about
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis.1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyThe Clinical Outcome Study for dysferlinopathy: An international multicenter study.Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.Rules of tissue packing involving different cell types: human muscle organizationReport by the Spanish Foundation for the Brain on the social impact of amyotrophic lateral sclerosis and other neuromuscular disorders.TK2 mutation presenting as indolent myopathy.Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.A new phenotype of dysferlinopathy with congenital onset.Acute paraparesis following intravenous steroid therapy in a case of dural spinal arteriovenous fistula.Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study.Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.Branching enzyme deficiency: expanding the clinical spectrum.Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trialsDysferlin expression in monocytes: A source of mRNA for mutation analysisCore-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMDPrednisone can worsen ataxic neuropathy with anti-disialosyl IgM antibodiesSymptomatic dysferlin gene mutation carriers: Characterization of two casesX-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterizationMuscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-upA Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine[Spinal cord lymphoma][Isolated paralysis of the hypoglossal nerve due to metastasis at the base of the cranium]Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body diseaseA novel MYH7 founder mutation causing Laing distal myopathy in Southern SpainPOGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
P50
Q29347528-C35B9817-CEA1-4839-87B0-4DF4B457C8FBQ34628600-1FF103D7-4E81-4ACB-9436-590466A19DA5Q36298643-163214EE-3009-4681-A2FF-BE3F4B3F1D28Q36380483-3B79A970-4960-4099-8519-9A5EE0C7618AQ37197499-71DAE059-13C3-4790-8349-BF800064EEE7Q37490172-EA5EF3F9-04AF-4AEC-8970-DA5C0FF8A497Q37679842-ED6D3751-5029-44C2-B9D8-60A3FDD8586FQ41090854-996AC3B7-260A-498B-B023-A84E6561767FQ41137661-E204D2B0-E5CA-4EED-9371-2B865CD76787Q41529889-7E9B8D8F-0C38-4428-BE65-E42C800EC7AAQ43007239-37C443A0-D78F-4B10-B35A-0CEBFFBEB436Q46197310-91CFD426-8F23-401B-8B8D-D6BEE4C7D7EFQ46402389-1CEF884B-0133-4449-A981-DC3972EEC30AQ46887163-F55F0AF7-B2B1-446C-A9D0-3BC09B6D628FQ47649427-7DC6C042-1949-4850-8A58-B97B00DA5D0FQ47730700-4BBAB416-7009-48C2-A14C-7AC9FCC18E24Q48148090-C7DFC104-6DF9-4E7C-8DC2-2062C49D99BDQ48864024-EC3BB47C-BA57-44D9-AC99-77069D192B29Q54483657-F9E0A8E3-F965-4B22-9C33-7E45D59C4850Q54549396-533D0548-0DAD-4695-A5FA-36C5E65AFB66Q56969254-59E6AC68-9562-4FEE-BBC0-A2A8521496CDQ58380569-EA87505A-CCEF-4E36-9488-859B2CE6CA47Q58744537-57867920-19DB-4B8C-A3F0-FC0CDF0AE0B7Q59876066-020C23C0-1EBC-4EEA-8554-C7EA7E23A98EQ59876072-ECE34806-C02B-4A9A-9D0F-730CCE907CA0Q59876082-FC591000-76E9-49C5-87A8-4C931AD975A5Q62672001-BBEF8703-C6C8-490F-9D6B-C29DABEC4B23Q62672007-2F1B1471-3204-4CBD-AEAA-8BA788C484C4Q73298884-CB39262D-912A-41CF-862C-3F17A7A54C26Q73577225-9129CD3D-3C09-4C83-B592-6E4E6F41DEC9Q86697587-A6B068C8-5AA8-49FD-80AC-EF9660505840Q91238019-1BC921B2-2CB3-4B85-A28B-C206C9C4AB9DQ92385755-0EF094E0-49D9-4CF3-9EB1-AE59DED276BF
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
C Paradas
@ast
C Paradas
@en
C Paradas
@es
C Paradas
@nl
type
label
C Paradas
@ast
C Paradas
@en
C Paradas
@es
C Paradas
@nl
prefLabel
C Paradas
@ast
C Paradas
@en
C Paradas
@es
C Paradas
@nl
P106
P31
P496
0000-0002-6917-2236