissing, John
Monforte, Mauro
Ricci, Enzo
Choumert, Ariane
Stojkovic, Tanya
Malfatti, Edoardo
Pegoraro, Elena
Semplicini, Claudio
Stramare, Roberto
Scheidegger, Olivier
Haberlova, Jana
Straub, Volker
Marini-Bettolo, Chiara
Løkken, Nicoline
Diaz-Manera, Jordi
Urtizberea, Jon A.
Mercuri, Eugenio
Kynčl, Martin
Walter, Maggie C.
Carlier, Robert Y.

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Source :

Journal of Neurology. 267(1):45-56

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Skocz do pozycji: 2 2.

Title :

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Authors :

Krahn, MartinAff1, Aff2
Biancalana, Valérie
Cerino, MathieuAff1, Aff2
Perrin, AurélienAff4, Aff5
Michel-Calemard, Laurence
Nectoux, Juliette
Leturcq, France
Bouchet-Séraphin, Céline
Acquaviva-Bourdain, Cécile
Campana-Salort, EmmanuelleAff1, Aff10
Molon, Annamaria
Urtizberea, Jon Andoni
Audic, FrédériqueAff1, Aff10
Chabrol, Brigitte
Pouget, JeanAff1, Aff10
Froissart, Roseline
Melki, Judith
Rendu, JohnAff13, Aff14, Aff15
Petit, François
Métay, Corinne
Seta, Nathalie
Sternberg, Damien
Fauré, JulienAff13, Aff14, Aff15
Cossée, MireilleAff4, Aff5

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European Journal of Human Genetics. 27(3):349-352

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Skocz do pozycji: 3 3.

Title :

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

Authors :

Gutiérrez Gutiérrez, Gerardo

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Alternate Title :

Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert (Spanish; Castilian)

Source :

In Medicina Clínica (English Edition) 19 July 2019 153(2):82-82

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Skocz do pozycji: 4 4.

Title :

Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert

Authors :

Gutiérrez Gutiérrez, Gerardo

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Alternate Title :

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease (English)

Source :

In Medicina Clinica 19 July 2019 153(2):82-82

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Skocz do pozycji: 5 5.

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Skocz do pozycji: 6 6.

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Skocz do pozycji: 7 7.

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Skocz do pozycji: 8 8.

Title :

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

Authors :

Susman, Rachel D.

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Source :

In Neuromuscular Disorders 2010 20(4):229-237

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Skocz do pozycji: 9 9.

Title :

Problèmes posés en réanimation pédiatrique par les enfants myopathes

Authors :

URTIZBEREA, Jon Andoni

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Subject Terms :

Homme
Human
Hombre
Dystrophie musculaire
Muscular dystrophy
Distrofia muscular
Enfant
Child
Niño
Handicap moteur
Motor handicap
Deficiencia motora
Handicap
Desventaja
Myopathie
Myopathy
Miopatía
Réanimation
Resuscitation
Reanimación
Système nerveux pathologie
Nervous system diseases
Sistema nervioso patología
DEFICIENCE MOTRICE
PERSONNE HANDICAPEE
Sciences biologiques et medicales
Biological and medical sciences
Sciences biologiques fondamentales et appliquees. Psychologie
Fundamental and applied biological sciences. Psychology
Psychologie. Psychophysiologie
Psychology. Psychophysiology
Psychologie et médecine
Psychology and medicine
Psychologie. Psychanalyse. Psychiatrie
Psychology. Psychoanalysis. Psychiatry
Hygiene and public health, epidemiology, occupational medicine
Hygiène et santé publique, épidémiologie, médecine du travail
General medicine general surgery
Médecine et chirurgie générales
Applied physiology, ergonomics sports medicine
Physiologie appliquée, ergonomie, sport
Psychology, psychopathology, psychiatry
Psychologie, psychopathologie, psychiatrie

Alternate Title :

Problems of pediatric resuscitation for muscolar-dystrophy children

Source :

Réadaptation (Paris). (393):7-9

Original Material :

CTNERHI

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http://pascal-francis.inist.fr/vibad/index.php?action=search&terms=6479576

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Skocz do pozycji: 10 10.

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Skocz do pozycji: 11 11.

Title :

Variabilité phénotypique de la myotonie canal sodium au sein d’une famille à travers 4 générations

Authors :

Maguenouche, Schahrazed Linda

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Source :

In Journees de Neurologie de langue francaise 2018, Revue Neurologique April 2018 174 Supplement 1:S39-S39

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Skocz do pozycji: 12 12.

Title :

Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22

Authors :

Fischer, J.
Urtizberea, Jon Andoni
Pavek, Sylvana
Vandiedonck, Claire
Bruls, Thomas
Saker, Safa
Alkatip, Yhia
Prud’homme, Jean-François
Weissenbach, Jean

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Human Genetics. July 1998 103(1):60-64

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Skocz do pozycji: 13 13.

Title :

Refined mapping of the HMSNR critical gene region—construction of a high-density integrated genetic and physical map

Authors :

Hantke, Janina

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Source :

In Neuromuscular Disorders 2003 13(9):729-736

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Skocz do pozycji: 14 14.

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Skocz do pozycji: 15 15.

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Skocz do pozycji: 16 16.

Title :

Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries

Authors :

Chandler, David

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Source :

In Neuromuscular Disorders 2000 10(8):584-591

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Skocz do pozycji: 17 17.

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Skocz do pozycji: 18 18.

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Skocz do pozycji: 19 19.

Title :

Analyse évolutive d’une cohorte de patients atteints de myopathie héréditaire à inclusions : de l’approche « gène par gène » à l’approche « exome »

Authors :

Cerino, Mathieu

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Source :

In Journees de Neurologie de langue francaise 2015, Revue Neurologique April 2015 171 Supplement 1:A150-A151

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Skocz do pozycji: 20 20.

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