Results 181 to 190 of about 41,376 (286)

Foies et voies biliaires 5 / Charcot, Jean Martin

open access: yes
Manuscrit, (Fonds Charcot : Manuscrits des leçons de J.M.Charcot.
Charcot, Jean Martin
core  

Low prevalence of previous lower limb revascularisation in patients with diabetes and acute Charcot foot: results from a case-control study.

open access: yes, 2015
<p><strong>Aim:</strong> Charcot foot is a rare but devastating complication of diabetes, leading to uncontrolled inflammation and high risk of osteolysis in its acute phase.
K. Deschamps   +6 more
core  

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

open access: yesClinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Charcot-Marie-tooth disease : muscle morphological and neurophysiological aspects

open access: yes, 1999
Charcot-Marie-Tooth disease (CMT) is a common inherited disorder of the peripheral nervous system characterised by distal weakness and muscular atrophy, sensory disturbance of the distal limbs, diminished or absent deep tendon reflexes and often pes ...
UllaBritt Ericson-Gripenstedt (19525912)
core  

Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 9, Page 1316-1324, September 2026.
This original article is commented on by Domínguez‐Carral and Ortigoza‐Escobar on pages 1182–1183 of this issue. Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry.
Larissa R. Heideman   +9 more
wiley   +1 more source

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