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1.
Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study.
BMC Neurol;
23(1): 88, 2023 Feb 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-36855136
2.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med;
23(10): 1873-1881, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34113002
3.
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder.
Neuropediatrics;
52(2): 126-132, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33231275
4.
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Hum Mutat;
38(11): 1477-1484, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28726266
5.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Brain;
138(Pt 12): 3503-19, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26510951
6.
Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy Registry.
J Clin Med;
13(10)2024 May 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-38792340
7.
Reduced c-Fos expression in medullary catecholaminergic neurons in rats 20 h after exposure to chronic intermittent hypoxia.
Am J Physiol Regul Integr Comp Physiol;
304(7): R514-22, 2013 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23364524
8.
Mental health challenges and digital platform opportunities in patients and families affected by pediatric neuromuscular diseases - experiences from Switzerland.
Digit Health;
9: 20552076231213700, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38025108
9.
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Pediatr Neurol;
141: 79-86, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36791574
10.
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland.
Neuromuscul Disord;
32(5): 399-409, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35337708
11.
Upper airway dysfunction of Tau-P301L mice correlates with tauopathy in midbrain and ponto-medullary brainstem nuclei.
J Neurosci;
30(5): 1810-21, 2010 Feb 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-20130190
12.
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
Hum Mutat;
32(6): E2211-25, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21618344
13.
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
Am J Med Genet A;
155A(8): 2003-7, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21739600
14.
REM sleep-like episodes of motoneuronal depression and respiratory rate increase are triggered by pontine carbachol microinjections in in situ perfused rat brainstem preparation.
Exp Physiol;
96(5): 548-55, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21335420
15.
Genetic neuropathies presenting with CIDP-like features in childhood.
Neuromuscul Disord;
31(2): 113-122, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33386210
16.
Etiology of Carpal Tunnel Syndrome in a Large Cohort of Children.
Children (Basel);
8(8)2021 Jul 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-34438514
17.
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines.
Children (Basel);
8(8)2021 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34438578
18.
CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension.
Neurology;
94(22): e2290-e2301, 2020 06 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32424051
19.
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.
Neurol Genet;
6(1): e393, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-32042921
20.
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
Neuromuscul Disord;
18(2): 159-66, 2008 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-18077166